Variant report

Variant	nsv883508
Chromosome Location	chr6:27434220-27455625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1413)
CpG islands
(count:1345)
Chromatin interactive
region (count:60)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1413 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:27446399-27446785	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:27440512-27441167	K562	blood:	n/a	n/a
3	ARID3A	chr6:27440297-27441218	HepG2	liver:	n/a	n/a
4	ATF1	chr6:27438864-27439335	K562	blood:	n/a	n/a
5	ATF1	chr6:27447153-27447629	K562	blood:	n/a	n/a
6	ATF1	chr6:27439967-27441243	K562	blood:	n/a	chr6:27440705-27440719
7	ATF2	chr6:27446415-27446921	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr6:27446195-27447735	GM12878	blood:	n/a	n/a
9	ATF2	chr6:27440072-27441151	H1-hESC	embryonic stem cell:	n/a	chr6:27440705-27440719 chr6:27440707-27440718
10	ATF2	chr6:27447137-27447677	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr6:27439917-27441234	GM12878	blood:	n/a	chr6:27440705-27440719 chr6:27440707-27440718
12	ATF2	chr6:27439875-27441277	GM12878	blood:	n/a	chr6:27440705-27440719 chr6:27440707-27440718
13	ATF2	chr6:27446333-27447700	GM12878	blood:	n/a	n/a
14	ATF2	chr6:27440129-27441228	H1-hESC	embryonic stem cell:	n/a	chr6:27440705-27440719 chr6:27440707-27440718
15	ATF2	chr6:27447160-27447702	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr6:27446315-27447827	HCT-116	colon:	n/a	n/a
17	ATF3	chr6:27446230-27447782	K562	blood:	n/a	n/a
18	ATF3	chr6:27439992-27441234	K562	blood:	n/a	chr6:27440707-27440718 chr6:27440226-27440239 chr6:27440706-27440719 chr6:27440226-27440237 chr6:27440466-27440480 chr6:27440707-27440720 chr6:27440709-27440717 chr6:27440706-27440717 chr6:27440708-27440716 chr6:27440705-27440716 chr6:27440709-27440716 chr6:27440707-27440718 chr6:27440706-27440719 chr6:27440705-27440720
19	ATF3	chr6:27446169-27447922	A549	lung:	n/a	n/a
20	ATF3	chr6:27446325-27447010	HCT-116	colon:	n/a	n/a
21	ATF3	chr6:27446158-27447809	A549	lung:	n/a	n/a
22	ATF3	chr6:27440647-27441110	K562	blood:	n/a	chr6:27440707-27440718 chr6:27440706-27440719 chr6:27440707-27440720 chr6:27440709-27440717 chr6:27440706-27440717 chr6:27440708-27440716 chr6:27440705-27440716 chr6:27440709-27440716 chr6:27440707-27440718 chr6:27440706-27440719 chr6:27440705-27440720
23	BACH1	chr6:27447159-27447637	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr6:27440327-27440533	K562	blood:	n/a	n/a
25	BACH1	chr6:27436175-27436396	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr6:27436103-27436612	K562	blood:	n/a	n/a
27	BATF	chr6:27446411-27446919	GM12878	blood:	n/a	n/a
28	BATF	chr6:27446434-27446785	GM12878	blood:	n/a	n/a
29	BCL11A	chr6:27446479-27446862	GM12878	blood:	n/a	n/a
30	BCL3	chr6:27446319-27446877	A549	lung:	n/a	n/a
31	BCLAF1	chr6:27446200-27447713	GM12878	blood:	n/a	chr6:27446303-27446312 chr6:27447553-27447562
32	BCLAF1	chr6:27440005-27441282	K562	blood:	n/a	chr6:27440901-27440910
33	BCLAF1	chr6:27440566-27441258	K562	blood:	n/a	chr6:27440901-27440910
34	BCLAF1	chr6:27446293-27447749	GM12878	blood:	n/a	chr6:27446303-27446312 chr6:27447553-27447562
35	BCLAF1	chr6:27440007-27441240	GM12878	blood:	n/a	chr6:27440901-27440910
36	BCLAF1	chr6:27440050-27441332	GM12878	blood:	n/a	chr6:27440901-27440910
37	BDP1	chr6:27446300-27446891	Hela-S3	cervix:	n/a	n/a
38	BDP1	chr6:27446309-27446761	K562	blood:	n/a	n/a
39	BDP1	chr6:27447180-27447637	Hela-S3	cervix:	n/a	n/a
40	BDP1	chr6:27447096-27447623	K562	blood:	n/a	n/a
41	BHLHE40	chr6:27439964-27441178	K562	blood:	n/a	n/a
42	BHLHE40	chr6:27446325-27447737	K562	blood:	n/a	n/a
43	BHLHE40	chr6:27440118-27441226	GM12878	blood:	n/a	n/a
44	BHLHE40	chr6:27446521-27447906	GM12878	blood:	n/a	n/a
45	BHLHE40	chr6:27440210-27441183	HepG2	liver:	n/a	n/a
46	BHLHE40	chr6:27439651-27439754	K562	blood:	n/a	n/a
47	BRCA1	chr6:27440010-27441160	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr6:27440555-27441161	HepG2	liver:	n/a	n/a
49	BRCA1	chr6:27440541-27441062	GM12878	blood:	n/a	n/a
50	BRCA1	chr6:27440523-27440884	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1345 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27447153-27447203	ProgFib	skin:	n/a
2	chr6:27442106-27442156	HCT-116	colon:	n/a
3	chr6:27441972-27442022	GM12891	blood:	n/a
4	chr6:27447153-27447203	ProgFib	skin:	n/a
5	chr6:27442106-27442156	HCT-116	colon:	n/a
6	chr6:27441972-27442022	GM12891	blood:	n/a
7	chr6:27447446-27447496	HCF	heart:	n/a
8	chr6:27447153-27447203	AG04449	skin:	fetal
9	chr6:27447371-27447421	HL-60	blood:	n/a
10	chr6:27440625-27440675	GM12892	blood:	n/a
