Variant report

Variant	esv10446
Chromosome Location	chr6:12008060-12013799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:12010794-12011811	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:12013368-12013886	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:12007786-12008220	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:12008456-12009227	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:12012993-12013095	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:12013373-12014695	K562	blood:	n/a	n/a
7	ARID3A	chr6:12007783-12009305	K562	blood:	n/a	n/a
8	ARID3A	chr6:12011582-12011705	K562	blood:	n/a	n/a
9	ATF1	chr6:12011060-12011818	K562	blood:	n/a	chr6:12011566-12011580
10	ATF2	chr6:12010890-12011328	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr6:12008726-12009363	GM12878	blood:	n/a	n/a
12	ATF2	chr6:12010929-12011363	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr6:12010834-12011893	GM12878	blood:	n/a	chr6:12011566-12011580
14	ATF2	chr6:12009601-12010786	GM12878	blood:	n/a	n/a
15	ATF2	chr6:12011372-12011784	H1-hESC	embryonic stem cell:	n/a	chr6:12011566-12011580
16	ATF2	chr6:12008348-12009382	GM12878	blood:	n/a	n/a
17	ATF2	chr6:12013004-12013821	GM12878	blood:	n/a	n/a
18	ATF2	chr6:12013156-12013740	GM12878	blood:	n/a	n/a
19	ATF2	chr6:12010841-12011813	GM12878	blood:	n/a	chr6:12011566-12011580
20	ATF2	chr6:12011507-12011774	H1-hESC	embryonic stem cell:	n/a	chr6:12011566-12011580
21	ATF3	chr6:12011370-12011801	K562	blood:	n/a	chr6:12011567-12011577 chr6:12011570-12011577 chr6:12011567-12011580 chr6:12011567-12011580 chr6:12011569-12011580 chr6:12011568-12011579 chr6:12011569-12011577 chr6:12011566-12011579 chr6:12011568-12011581 chr6:12011566-12011581 chr6:12011570-12011580 chr6:12011568-12011579 chr6:12011570-12011580 chr6:12011567-12011577
22	ATF3	chr6:12011613-12011737	GM12878	blood:	n/a	n/a
23	ATF3	chr6:12011528-12011749	HepG2	liver:	n/a	chr6:12011567-12011577 chr6:12011570-12011577 chr6:12011567-12011580 chr6:12011567-12011580 chr6:12011569-12011580 chr6:12011568-12011579 chr6:12011569-12011577 chr6:12011566-12011579 chr6:12011568-12011581 chr6:12011566-12011581 chr6:12011570-12011580 chr6:12011568-12011579 chr6:12011570-12011580 chr6:12011567-12011577
24	ATF3	chr6:12011554-12011796	K562	blood:	n/a	chr6:12011567-12011577 chr6:12011570-12011577 chr6:12011567-12011580 chr6:12011567-12011580 chr6:12011569-12011580 chr6:12011568-12011579 chr6:12011569-12011577 chr6:12011566-12011579 chr6:12011568-12011581 chr6:12011566-12011581 chr6:12011570-12011580 chr6:12011568-12011579 chr6:12011570-12011580 chr6:12011567-12011577
25	BACH1	chr6:12013319-12013861	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr6:12009108-12009171	K562	blood:	n/a	n/a
27	BACH1	chr6:12010642-12010722	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr6:12009094-12009687	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr6:12009585-12009939	K562	blood:	n/a	n/a
30	BATF	chr6:12011080-12011627	GM12878	blood:	n/a	chr6:12011567-12011580 chr6:12011445-12011453
31	BATF	chr6:12011160-12011582	GM12878	blood:	n/a	chr6:12011567-12011580 chr6:12011445-12011453
32	BATF	chr6:12008498-12008946	GM12878	blood:	n/a	n/a
33	BATF	chr6:12009042-12009281	GM12878	blood:	n/a	n/a
34	BCL11A	chr6:12010920-12011787	GM12878	blood:	n/a	chr6:12011543-12011556
35	BCL11A	chr6:12010848-12011768	GM12878	blood:	n/a	chr6:12011543-12011556
36	BCL3	chr6:12011051-12012168	GM12878	blood:	n/a	chr6:12011543-12011556
37	BCL3	chr6:12008640-12009406	GM12878	blood:	n/a	chr6:12009244-12009253 chr6:12009311-12009324 chr6:12009311-12009324
38	BCLAF1	chr6:12010472-12011690	GM12878	blood:	n/a	chr6:12011543-12011556
39	BCLAF1	chr6:12008409-12009390	GM12878	blood:	n/a	chr6:12009244-12009253 chr6:12009311-12009324 chr6:12009311-12009324
40	BCLAF1	chr6:12012885-12013788	GM12878	blood:	n/a	chr6:12013324-12013333 chr6:12013494-12013503 chr6:12013318-12013327 chr6:12013321-12013330
