Variant report

Variant	nsv970094
Chromosome Location	chr6:27782238-27786201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:456)
CpG islands
(count:672)
Chromatin interactive
region (count:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:27782504-27782940	HepG2	liver:	n/a	n/a
2	ATF2	chr6:27783205-27783916	GM12878	blood:	n/a	n/a
3	ATF2	chr6:27782380-27782993	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr6:27782396-27783108	GM12878	blood:	n/a	n/a
5	ATF2	chr6:27780520-27782252	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr6:27782372-27783977	GM12878	blood:	n/a	n/a
7	ATF2	chr6:27783557-27783920	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr6:27781629-27782265	GM12878	blood:	n/a	n/a
9	ATF2	chr6:27782385-27783556	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr6:27783536-27783865	GM12878	blood:	n/a	n/a
11	BATF	chr6:27782766-27783232	GM12878	blood:	n/a	n/a
12	BATF	chr6:27782021-27782683	GM12878	blood:	n/a	n/a
13	BATF	chr6:27783664-27783852	GM12878	blood:	n/a	n/a
14	BCL11A	chr6:27783490-27783865	GM12878	blood:	n/a	n/a
15	BCL11A	chr6:27782062-27782666	GM12878	blood:	n/a	n/a
16	BCL11A	chr6:27782252-27782548	GM12878	blood:	n/a	n/a
17	BCL11A	chr6:27782768-27783156	GM12878	blood:	n/a	n/a
18	BCL3	chr6:27783445-27783853	GM12878	blood:	n/a	n/a
19	BCLAF1	chr6:27782372-27783864	GM12878	blood:	n/a	n/a
20	BCLAF1	chr6:27782402-27783860	GM12878	blood:	n/a	n/a
21	BCLAF1	chr6:27781518-27782240	GM12878	blood:	n/a	n/a
22	BCLAF1	chr6:27781254-27782273	GM12878	blood:	n/a	n/a
23	BHLHE40	chr6:27783667-27784196	GM12878	blood:	n/a	n/a
24	BRCA1	chr6:27782503-27782887	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr6:27782431-27783364	HCT-116	colon:	n/a	n/a
26	CBX3	chr6:27781645-27782695	K562	blood:	n/a	n/a
27	CBX3	chr6:27782723-27783167	K562	blood:	n/a	n/a
28	CBX3	chr6:27782130-27782611	K562	blood:	n/a	n/a
29	CEBPB	chr6:27784915-27784929	K562	blood:	n/a	n/a
30	CEBPB	chr6:27782177-27782753	K562	blood:	n/a	chr6:27782617-27782625 chr6:27782680-27782691
31	CEBPB	chr6:27782497-27783012	Hela-S3	cervix:	n/a	chr6:27782617-27782625 chr6:27782751-27782764 chr6:27782680-27782691
32	CEBPB	chr6:27781554-27783653	GM12878	blood:	n/a	chr6:27782617-27782625 chr6:27782751-27782764 chr6:27782680-27782691
33	CEBPB	chr6:27782378-27782601	GM12878	blood:	n/a	n/a
34	CEBPD	chr6:27782749-27783320	HepG2	liver:	n/a	n/a
35	CEBPD	chr6:27782124-27782582	K562	blood:	n/a	n/a
36	CHD1	chr6:27781380-27782519	GM12878	blood:	n/a	n/a
37	CHD1	chr6:27774579-27782547	H1-hESC	embryonic stem cell:	n/a	chr6:27775204-27775214 chr6:27778702-27778712
38	CHD1	chr6:27782733-27784355	GM12878	blood:	n/a	n/a
39	CHD1	chr6:27783339-27783364	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr6:27782386-27783007	GM12878	blood:	n/a	n/a
41	CHD2	chr6:27782393-27783192	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr6:27781713-27782998	Hela-S3	cervix:	n/a	n/a
43	CREB1	chr6:27781479-27782253	HepG2	liver:	n/a	n/a
44	CREB1	chr6:27782443-27783906	GM12878	blood:	n/a	chr6:27782698-27782711
45	CREB1	chr6:27782448-27783339	HepG2	liver:	n/a	chr6:27782698-27782711
46	CREB1	chr6:27782433-27783064	H1-hESC	embryonic stem cell:	n/a	chr6:27782698-27782711
47	CREB1	chr6:27782443-27783282	HepG2	liver:	n/a	chr6:27782698-27782711
48	CREB1	chr6:27782468-27783540	GM12878	blood:	n/a	chr6:27782698-27782711
49	CREB1	chr6:27781417-27782244	GM12878	blood:	n/a	n/a
50	CREB1	chr6:27782489-27782974	H1-hESC	embryonic stem cell:	n/a	chr6:27782698-27782711

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27782628-27782678	AG04450	lung:	fetal
2	chr6:27782628-27782678	AG04450	lung:	fetal
3	chr6:27782909-27782959	CMK	blood:	n/a
4	chr6:27783331-27783381	AG09309	skin:	n/a
5	chr6:27784947-27784997	NB4	blood:	n/a
6	chr6:27782658-27782708	GM19239	blood:	n/a
7	chr6:27782484-27782534	SAEC	small airway:	n/a
8	chr6:27782617-27782667	Caco-2	colon:	n/a
9	chr6:27783331-27783381	MCF10A-Er-Src	breast:	n/a
10	chr6:27783059-27783109	ECC-1	luminal epithelium:	n/a
11	chr6:27783054-27783104	Caco-2	colon:	n/a
12	chr6:27782541-27782591	HEK293	kidney:	embryo
13	chr6:27782541-27782591	AoSMC	blood vessel:	n/a
14	chr6:27782541-27782591	Caco-2	colon:	n/a
15	chr6:27782909-27782959	AoSMC	blood vessel:	n/a
16	chr6:27783054-27783104	NHBE	bronchial:	n/a
17	chr6:27782541-27782591	LNCaP	prostate:	n/a
18	chr6:27782541-27782591	NT2-D1	testis:	n/a
19	chr6:27782909-27782959	BE2_C	brain:	n/a
20	chr6:27783331-27783381	BJ	skin:	n/a
21	chr6:27783331-27783381	HCM	heart:	n/a
22	chr6:27782658-27782708	Caco-2	colon:	n/a
23	chr6:27782617-27782667	SK-N-SH	brain:	n/a
24	chr6:27782658-27782708	U87	brain:	n/a