11	chr6:27440966-27441016	HRCEpiC	kidney:	n/a
12	chr6:27441300-27441350	GM06990	blood:	n/a
13	chr6:27441298-27441348	BJ	skin:	n/a
14	chr6:27447153-27447203	AG04450	lung:	fetal
15	chr6:27446665-27446715	Jurkat	blood:	n/a
16	chr6:27440482-27440532	HPAEpiC	pulmonary alveolar:	n/a
17	chr6:27447153-27447203	T-47D	breast:	n/a
18	chr6:27447446-27447496	SK-N-SH	brain:	n/a
19	chr6:27440806-27440856	AG04450	lung:	fetal
20	chr6:27447371-27447421	Jurkat	blood:	n/a
21	chr6:27440984-27441034	HRCEpiC	kidney:	n/a
22	chr6:27440806-27440856	HEEpiC	esophagus:	n/a
23	chr6:27441972-27442022	Jurkat	blood:	n/a
24	chr6:27441036-27441086	NHBE	bronchial:	n/a
25	chr6:27440625-27440675	HUVEC	blood vessel:	n/a
26	chr6:27441972-27442022	HCPEpiC	choroid plexus:	n/a
27	chr6:27447153-27447203	Jurkat	blood:	n/a
28	chr6:27440984-27441034	HL-60	blood:	n/a
29	chr6:27441298-27441348	GM12891	blood:	n/a
30	chr6:27441061-27441111	NHBE	bronchial:	n/a
31	chr6:27440949-27440999	HRPEpiC	eye:	n/a
32	chr6:27441043-27441093	HEK293	kidney:	embryo
33	chr6:27436870-27436920	NB4	blood:	n/a
34	chr6:27440806-27440856	Caco-2	colon:	n/a
35	chr6:27441300-27441350	U87	brain:	n/a
36	chr6:27440625-27440675	A549	lung:	n/a
37	chr6:27440806-27440856	HIPEpiC	eye:	n/a
38	chr6:27440482-27440532	HUVEC	blood vessel:	n/a
39	chr6:27446665-27446715	AG04449	skin:	fetal
40	chr6:27441300-27441350	BJ	skin:	n/a
41	chr6:27447371-27447421	CMK	blood:	n/a
42	chr6:27447492-27447542	HRPEpiC	eye:	n/a
43	chr6:27440806-27440856	Jurkat	blood:	n/a
44	chr6:27446665-27446715	HIPEpiC	eye:	n/a
45	chr6:27447446-27447496	HUVEC	blood vessel:	n/a
46	chr6:27447371-27447421	NHDF-neo	bronchial:	n/a
47	chr6:27442106-27442156	RPTEC	kidney:	n/a
48	chr6:27447371-27447421	HRE	kidney:	n/a
49	chr6:27441061-27441111	HepG2	liver:	n/a
50	chr6:27447492-27447542	SKMC	muscle:	n/a

(count:60 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:27279187..27280995-chr6:27439360..27441808,2	MCF-7	breast:
2	chr6:27403637..27406205-chr6:27438159..27440305,2	K562	blood:
3	chr6:27445490..27447223-chr6:27448748..27451759,4	K562	blood:
4	chr6:27445490..27447467-chr6:27449850..27451759,2	K562	blood:
5	chr6:27427630..27430892-chr6:27435526..27437127,4	K562	blood:
6	chr6:27437660..27440966-chr6:27860702..27863841,3	K562	blood:
7	chr6:26158037..26160369-chr6:27440864..27442625,2	K562	blood:
8	chr6:27445186..27449983-chr6:27468978..27472948,6	K562	blood:
9	chr6:27445490..27447467-chr6:27449850..27451759,2	K562	blood:
10	chr6:27217841..27219766-chr6:27445858..27447970,2	K562	blood:
11	chr6:27417734..27419835-chr6:27434230..27437154,2	K562	blood:
12	chr6:27299766..27302375-chr6:27444830..27446395,2	K562	blood:
13	chr6:27443187..27445951-chr6:27477606..27480333,4	K562	blood:
14	chr6:27446703..27448250-chr6:27484591..27486266,2	MCF-7	breast:
15	chr6:27410926..27413386-chr6:27436800..27439275,2	K562	blood:
16	chr6:27264044..27265873-chr6:27450054..27451666,2	MCF-7	breast:
17	chr6:27278606..27280267-chr6:27443995..27446330,2	K562	blood:
18	chr6:27449659..27451510-chr6:27459264..27461160,2	K562	blood:
19	chr6:27440158..27442625-chr6:27445156..27448200,3	MCF-7	breast:
20	chr6:27356277..27359093-chr6:27439899..27443040,4	MCF-7	breast:
21	chr6:27114670..27118026-chr6:27440668..27442830,6	K562	blood:
22	chr6:27445045..27447586-chr6:27780627..27782678,2	MCF-7	breast:
23	chr6:27446661..27447608-chr6:99962487..99963008,2	Hela-S3	cervix:
24	chr6:27444179..27448029-chr6:27462358..27468433,6	K562	blood:
25	chr6:27426149..27428000-chr6:27437055..27440025,2	K562	blood:
26	chr6:27434893..27436769-chr6:27444407..27446972,3	K562	blood:
27	chr17:27620836..27621586-chr6:27440083..27440798,2	NB4	blood:
28	chr6:27354651..27357206-chr6:27439212..27442131,3	K562	blood:
29	chr6:27096577..27099024-chr6:27436212..27439059,2	K562	blood:
30	chr6:27434557..27436351-chr6:27436388..27438745,2	MCF-7	breast:
31	chr6:27434557..27436351-chr6:27436388..27438745,2	MCF-7	breast:
32	chr6:27445237..27448966-chr6:27511451..27515137,4	K562	blood:
33	chr17:41392578..41393534-chr6:27446811..27447663,2	Hela-S3	cervix:
34	chr6:27436780..27444180-chr6:27444326..27451609,21	K562	blood:
35	chr6:27112142..27119511-chr6:27439134..27442830,9	K562	blood:
36	chr6:27447854..27450536-chr6:27461434..27464293,2	K562	blood:
37	chr6:27217585..27220597-chr6:27438809..27440860,3	K562	blood:
38	chr6:27356379..27358071-chr6:27446132..27448857,2	K562	blood:
39	chr14:20937117..20938114-chr6:27440193..27441006,2	Hela-S3	cervix:
40	chr6:27444529..27447552-chr6:27720507..27722383,3	K562	blood:
41	chr6:27143738..27145587-chr6:27441019..27442990,2	K562	blood:
42	chr6:27440673..27441407-chr8:26239890..26240760,2	Hela-S3	cervix:
43	chr6:27447039..27449538-chr6:27803021..27805992,2	K562	blood:
44	chr6:27443641..27445156-chr6:27470479..27473183,2	K562	blood:
45	chr6:27448063..27450076-chr6:27455844..27457451,2	K562	blood:
46	chr6:27447703..27449538-chr6:27803629..27805992,2	K562	blood:
47	chr6:27435057..27436916-chr6:27758569..27760207,2	K562	blood:
48	chr6:27148927..27151021-chr6:27440997..27443273,2	K562	blood:
49	chr6:27434893..27436769-chr6:27444407..27446972,3	K562	blood:
50	chr6:27445180..27448158-chr6:27859004..27861721,2	K562	blood:

No data

Variant related genes	Relation type
ZNF184	TF binding region
ZNF184	CpG island
ENSG00000228451	chromatin interactions
ENSG00000124613	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000096654	chromatin interactions
ENSG00000158553	chromatin interactions
ENSG00000104765	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000112812	chromatin interactions
ENSG00000115970	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000198805	chromatin interactions
ENSG00000271755	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000182611	chromatin interactions
ENSG00000108256	chromatin interactions

Extended variants
information (count: 559 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6920408	chr6:27434220-27434221	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549943210	chr6:27434247-27434248	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150949649	chr6:27434269-27434270	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558187308	chr6:27434277-27434278	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190063572	chr6:27434357-27434358	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13191622	chr6:27434363-27434364	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12189989	chr6:27434369-27434370	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13191628	chr6:27434372-27434373	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561902325	chr6:27434378-27434379	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181767652	chr6:27434379-27434380	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368954460	chr6:27434380-27434381	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6920733	chr6:27434387-27434388	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs570581494	chr6:27434389-27434390	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs6921071	chr6:27434442-27434443	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs201643169	chr6:27434457-27434458	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140802400	chr6:27434482-27434483	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370901448	chr6:27434483-27434484	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536925542	chr6:27434504-27434505	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113950530	chr6:27434542-27434543	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111864156	chr6:27434560-27434561	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567263982	chr6:27434566-27434567	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565985804	chr6:27434569-27434570	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141427056	chr6:27434692-27434693	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557898657	chr6:27434732-27434733	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs73741737	chr6:27434734-27434735	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs4713104	chr6:27434779-27434780	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs557124941	chr6:27434842-27434843	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573966110	chr6:27434857-27434858	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543000937	chr6:27434878-27434879	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs150253190	chr6:27434879-27434880	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs4711153	chr6:27434909-27434910	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs4713105	chr6:27434920-27434921	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs186391955	chr6:27434944-27434945	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs532912761	chr6:27434947-27434948	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549844556	chr6:27434956-27434957	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569609843	chr6:27434957-27434958	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs57583770	chr6:27434974-27434975	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528884658	chr6:27434980-27434981	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs548543954	chr6:27435010-27435011	