41	BCLAF1	chr6:12008256-12009364	GM12878	blood:	n/a	chr6:12009244-12009253 chr6:12009311-12009324 chr6:12009311-12009324
42	BCLAF1	chr6:12009970-12011802	GM12878	blood:	n/a	chr6:12010218-12010227 chr6:12011543-12011556
43	BCLAF1	chr6:12009398-12009828	GM12878	blood:	n/a	n/a
44	BCLAF1	chr6:12012862-12013824	GM12878	blood:	n/a	chr6:12013324-12013333 chr6:12013494-12013503 chr6:12013318-12013327 chr6:12013321-12013330
45	BHLHE40	chr6:12012965-12013174	K562	blood:	n/a	n/a
46	BHLHE40	chr6:12010710-12012448	GM12878	blood:	n/a	chr6:12012009-12012025
47	BHLHE40	chr6:12008611-12009779	HepG2	liver:	n/a	chr6:12009310-12009326
48	BHLHE40	chr6:12012942-12013812	GM12878	blood:	n/a	chr6:12013211-12013227
49	BHLHE40	chr6:12010960-12012447	HepG2	liver:	n/a	chr6:12012009-12012025
50	BHLHE40	chr6:12008368-12009828	GM12878	blood:	n/a	chr6:12009310-12009326

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:12012551-12012601	HEEpiC	esophagus:	n/a
2	chr6:12011181-12011231	RPTEC	kidney:	n/a
3	chr6:12012551-12012601	RPTEC	kidney:	n/a
4	chr6:12013214-12013264	HL-60	blood:	n/a
5	chr6:12009578-12009628	RPTEC	kidney:	n/a
6	chr6:12012554-12012604	SAEC	small airway:	n/a
7	chr6:12012057-12012107	IMR90	lung:	fetal
8	chr6:12012554-12012604	RPTEC	kidney:	n/a
9	chr6:12011930-12011980	LNCaP	prostate:	n/a
10	chr6:12008908-12008958	A549	lung:	n/a
11	chr6:12012580-12012630	RPTEC	kidney:	n/a
12	chr6:12011312-12011362	Hepatocyte	liver:	n/a
13	chr6:12013214-12013264	BJ	skin:	n/a
14	chr6:12013002-12013052	NT2-D1	testis:	n/a
15	chr6:12012551-12012601	BE2_C	brain:	n/a
16	chr6:12009578-12009628	NHDF-neo	bronchial:	n/a
17	chr6:12011181-12011231	AoSMC	blood vessel:	n/a
18	chr6:12011312-12011362	U87	brain:	n/a
19	chr6:12012057-12012107	SK-N-SH_RA	brain:	n/a
20	chr6:12012554-12012604	MCF10A-Er-Src	breast:	n/a
21	chr6:12012057-12012107	ProgFib	skin:	n/a
22	chr6:12012554-12012604	HRE	kidney:	n/a
23	chr6:12012569-12012619	ECC-1	luminal epithelium:	n/a
24	chr6:12010960-12011010	HRPEpiC	eye:	n/a
25	chr6:12012580-12012630	Jurkat	blood:	n/a
26	chr6:12012261-12012311	AG09309	skin:	n/a
27	chr6:12010960-12011010	GM12892	blood:	n/a
28	chr6:12013214-12013264	GM19239	blood:	n/a
29	chr6:12010960-12011010	Jurkat	blood:	n/a
30	chr6:12012242-12012292	HEEpiC	esophagus:	n/a
31	chr6:12009163-12009213	HL-60	blood:	n/a
32	chr6:12012057-12012107	Hepatocyte	liver:	n/a
33	chr6:12012057-12012107	ECC-1	luminal epithelium:	n/a
34	chr6:12012057-12012107	CMK	blood:	n/a
35	chr6:12012057-12012107	AG04450	lung:	fetal
36	chr6:12012261-12012311	HCT-116	colon:	n/a
37	chr6:12011181-12011231	AG10803	skin:	n/a
38	chr6:12012261-12012311	GM12891	blood:	n/a
39	chr6:12012057-12012107	HIPEpiC	eye:	n/a
40	chr6:12013214-12013264	A549	lung:	n/a
41	chr6:12011181-12011231	HRE	kidney:	n/a
42	chr6:12013467-12013517	HRE	kidney:	n/a
43	chr6:12008851-12008901	HNPCEpiC	eye:	n/a
44	chr6:12012551-12012601	HUVEC	blood vessel:	n/a
45	chr6:12013467-12013517	PrEC	prostate:	n/a
46	chr6:12011181-12011231	GM19239	blood:	n/a
47	chr6:12011930-12011980	HNPCEpiC	eye:	n/a
48	chr6:12012551-12012601	Caco-2	colon:	n/a
49	chr6:12009578-12009628	BJ	skin:	n/a
50	chr6:12012544-12012594	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:11990522..11992970-chr6:12011349..12014154,2	MCF-7	breast:
2	chr6:11990349..11993299-chr6:12011133..12012920,2	MCF-7	breast:
3	chr6:11796589..11798464-chr6:12010178..12011844,2	K562	blood:
4	chr6:12008600..12009379-chr6:43737966..43738894,2	Hela-S3	cervix:
5	chr6:12009898..12015137-chr6:12286715..12292291,9	MCF-7	breast:
6	chr6:12009134..12010743-chr6:12145646..12148619,2	MCF-7	breast:
7	chr6:11733150..11736062-chr6:12007778..12010289,2	K562	blood:
8	chr17:41465688..41466547-chr6:12012651..12013455,2	Hela-S3	cervix:
9	chr11:76155540..76156298-chr6:12010242..12011092,2	Hela-S3	cervix:
10	chr13:53024029..53024646-chr6:12008218..12008734,2	Hela-S3	cervix:
11	chr19:15442596..15443457-chr6:12008582..12009195,2	Hela-S3	cervix:
12	chr21:46237768..46238593-chr6:12009330..12009875,2	Hela-S3	cervix:
13	chr11:71791436..71791948-chr6:12009007..12009560,2	Hela-S3	cervix:
14	chr6:12009789..12012137-chr6:12043704..12046977,3	MCF-7	breast:
15	chr6:12010419..12012181-chr6:12045001..12046641,2	K562	blood:
16	chr6:11766943..11769804-chr6:12011580..12013984,2	MCF-7	breast:
17	chr6:11935076..11937337-chr6:12009000..12010923,2	K562	blood:
18	chr6:11873602..11875677-chr6:12009027..12011838,2	K562	blood:
19	chr6:12013025..12015246-chr6:12052001..12053535,2	K562	blood:
20	chr12:57029606..57030383-chr6:12008234..12009003,2	Hela-S3	cervix:
21	chr6:11766544..11768808-chr6:12011516..12013304,2	MCF-7	breast:
22	chr13:111268194..111268777-chr6:12010640..12011635,2	Hela-S3	cervix:
23	chr6:11922704..11924727-chr6:12009251..12011603,2	K562	blood:
24	chr16:284763..285582-chr6:12011450..12012007,2	Hela-S3	cervix:
25	chr6:11804488..11807450-chr6:12008603..12011488,3	MCF-7	breast:
26	chr6:12012948..12015001-chr6:12120385..12122503,2	K562	blood:
27	chr6:11880134..11882606-chr6:12009831..12012097,2	K562	blood:
28	chr6:12009262..12013340-chr6:12286174..12290698,6	MCF-7	breast:
29	chr6:12008844..12009838-chr7:134854735..134855590,2	Hela-S3	cervix:
30	chr6:11766846..11771135-chr6:12008831..12011747,3	K562	blood:
31	chr15:78556049..78556549-chr6:12008716..12009219,2	Hela-S3	cervix:
32	chr6:11918788..11920525-chr6:12013699..12015737,2	K562	blood:
33	chr6:11916741..11918485-chr6:12009414..12011071,2	K562	blood:
34	chr6:12012615..12014347-chr6:20401319..20403789,2	K562	blood:
35	chr11:66383680..66384551-chr6:12008610..12009525,2	Hela-S3	cervix:
36	chr16:4475034..4475714-chr6:12008711..12009473,2	Hela-S3	cervix:
37	chr6:11865768..11869319-chr6:12009325..12011874,4	K562	blood:
38	chr6:11990947..11994181-chr6:12007149..12010077,3	K562	blood:
39	chr1:109968661..109969227-chr6:12008493..12009023,2	Hela-S3	cervix:
40	chr6:11865768..11868889-chr6:12009325..12011874,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIVEP1-1	chr6:12008174-12008222	ENSG00000229896.1
2	lnc-HIVEP1-1	chr6:12008103-12008222	ENSG00000229896.2
3	lnc-C6orf105-5	chr6:12007817-12008266	NONHSAT107775
4	lnc-HIVEP1-1	chr6:12008512-12008853	XLOC_005174
5	lnc-HIVEP1-1	chr6:12008512-12008876	ENSG00000229896.2
6	lnc-HIVEP1-1	chr6:12008512-12008675	XLOC_005174
7	lnc-C6orf105-5	chr6:12008548-12009073	NONHSAT107775
8	lnc-HIVEP1-1	chr6:12008196-12008222	XLOC_005174
9	lnc-HIVEP1-1	chr6:12008125-12008222	XLOC_005174
10	lnc-HIVEP1-1	chr6:12008512-12009089	ENSG00000229896.1

Variant related genes	Relation type
ENSG00000229896	TF binding region
HIVEP1	TF binding region
ENSG00000229896	CpG island
HIVEP1	CpG island
ENSG00000078401	chromatin interactions
ENSG00000167930	chromatin interactions
ENSG00000158636	chromatin interactions
ENSG00000111863	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000143106	chromatin interactions
ENSG00000239306	chromatin interactions
ENSG00000136100	chromatin interactions
ENSG00000141867	chromatin interactions
ENSG00000184154	chromatin interactions
ENSG00000112715	chromatin interactions
ENSG00000140403	chromatin interactions
ENSG00000272114	chromatin interactions
ENSG00000255135	chromatin interactions
ENSG00000137497	chromatin interactions
ENSG00000259708	chromatin interactions
ENSG00000122783	chromatin interactions
ENSG00000076108	chromatin interactions
ENSG00000248643	chromatin interactions
ENSG00000262246	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000225102	chromatin interactions
ENSG00000112242	chromatin interactions
CLEC11A	miRNA target sites
KIRREL	miRNA target sites

Extended variants