25	chr6:27783054-27783104	NHDF-neo	bronchial:	n/a
26	chr6:27782909-27782959	HCPEpiC	choroid plexus:	n/a
27	chr6:27782658-27782708	NHBE	bronchial:	n/a
28	chr6:27782541-27782591	U87	brain:	n/a
29	chr6:27784947-27784997	HIPEpiC	eye:	n/a
30	chr6:27782658-27782708	HNPCEpiC	eye:	n/a
31	chr6:27782484-27782534	SK-N-SH_RA	brain:	n/a
32	chr6:27783059-27783109	SK-N-SH	brain:	n/a
33	chr6:27782658-27782708	SAEC	small airway:	n/a
34	chr6:27782658-27782708	HCF	heart:	n/a
35	chr6:27783226-27783276	MCF10A-Er-Src	breast:	n/a
36	chr6:27784947-27784997	NHBE	bronchial:	n/a
37	chr6:27782628-27782678	NT2-D1	testis:	n/a
38	chr6:27782484-27782534	MCF-7	breast:	n/a
39	chr6:27782617-27782667	MCF10A-Er-Src	breast:	n/a
40	chr6:27782541-27782591	MCF10A-Er-Src	breast:	n/a
41	chr6:27782617-27782667	PrEC	prostate:	n/a
42	chr6:27782541-27782591	HEEpiC	esophagus:	n/a
43	chr6:27782628-27782678	GM12891	blood:	n/a
44	chr6:27783331-27783381	SK-N-SH_RA	brain:	n/a
45	chr6:27782617-27782667	ProgFib	skin:	n/a
46	chr6:27782658-27782708	IMR90	lung:	fetal
47	chr6:27784947-27784997	HRE	kidney:	n/a
48	chr6:27783059-27783109	SK-N-SH_RA	brain:	n/a
49	chr6:27783331-27783381	NB4	blood:	n/a
50	chr6:27782658-27782708	HepG2	liver:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27782776..27783687-chr6:27798847..27799701,2	NB4	blood:
2	chr6:27121049..27122918-chr6:27780624..27782591,2	K562	blood:
3	chr10:35625339..35626160-chr6:27781449..27782425,2	HCT-116	colon:
4	chr6:26122193..26124669-chr6:27781205..27782892,3	MCF-7	breast:
5	chr6:27100484..27102319-chr6:27785296..27787491,2	MCF-7	breast:
6	chr6:27104887..27109324-chr6:27780147..27783327,4	MCF-7	breast:
7	chr6:27105231..27107098-chr6:27782990..27785264,2	K562	blood:
8	chr6:26155301..26160613-chr6:27781458..27785146,6	MCF-7	breast:
9	chr6:27113400..27116564-chr6:27784451..27787586,4	K562	blood:
10	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
11	chr15:72522738..72523426-chr6:27781752..27782254,2	Hela-S3	cervix:
12	chr6:26216490..26219190-chr6:27783241..27786059,2	MCF-7	breast:
13	chr6:26043139..26044932-chr6:27781664..27783621,2	MCF-7	breast:
14	chr2:183902933..183903582-chr6:27782215..27782898,2	Hela-S3	cervix:
15	chr17:39845026..39845560-chr6:27781945..27782733,2	Hela-S3	cervix:
16	chr14:50360748..50362571-chr6:27780404..27782536,2	MCF-7	breast:
17	chr20:45986636..45989209-chr6:27782881..27785567,2	MCF-7	breast:
18	chr6:27100056..27102330-chr6:27786147..27789279,4	K562	blood:
19	chr19:46087794..46088378-chr6:27782398..27783153,2	Hela-S3	cervix:
20	chr6:27782015..27782992-chr8:95731280..95732018,2	NB4	blood:
21	chr6:27114761..27115391-chr6:27781503..27782495,2	MCF-7	breast:
22	chr1:185285853..185286793-chr6:27782269..27782920,2	Hela-S3	cervix:
23	chr6:27113704..27115641-chr6:27781150..27784385,3	MCF-7	breast:
24	chr6:26212750..26214290-chr6:27785099..27787615,2	K562	blood:
25	chr6:27111360..27127716-chr6:27768319..27787545,69	MCF-7	breast:
26	chr6:26020260..26024010-chr6:27780504..27784636,5	MCF-7	breast:
27	chr5:65439509..65441854-chr6:27782836..27785587,2	MCF-7	breast:
28	chr6:27781952..27782555-chr6:27805029..27805895,2	Hela-S3	cervix:
29	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
30	chr6:27154833..27157823-chr6:27782934..27785900,2	K562	blood:
31	chr6:26233018..26235518-chr6:27781228..27784528,3	MCF-7	breast:
32	chr6:26270120..26272852-chr6:27781048..27782550,2	MCF-7	breast:
33	chr6:27784797..27786716-chr6:28340044..28342685,2	MCF-7	breast:
34	chr22:39639283..39641253-chr6:27780476..27782523,2	MCF-7	breast:
35	chr6:26122455..26127911-chr6:27777953..27784057,9	MCF-7	breast:
36	chr6:27094403..27106138-chr6:27772392..27783072,46	MCF-7	breast:
37	chr14:64969586..64971373-chr6:27781788..27783642,2	MCF-7	breast:
38	chr6:26199305..26201946-chr6:27784763..27787523,2	MCF-7	breast:
39	chr6:27100218..27102332-chr6:27784679..27786641,2	MCF-7	breast:
40	chr6:26215420..26218815-chr6:27778137..27782519,4	MCF-7	breast:
41	chr6:26182173..26185335-chr6:27780962..27783737,3	MCF-7	breast:
42	chr6:26198554..26201743-chr6:27781165..27784293,4	MCF-7	breast:
43	chr6:27780572..27782800-chr6:28000600..28002491,2	K562	blood:
44	chr6:27735339..27736956-chr6:27780482..27782528,2	MCF-7	breast:
45	chr19:4910164..4910980-chr6:27782001..27782558,2	Hela-S3	cervix:
46	chr6:27780093..27783062-chr6:28322537..28324933,2	K562	blood:
47	chr6:27100161..27102247-chr6:27781053..27784459,3	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H2BM	TF binding region
HIST1H2AJ	TF binding region
HIST1H2BM	CpG island
HIST1H2AJ	CpG island
ENSG00000256018	chromatin interactions
ENSG00000197914	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000100311	chromatin interactions
