Variant report

Variant	rs544078719
Chromosome Location	chr6:31744896-31744897
allele	A/G
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	NFIC	chr6:31744713-31745330	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:31744582-31745597	HepG2	liver:	n/a	n/a
3	MEF2C	chr6:31744741-31745165	GM12878	blood:	n/a	n/a
4	MTA3	chr6:31744497-31745488	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:31744643-31745287	A549	lung:	n/a	n/a
6	POU2F2	chr6:31744671-31745255	GM12878	blood:	n/a	chr6:31744785-31744797
7	EGR1	chr6:31744637-31745365	K562	blood:	n/a	chr6:31745267-31745277 chr6:31744996-31745010 chr6:31745267-31745280
8	PML	chr6:31744451-31745941	K562	blood:	n/a	n/a
9	TCF12	chr6:31744566-31745413	ECC-1	luminal epithelium:	n/a	chr6:31745221-31745231
10	CHD2	chr6:31744467-31745392	Hela-S3	cervix:	n/a	n/a
11	MAZ	chr6:31744723-31745243	GM12878	blood:	n/a	chr6:31744785-31744794
12	POU2F2	chr6:31744735-31745325	GM12891	blood:	n/a	chr6:31744785-31744797 chr6:31745250-31745262
13	CEBPD	chr6:31744488-31745413	K562	blood:	n/a	n/a
14	BACH1	chr6:31744775-31745310	K562	blood:	n/a	chr6:31745135-31745149
15	MYC	chr6:31744808-31745272	MCF-7	breast:	n/a	n/a
16	TBL1XR1	chr6:31744709-31745780	K562	blood:	n/a	n/a
17	POLR2A	chr6:31744475-31745280	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZNF263	chr6:31744459-31745552	HEK293-T-REx	kidney:	n/a	chr6:31745113-31745122
19	YY1	chr6:31744831-31745201	GM12891	blood:	n/a	n/a
20	HDAC2	chr6:31744782-31745379	MCF-7	breast:	n/a	n/a
21	TEAD4	chr6:31744215-31745882	K562	blood:	n/a	n/a
22	MYC	chr6:31744816-31745475	K562	blood:	n/a	n/a
23	ATF2	chr6:31744662-31745294	GM12878	blood:	n/a	chr6:31744920-31744934
24	MAX	chr6:31744680-31745291	NB4	blood:	n/a	chr6:31744785-31744794
25	RCOR1	chr6:31744679-31745074	HepG2	liver:	n/a	n/a
26	EBF1	chr6:31744790-31745326	GM12878	blood:	n/a	n/a
27	FOSL2	chr6:31744663-31745505	SK-N-SH	brain:	n/a	chr6:31745138-31745146
28	CREB1	chr6:31744702-31745220	H1-hESC	embryonic stem cell:	n/a	n/a
29	BCLAF1	chr6:31744727-31745294	GM12878	blood:	n/a	n/a
30	EGR1	chr6:31744861-31745135	GM12878	blood:	n/a	chr6:31744996-31745010
31	POLR2A	chr6:31744635-31745227	MCF10A-Er-Src	breast:	n/a	n/a
32	BRCA1	chr6:31744767-31745359	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr6:31744390-31745580	HL-60	blood:	n/a	n/a
34	EBF1	chr6:31744771-31745290	GM12878	blood:	n/a	n/a
35	JUND	chr6:31744559-31745694	K562	blood:	n/a	chr6:31745138-31745146 chr6:31745650-31745658
36	CEBPB	chr6:31744698-31745355	GM12878	blood:	n/a	n/a
37	FOXM1	chr6:31744659-31745333	GM12878	blood:	n/a	n/a
38	PBX3	chr6:31744397-31745510	SK-N-SH	brain:	n/a	n/a
39	MYBL2	chr6:31744611-31745377	HepG2	liver:	n/a	n/a
40	ELK1	chr6:31744601-31745458	K562	blood:	n/a	n/a
41	YY1	chr6:31744789-31745215	GM12878	blood:	n/a	chr6:31744822-31744833
42	PML	chr6:31744242-31746157	K562	blood:	n/a	n/a
43	POLR2A	chr6:31744627-31746096	K562	blood:	n/a	n/a
44	MAFK	chr6:31744810-31745699	K562	blood:	n/a	n/a
45	YY1	chr6:31744613-31745628	K562	blood:	n/a	chr6:31744822-31744833
46	MAX	chr6:31744787-31745237	GM12878	blood:	n/a	n/a
47	EP300	chr6:31744831-31745207	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:31744720-31745232	MCF-7	breast:	n/a	n/a
49	BCLAF1	chr6:31744624-31745537	K562	blood:	n/a	n/a
50	SMC3	chr6:31744807-31745655	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31508578..31511041-chr6:31743489..31745514,2	K562	blood:
2	chr6:31737226..31750413-chr6:31786206..31805473,50	MCF-7	breast:
3	chr6:31697592..31699245-chr6:31742808..31745377,2	MCF-7	breast:
4	chr6:31632664..31635327-chr6:31741807..31745187,4	MCF-7	breast:
5	chr6:31743287..31747076-chr6:31793437..31796925,5	MCF-7	breast:
6	chr6:31742555..31745004-chr6:31773789..31777145,5	MCF-7	breast:
7	chr6:31743326..31746438-chr6:31828635..31833007,4	K562	blood:
8	chr6:31696116..31699055-chr6:31743914..31747307,3	MCF-7	breast:
9	chr6:31743107..31747994-chr6:31781956..31785553,7	MCF-7	breast:
10	chr6:31508667..31511581-chr6:31742885..31745171,3	MCF-7	breast:
11	chr6:31507944..31511146-chr6:31743964..31746169,3	K562	blood:
12	chr6:31502088..31504001-chr6:31743213..31745224,2	MCF-7	breast:
13	chr6:31739355..31742514-chr6:31742775..31744985,3	MCF-7	breast:
14	chr6:31741149..31744902-chr6:31760858..31763694,5	MCF-7	breast:
15	chr6:31742944..31744994-chr6:31869511..31871431,2	K562	blood:
16	chr6:31735011..31745595-chr6:31798203..31806127,22	MCF-7	breast:
17	chr6:31743176..31746587-chr6:31939802..31942689,4	K562	blood:

Variant related genes	Relation type
VWA7	TF binding region
ENSG00000198563	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000204390	Chromatin interaction
ENSG00000204392	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000201754	Chromatin interaction
ENSG00000204366	Chromatin interaction
ENSG00000204344	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000263020	Chromatin interaction
ENSG00000204396	Chromatin interaction
ENSG00000204389	Chromatin interaction
ENSG00000213722	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000204348	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
10	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
