Variant report

Variant	rs575137860
Chromosome Location	chr6:37616400-37616401
allele	G/T
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	BACH1	chr6:37616225-37616969	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr6:37616135-37616639	K562	blood:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
3	MAX	chr6:37615994-37617239	ECC-1	luminal epithelium:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
4	ZNF143	chr6:37616183-37617023	H1-hESC	embryonic stem cell:	n/a	chr6:37616713-37616731
5	SP4	chr6:37616135-37616993	H1-hESC	embryonic stem cell:	n/a	chr6:37616432-37616448 chr6:37616574-37616590 chr6:37616576-37616587 chr6:37616596-37616612 chr6:37616513-37616529
6	TAF1	chr6:37616195-37616560	H1-hESC	embryonic stem cell:	n/a	n/a
7	EGR1	chr6:37616379-37616828	ECC-1	luminal epithelium:	n/a	chr6:37616597-37616606 chr6:37616594-37616607 chr6:37616594-37616607 chr6:37616590-37616612 chr6:37616594-37616607 chr6:37616595-37616606 chr6:37616594-37616607 chr6:37616595-37616606 chr6:37616596-37616606 chr6:37616535-37616545 chr6:37616594-37616608 chr6:37616596-37616606 chr6:37616593-37616608
8	ELF1	chr6:37616297-37616524	K562	blood:	n/a	n/a
9	MAX	chr6:37616071-37617212	ECC-1	luminal epithelium:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
10	CBX3	chr6:37616208-37616597	K562	blood:	n/a	n/a
11	ZBTB7A	chr6:37616202-37616464	K562	blood:	n/a	n/a
12	GTF2F1	chr6:37616246-37616409	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP1	chr6:37616145-37616679	H1-hESC	embryonic stem cell:	n/a	chr6:37616516-37616526 chr6:37616535-37616547 chr6:37616599-37616609 chr6:37616434-37616446 chr6:37616435-37616445 chr6:37616573-37616587 chr6:37616435-37616444 chr6:37616515-37616527 chr6:37616535-37616547 chr6:37616434-37616446 chr6:37616576-37616588 chr6:37616537-37616546 chr6:37616577-37616586 chr6:37616578-37616587 chr6:37616515-37616527 chr6:37616536-37616546 chr6:37616516-37616526 chr6:37616576-37616588 chr6:37616576-37616587 chr6:37616532-37616546 chr6:37616436-37616445 chr6:37616578-37616587 chr6:37616536-37616545
14	E2F6	chr6:37616046-37617455	H1-hESC	embryonic stem cell:	n/a	chr6:37617045-37617057 chr6:37616581-37616591
15	MAX	chr6:37616278-37616535	K562	blood:	n/a	n/a
16	MAX	chr6:37616095-37617257	H1-hESC	embryonic stem cell:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
17	CREB1	chr6:37616137-37617097	H1-hESC	embryonic stem cell:	n/a	n/a
18	SP4	chr6:37616130-37617035	H1-hESC	embryonic stem cell:	n/a	chr6:37616432-37616448 chr6:37616574-37616590 chr6:37616576-37616587 chr6:37616596-37616612 chr6:37616513-37616529
19	USF2	chr6:37616384-37617054	H1-hESC	embryonic stem cell:	n/a	n/a
20	E2F6	chr6:37616082-37617257	H1-hESC	embryonic stem cell:	n/a	chr6:37617045-37617057 chr6:37616581-37616591
21	SIN3A	chr6:37616294-37616996	H1-hESC	embryonic stem cell:	n/a	n/a
22	ELF1	chr6:37616196-37616536	K562	blood:	n/a	n/a
23	E2F6	chr6:37616198-37616970	K562	blood:	n/a	chr6:37616581-37616591
24	MAX	chr6:37616220-37617108	H1-hESC	embryonic stem cell:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
25	TBP	chr6:37616209-37617039	H1-hESC	embryonic stem cell:	n/a	n/a
26	EGR1	chr6:37616350-37616821	H1-hESC	embryonic stem cell:	n/a	chr6:37616597-37616606 chr6:37616594-37616607 chr6:37616594-37616607 chr6:37616590-37616612 chr6:37616594-37616607 chr6:37616595-37616606 chr6:37616594-37616607 chr6:37616595-37616606 chr6:37616596-37616606 chr6:37616535-37616545 chr6:37616594-37616608 chr6:37616596-37616606 chr6:37616593-37616608
27	MAX	chr6:37616204-37616536	K562	blood:	n/a	n/a
28	MAX	chr6:37616076-37617391	H1-hESC	embryonic stem cell:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
29	SP1	chr6:37616129-37617050	H1-hESC	embryonic stem cell:	n/a	chr6:37616731-37616743 chr6:37616516-37616526 chr6:37616733-37616742 chr6:37616535-37616547 chr6:37616599-37616609 chr6:37616434-37616446 chr6:37616435-37616445 chr6:37616573-37616587 chr6:37616435-37616444 chr6:37616515-37616527 chr6:37616535-37616547 chr6:37616434-37616446 chr6:37616576-37616588 chr6:37616537-37616546 chr6:37616577-37616586 chr6:37616578-37616587 chr6:37616718-37616728 chr6:37616515-37616527 chr6:37616536-37616546 chr6:37616516-37616526 chr6:37616576-37616588 chr6:37616576-37616587 chr6:37616718-37616728 chr6:37616532-37616546 chr6:37616436-37616445 chr6:37616578-37616587 chr6:37616536-37616545
30	E2F6	chr6:37616197-37616563	K562	blood:	n/a	n/a