ENSG00000197697	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000218690	chromatin interactions
ENSG00000234816	chromatin interactions
ENSG00000034063	chromatin interactions
ENSG00000217315	chromatin interactions
ENSG00000156162	chromatin interactions
ENSG00000198366	chromatin interactions
ENSG00000196226	chromatin interactions
ENSG00000218281	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000197846	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000198339	chromatin interactions
ENSG00000153914	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000061676	chromatin interactions
ENSG00000116679	chromatin interactions
ENSG00000124575	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000126804	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000196176	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000235109	chromatin interactions
ENSG00000108100	chromatin interactions
ENSG00000253744	chromatin interactions
ENSG00000089775	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000125741	chromatin interactions

Extended variants
information (count: 206 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552453097	chr6:27782252-27782253	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
2	rs372650213	chr6:27782276-27782277	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
3	rs377069608	chr6:27782279-27782280	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
4	rs200393289	chr6:27782315-27782316	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
5	rs45558641	chr6:27782316-27782317	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
6	rs201406770	chr6:27782336-27782337	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
7	rs200522974	chr6:27782376-27782377	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
8	rs150955249	chr6:27782405-27782406	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
9	rs199735306	chr6:27782408-27782409	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
10	rs553061767	chr6:27782426-27782427	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
11	rs573056214	chr6:27782447-27782448	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
12	rs201651725	chr6:27782453-27782454	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
13	rs371200676	chr6:27782462-27782463	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
14	rs558817017	chr6:27782468-27782469	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
15	rs146113936	chr6:27782469-27782470	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
16	rs140756114	chr6:27782480-27782481	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
17	rs193017218	chr6:27782486-27782487	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
18	rs374667336	chr6:27782488-27782489	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
19	rs377642129	chr6:27782493-27782494	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
20	rs144679495	chr6:27782495-27782496	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
21	rs146657069	chr6:27782504-27782505	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
22	rs370999596	chr6:27782511-27782512	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
23	rs140252619	chr6:27782516-27782517	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
24	rs41269269	chr6:27782519-27782520	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
25	rs138112845	chr6:27782520-27782521	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
26	rs374549068	chr6:27782526-27782527	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
27	rs59532390	chr6:27782527-27782528	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs401763	chr6:27782528-27782529	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs562785339	chr6:27782531-27782532	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
30	rs567620692	chr6:27782533-27782534	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
31	rs390764	chr6:27782535-27782536	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs548481166	chr6:27782536-27782537	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
33	rs401754	chr6:27782538-27782539	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs372022693	chr6:27782542-27782543	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
35	rs202191855	chr6:27782543-27782544	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
36	rs568705967	chr6:27782544-27782545	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
37	rs530041027	chr6:27782552-27782553	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