11	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
13	nsv884426	chr6:31728102-31800868	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
14	nsv884427	chr6:31728102-31802465	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
15	nsv884428	chr6:31728102-31870326	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
16	nsv884429	chr6:31730356-31837066	Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
17	nsv884430	chr6:31731881-31800631	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
18	nsv884431	chr6:31732679-31761386	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
19	nsv601943	chr6:31733544-31763862	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	55 gene(s)	inside rSNPs	diseases
20	nsv884432	chr6:31734117-31777687	Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
21	nsv884433	chr6:31737701-31777687	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
22	nsv884434	chr6:31739881-31748110	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases
23	nsv884435	chr6:31739881-31750919	Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
24	nsv884436	chr6:31739881-31754096	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	diseases
25	nsv884437	chr6:31739881-31777687	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
26	nsv884438	chr6:31742590-31751832	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	32 gene(s)	inside rSNPs	diseases
27	nsv884439	chr6:31742590-31754096	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases
28	nsv884440	chr6:31743882-31775984	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
29	esv3370799	chr6:31743973-31748071	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31731800-31749600	Weak transcription	HUVEC	blood vessel
2	chr6:31732600-31745000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:31734600-31745200	Weak transcription	Brain Germinal Matrix	brain
4	chr6:31734600-31745400	Weak transcription	Fetal Brain Female	brain
5	chr6:31734600-31746600	Weak transcription	Brain Angular Gyrus	brain
6	chr6:31734800-31745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:31738800-31745800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:31739800-31746000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:31741000-31745600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:31741200-31745800	Weak transcription	Brain Substantia Nigra	brain
11	chr6:31741400-31745600	Weak transcription	Dnd41	blood
12	chr6:31741800-31745400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:31741800-31745600	Enhancers	Placenta	Placenta
14	chr6:31742600-31746000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:31742800-31745200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr6:31742800-31745400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:31742800-31745400	Enhancers	Esophagus	oesophagus
18	chr6:31742800-31745800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:31742800-31746400	Enhancers	Liver	Liver
20	chr6:31742800-31746400	Flanking Active TSS	HepG2	liver
21	chr6:31743000-31745800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr6:31743200-31745600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr6:31743400-31745200	Enhancers	Lung	lung
24	chr6:31743400-31745600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:31743400-31745800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:31743400-31745800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:31743600-31745000	Enhancers	Psoas Muscle	Psoas
28	chr6:31743600-31745000	Flanking Active TSS	Stomach Mucosa	stomach
29	chr6:31743600-31745800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:31743800-31745000	Enhancers	Primary B cells from peripheral blood	blood
31	chr6:31743800-31745000	Enhancers	Gastric	stomach
32	chr6:31744000-31745000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr6:31744000-31745200	Active TSS	Rectal Smooth Muscle	rectum
34	chr6:31744000-31745400	Enhancers	Thymus	Thymus
35	chr6:31744200-31745000	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr6:31744200-31745000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr6:31744200-31745200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:31744200-31745400	Enhancers	Primary B cells from cord blood	blood
39	chr6:31744200-31745400	Enhancers	Fetal Lung	lung
40	chr6:31744200-31745600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr6:31744200-31745600	Enhancers	Primary hematopoietic stem cells	blood
42	chr6:31744200-31745600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr6:31744200-31745600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr6:31744200-31745600	Flanking Active TSS	Hela-S3	cervix
45	chr6:31744200-31745800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr6:31744200-31745800	Enhancers	NH-A	brain
47	chr6:31744200-31746600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:31744200-31746600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:31744400-31745000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:31744400-31745000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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