information (count: 153 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534551937	chr6:12008072-12008073	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs72826011	chr6:12008078-12008079	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs56115353	chr6:12008085-12008086	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562150749	chr6:12008106-12008107	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs200603063	chr6:12008127-12008128	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs35742723	chr6:12008132-12008133	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs115194021	chr6:12008176-12008177	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs376702187	chr6:12008201-12008202	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs564657028	chr6:12008247-12008248	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
10	rs571855944	chr6:12008252-12008253	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
11	rs2296576	chr6:12008262-12008263	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs193291943	chr6:12008269-12008270	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs71706681	chr6:12008272-12008273	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs182494214	chr6:12008428-12008429	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs534300149	chr6:12008444-12008445	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs543709651	chr6:12008445-12008446	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs187764760	chr6:12008591-12008592	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs557548512	chr6:12008610-12008611	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
19	rs567811440	chr6:12008639-12008640	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
20	rs537102646	chr6:12008655-12008656	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
21	rs574407906	chr6:12008656-12008657	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
22	rs191351460	chr6:12008748-12008749	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
23	rs576935464	chr6:12008801-12008802	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
24	rs539374260	chr6:12008866-12008867	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
25	rs41273100	chr6:12008915-12008916	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573312264	chr6:12008951-12008952	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
27	rs542237866	chr6:12008961-12008962	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
28	rs562213712	chr6:12008968-12008969	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
29	rs573321318	chr6:12009133-12009134	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs183846144	chr6:12009179-12009180	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs544658293	chr6:12009181-12009182	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs4714111	chr6:12009211-12009212	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs533546590	chr6:12009230-12009231	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs13196360	chr6:12009256-12009257	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560404414	chr6:12009277-12009278	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs528122388	chr6:12009323-12009324	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs547784428	chr6:12009354-12009355	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs578108098	chr6:12009355-12009356	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs567676542	chr6:12009357-12009358	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs548498605	chr6:12009359-12009360	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs573147284	chr6:12009362-12009363	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs530537076	chr6:12009402-12009403	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs550623455	chr6:12009478-12009479	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs187026901	chr6:12009551-12009552	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs77090747	chr6:12009562-12009563	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs114413521	chr6:12009601-12009602	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs368885095	chr6:12009621-12009622	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs147016340	chr6:12009639-12009640	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs192083931	chr6:12009647-12009648	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs370062616	chr6:12009650-12009651	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:738 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11999600-12008400	Weak transcription	Psoas Muscle	Psoas