38	rs41269271	chr6:27782559-27782560	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	30 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs201229256	chr6:27782563-27782564	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
40	rs140086654	chr6:27782564-27782565	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
41	rs622855	chr6:27782565-27782566	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
42	rs538834338	chr6:27782566-27782567	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
43	rs622858	chr6:27782567-27782568	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
44	rs575359518	chr6:27782578-27782579	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
45	rs558911204	chr6:27782579-27782580	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
46	rs569453338	chr6:27782625-27782626	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
47	rs373802683	chr6:27782661-27782662	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
48	rs183046853	chr6:27782703-27782704	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
49	rs572855770	chr6:27782722-27782723	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
50	rs540395656	chr6:27782730-27782731	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD

Chromatin state (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27774400-27784000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:27778200-27782400	Weak transcription	Spleen	Spleen
3	chr6:27778400-27782400	Weak transcription	Lung	lung
4	chr6:27778400-27782400	Weak transcription	Pancreas	Pancrea
5	chr6:27778600-27782600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:27779000-27782400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:27779400-27782400	Weak transcription	Stomach Mucosa	stomach
8	chr6:27779600-27782600	Weak transcription	Fetal Heart	heart
9	chr6:27780200-27784000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr6:27780400-27783800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:27780800-27782800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:27780800-27784200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:27781000-27782400	Weak transcription	Right Atrium	heart
14	chr6:27781000-27783000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:27781000-27783400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr6:27781000-27784400	Active TSS	Brain Germinal Matrix	brain
17	chr6:27781200-27783600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr6:27781200-27783600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:27781200-27784000	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr6:27781200-27784400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr6:27781200-27784400	Active TSS	A549	lung
22	chr6:27781400-27782800	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr6:27781600-27782800	Active TSS	Fetal Muscle Trunk	muscle
24	chr6:27781600-27783000	Active TSS	Fetal Muscle Leg	muscle
25	chr6:27781600-27783200	Active TSS	Fetal Stomach	stomach
26	chr6:27781600-27783200	Active TSS	NH-A	brain
27	chr6:27781600-27783600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:27781600-27783600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:27781600-27783600	Active TSS	Fetal Brain Female	brain
30	chr6:27781600-27783800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:27781600-27784000	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr6:27781600-27784000	Active TSS	Thymus	Thymus
33	chr6:27781800-27782400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr6:27781800-27782400	Enhancers	Liver	Liver
35	chr6:27781800-27782600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:27781800-27782600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:27781800-27782800	Active TSS	Muscle Satellite Cultured Cells	--
38	chr6:27781800-27782800	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr6:27781800-27782800	Active TSS	Rectal Smooth Muscle	rectum
40	chr6:27781800-27783000	Active TSS	Hela-S3	cervix
41	chr6:27781800-27783200	Active TSS	Fetal Kidney	kidney
42	chr6:27781800-27783200	Active TSS	HepG2	liver
43	chr6:27781800-27783400	Active TSS	HSMM	muscle
44	chr6:27781800-27783600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:27781800-27784000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:27781800-27784000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:27782000-27782400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr6:27782000-27782400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
49	chr6:27782000-27782400	Active TSS	Colon Smooth Muscle	Colon
50	chr6:27782000-27782600	Active TSS	Stomach Smooth Muscle	stomach

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