Variant report

Variant	rs374088920
Chromosome Location	chr6:37617018-37617019
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	NRF1	chr6:37616916-37617099	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr6:37615994-37617239	ECC-1	luminal epithelium:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
3	GABPA	chr6:37616679-37617024	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF143	chr6:37616183-37617023	H1-hESC	embryonic stem cell:	n/a	chr6:37616713-37616731
5	POLR2A	chr6:37616712-37617058	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr6:37616900-37617050	HMEC	breast:	n/a	n/a
7	USF1	chr6:37616667-37617086	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr6:37616593-37617211	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF1	chr6:37616615-37617071	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr6:37616071-37617212	ECC-1	luminal epithelium:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
11	ZBTB33	chr6:37616731-37617179	K562	blood:	n/a	n/a
12	TAF7	chr6:37616622-37617020	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr6:37616046-37617455	H1-hESC	embryonic stem cell:	n/a	chr6:37617045-37617057 chr6:37616581-37616591
14	CHD2	chr6:37616401-37617056	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr6:37616095-37617257	H1-hESC	embryonic stem cell:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
16	CREB1	chr6:37616137-37617097	H1-hESC	embryonic stem cell:	n/a	n/a
17	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
18	TAF1	chr6:37616701-37617033	H1-hESC	embryonic stem cell:	n/a	n/a
19	USF2	chr6:37616384-37617054	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr6:37616956-37617036	HUVEC	blood vessel:	n/a	n/a
21	E2F6	chr6:37616082-37617257	H1-hESC	embryonic stem cell:	n/a	chr6:37617045-37617057 chr6:37616581-37616591
22	MAX	chr6:37616220-37617108	H1-hESC	embryonic stem cell:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
23	TBP	chr6:37616209-37617039	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr6:37616076-37617391	H1-hESC	embryonic stem cell:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
25	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
26	NANOG	chr6:37616781-37617042	H1-hESC	embryonic stem cell:	n/a	n/a
27	YY1	chr6:37616608-37617191	H1-hESC	embryonic stem cell:	n/a	chr6:37617058-37617072
28	EP300	chr6:37616633-37617020	H1-hESC	embryonic stem cell:	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37599200-37621800	Weak transcription	NHLF	lung
2	chr6:37612600-37619800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr6:37614200-37621800	Weak transcription	Aorta	Aorta
4	chr6:37615800-37617400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:37615800-37617400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:37616000-37617200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr6:37616000-37617200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr6:37616000-37617200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr6:37616000-37617200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:37616000-37617200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:37616000-37617400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr6:37616000-37618000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr6:37616000-37618200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:37616000-37618400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:37616200-37617200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:37616200-37617200	Bivalent Enhancer	Primary B cells from cord blood	blood
17	chr6:37616200-37617200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
18	chr6:37616200-37617200	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr6:37616200-37617200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr6:37616200-37617200	Bivalent Enhancer	Lung	lung
21	chr6:37616200-37617400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr6:37616200-37617400	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr6:37616200-37618200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr6:37616200-37618200	Enhancers	Pancreas	Pancrea
25	chr6:37616400-37617200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr6:37616400-37617200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:37616400-37617200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:37616400-37617200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
29	chr6:37616400-37617200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr6:37616400-37617400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:37616400-37618000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr6:37616400-37618200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:37616400-37618200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr6:37616600-37617200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:37616600-37617200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
36	chr6:37616600-37617200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
37	chr6:37616600-37617200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr6:37616600-37617200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:37616600-37617200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:37616600-37617200	Active TSS	Brain Anterior Caudate	brain
41	chr6:37616600-37617200	Flanking Active TSS	Ovary	ovary
42	chr6:37616600-37617200	Bivalent Enhancer	Rectal Smooth Muscle	rectum
43	chr6:37616600-37617200	Bivalent Enhancer	Small Intestine	intestine
44	chr6:37616600-37617200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr6:37616600-37617200	Flanking Active TSS	HMEC	breast
46	chr6:37616600-37617200	Bivalent Enhancer	HUVEC	blood vessel
47	chr6:37616600-37617200	Bivalent Enhancer	NH-A	brain
48	chr6:37616600-37617400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:37616800-37617200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:37616800-37617200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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