2	chr6:12001600-12008400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:12001800-12008200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:12001800-12008400	Weak transcription	Osteobl	bone
5	chr6:12002000-12008200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:12002000-12008200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:12002200-12008400	Weak transcription	Adipose Nuclei	Adipose
8	chr6:12002200-12008400	Weak transcription	Fetal Brain Female	brain
9	chr6:12007000-12008200	Enhancers	Fetal Intestine Large	intestine
10	chr6:12007200-12008200	Enhancers	Fetal Heart	heart
11	chr6:12007200-12008200	Enhancers	Fetal Intestine Small	intestine
12	chr6:12007200-12008200	Enhancers	Fetal Lung	lung
13	chr6:12007200-12008600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:12007400-12008200	Enhancers	Primary hematopoietic stem cells	blood
15	chr6:12007400-12008200	Enhancers	Fetal Stomach	stomach
16	chr6:12007400-12008200	Enhancers	Pancreas	Pancrea
17	chr6:12007400-12008200	Weak transcription	NHDF-Ad	bronchial
18	chr6:12007400-12013400	Active TSS	K562	blood
19	chr6:12007600-12008400	Enhancers	Fetal Thymus	thymus
20	chr6:12007600-12008600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:12007800-12008200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:12007800-12008200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:12007800-12008200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:12007800-12008200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr6:12007800-12008200	Enhancers	Primary T cells from cord blood	blood
26	chr6:12007800-12008200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:12007800-12008200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:12007800-12008200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:12007800-12008200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:12007800-12008200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:12007800-12008200	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr6:12007800-12008200	Enhancers	HMEC	breast
33	chr6:12007800-12008400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:12007800-12008400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:12007800-12008400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr6:12007800-12008400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr6:12007800-12008400	Flanking Active TSS	Fetal Kidney	kidney
38	chr6:12007800-12008400	Weak transcription	Lung	lung
39	chr6:12007800-12008400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr6:12007800-12008400	Enhancers	Rectal Smooth Muscle	rectum
41	chr6:12007800-12008600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:12007800-12008600	Enhancers	Small Intestine	intestine
43	chr6:12007800-12008800	Flanking Active TSS	Hela-S3	cervix
44	chr6:12007800-12008800	Flanking Active TSS	NHEK	skin
45	chr6:12007800-12009800	Active TSS	Liver	Liver
46	chr6:12007800-12009800	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr6:12007800-12009800	Bivalent/Poised TSS	HepG2	liver
48	chr6:12007800-12011400	Active TSS	Fetal Muscle Trunk	muscle
49	chr6:12008000-12008200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr6:12008000-12008200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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