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12211424	chr6:27435024-27435025	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs371319928	chr6:27435093-27435094	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138885074	chr6:27435100-27435101	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557960114	chr6:27435140-27435141	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs148972632	chr6:27435145-27435146	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs77642265	chr6:27435163-27435164	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112670989	chr6:27435177-27435178	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs138350597	chr6:27435237-27435238	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543064145	chr6:27435251-27435252	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553366908	chr6:27435258-27435259	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs374672068	chr6:27435272-27435273	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Hodgkin''s lymphoma	17606441	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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1121 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27412600-27438000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:27415400-27438600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:27424000-27439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:27425000-27438800	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:27425200-27435000	Weak transcription	Right Ventricle	heart
6	chr6:27425400-27435200	Weak transcription	Brain Substantia Nigra	brain
7	chr6:27425400-27438400	Weak transcription	Fetal Brain Male	brain
8	chr6:27425600-27439400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:27426400-27438200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr6:27426600-27438200	Strong transcription	Fetal Thymus	thymus
11	chr6:27427800-27440000	Weak transcription	Esophagus	oesophagus
12	chr6:27428400-27434800	Weak transcription	HUVEC	blood vessel
13	chr6:27428400-27438800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:27428800-27434800	Weak transcription	Gastric	stomach
15	chr6:27428800-27437800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:27428800-27439800	Weak transcription	Pancreas	Pancrea
17	chr6:27429000-27434600	Weak transcription	NHEK	skin
18	chr6:27429000-27435000	Weak transcription	Aorta	Aorta
19	chr6:27429000-27435200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:27429200-27435000	Strong transcription	Thymus	Thymus
21	chr6:27429200-27437400	Weak transcription	Small Intestine	intestine
22	chr6:27429400-27434400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:27429400-27434800	Weak transcription	Spleen	Spleen
24	chr6:27429400-27437200	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr6:27429400-27439000	Weak transcription	Stomach Mucosa	stomach
26	chr6:27429600-27434800	Weak transcription	Ovary	ovary
27	chr6:27429600-27435000	Weak transcription	Lung	lung
28	chr6:27429600-27437800	Weak transcription	Fetal Heart	heart
29	chr6:27429600-27439800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:27429600-27440000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:27429600-27440000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:27429800-27434400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:27429800-27434600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr6:27429800-27435400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr6:27429800-27436200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:27429800-27439000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:27429800-27439800	Weak transcription	Colonic Mucosa	Colon
38	chr6:27430000-27434400	Weak transcription	NH-A	brain
39	chr6:27430000-27436200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr6:27430000-27438400	Weak transcription	HepG2	liver
41	chr6:27430000-27438800	Weak transcription	Brain Angular Gyrus	brain
42	chr6:27430400-27436200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:27430600-27435000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:27430800-27434800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:27430800-27437000	Strong transcription	Fetal Lung	lung
46	chr6:27431200-27435600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr6:27431200-27436400	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:27431200-27437600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:27431200-27437800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr6:27431200-27438000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links