Variant related genes	Relation type
MDGA1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv10458	chr6:37616371-37618598	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37599200-37621800	Weak transcription	NHLF	lung
2	chr6:37602200-37616600	Weak transcription	Right Atrium	heart
3	chr6:37602800-37616400	Weak transcription	Ovary	ovary
4	chr6:37612600-37619800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:37614200-37621800	Weak transcription	Aorta	Aorta
6	chr6:37615400-37616400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:37615800-37616400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:37615800-37616600	Bivalent Enhancer	Colonic Mucosa	Colon
9	chr6:37615800-37617400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:37615800-37617400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:37616000-37616400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
12	chr6:37616000-37616400	Enhancers	K562	blood
13	chr6:37616000-37616600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:37616000-37616600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr6:37616000-37616600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
16	chr6:37616000-37616600	Enhancers	Gastric	stomach
17	chr6:37616000-37616800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr6:37616000-37616800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:37616000-37616800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
20	chr6:37616000-37616800	Bivalent Enhancer	Fetal Thymus	thymus
21	chr6:37616000-37617200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr6:37616000-37617200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr6:37616000-37617200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr6:37616000-37617200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:37616000-37617200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:37616000-37617400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:37616000-37618000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr6:37616000-37618200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr6:37616000-37618400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr6:37616200-37616400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
31	chr6:37616200-37616400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:37616200-37616400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr6:37616200-37616400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr6:37616200-37616400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:37616200-37616400	Enhancers	Left Ventricle	heart
36	chr6:37616200-37616400	Bivalent/Poised TSS	Right Ventricle	heart
37	chr6:37616200-37616400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
38	chr6:37616200-37616400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
39	chr6:37616200-37616400	Flanking Bivalent TSS/Enh	Spleen	Spleen
40	chr6:37616200-37616400	Enhancers	GM12878-XiMat	blood
41	chr6:37616200-37616600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
42	chr6:37616200-37616600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:37616200-37616600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:37616200-37616600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:37616200-37616600	Bivalent Enhancer	Esophagus	oesophagus
46	chr6:37616200-37616600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
47	chr6:37616200-37616600	Enhancers	HMEC	breast
48	chr6:37616200-37616800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
49	chr6:37616200-37616800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
50	chr6:37616200-37616800	Bivalent/Poised TSS	Primary T cells from cord blood	blood

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