Variant report

Variant	rs9391926
Chromosome Location	chr6:1630798-1630799
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	SP1	chr6:1630785-1631805	HCT-116	colon:	n/a	n/a
2	CEBPB	chr6:1630751-1631209	IMR90	lung:	n/a	chr6:1630905-1630916
3	JUN	chr6:1630688-1631437	K562	blood:	n/a	chr6:1631124-1631132 chr6:1631125-1631136 chr6:1631122-1631134 chr6:1631123-1631133 chr6:1631123-1631133
4	ZNF263	chr6:1630650-1632104	HEK293-T-REx	kidney:	n/a	chr6:1631889-1631910
5	TCF7L2	chr6:1630635-1631742	HEK293	kidney:	n/a	chr6:1631123-1631132
6	KAP1	chr6:1630576-1631594	HEK293	kidney:	n/a	n/a
7	FOSL1	chr6:1630759-1631553	HCT-116	colon:	n/a	chr6:1631122-1631133 chr6:1631124-1631132 chr6:1631125-1631136 chr6:1631122-1631134 chr6:1631123-1631133 chr6:1631123-1631133
8	KAP1	chr6:1630729-1631632	U2OS	brain:	n/a	n/a
9	JUND	chr6:1630674-1631602	HCT-116	colon:	n/a	chr6:1631124-1631132 chr6:1631125-1631136 chr6:1631122-1631134 chr6:1631123-1631133 chr6:1631123-1631133
10	JUND	chr6:1630788-1631833	HCT-116	colon:	n/a	chr6:1631124-1631132 chr6:1631125-1631136 chr6:1631122-1631134 chr6:1631123-1631133 chr6:1631123-1631133
11	SP1	chr6:1630697-1631586	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:1629509..1631369-chr6:1634844..1636670,2	K562	blood:
2	chr6:1621462..1623785-chr6:1630687..1632376,2	MCF-7	breast:

Variant related genes	Relation type
GMDS	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12527698	0.92[JPT][hapmap]
rs17134145	0.92[JPT][hapmap]
rs1962132	0.86[JPT][hapmap]
rs2492844	0.86[JPT][hapmap]
rs2569850	0.86[JPT][hapmap]
rs2814814	0.86[JPT][hapmap]
rs2814819	0.86[JPT][hapmap]
rs4323354	0.92[JPT][hapmap]
rs56099815	0.80[EUR][1000 genomes]
rs62390637	0.82[EUR][1000 genomes]
rs62390638	0.80[EUR][1000 genomes]
rs62390639	0.80[EUR][1000 genomes]
rs62390640	0.80[EUR][1000 genomes]
rs62390641	0.80[EUR][1000 genomes]
rs62390642	0.80[EUR][1000 genomes]
rs62390643	0.80[EUR][1000 genomes]
rs873708	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs873709	0.87[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024111	chr6:1231850-1730146	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1021924	chr6:1254891-1736995	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv538082	chr6:1254891-1736995	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1034039	chr6:1427061-1691837	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv538088	chr6:1427061-1691837	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
7	nsv1027393	chr6:1446300-1692019	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv538089	chr6:1446300-1692019	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv1016859	chr6:1460020-1645819	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv883376	chr6:1535043-1635082	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv491607	chr6:1580681-1951526	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv1016594	chr6:1590030-1702529	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv530888	chr6:1605768-1739933	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1616800-1631400	Weak transcription	Hela-S3	cervix
2	chr6:1625200-1634000	Weak transcription	Gastric	stomach
3	chr6:1625800-1639400	Weak transcription	Ovary	ovary
4	chr6:1626200-1636800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:1626400-1633600	Weak transcription	Colonic Mucosa	Colon
6	chr6:1626400-1637000	Weak transcription	Pancreas	Pancrea
7	chr6:1628600-1632400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:1629000-1634400	Weak transcription	Aorta	Aorta
9	chr6:1629200-1631000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:1629600-1630800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:1629800-1631000	Strong transcription	HepG2	liver
12	chr6:1629800-1636400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:1630000-1633800	Weak transcription	Lung	lung
14	chr6:1630200-1635400	Weak transcription	Right Atrium	heart
15	chr6:1630400-1631200	Enhancers	NH-A	brain
16	chr6:1630400-1631600	Enhancers	Osteobl	bone
17	chr6:1630400-1631800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:1630400-1632200	Enhancers	Placenta	Placenta
19	chr6:1630600-1630800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:1630600-1630800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:1630600-1630800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:1630600-1630800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:1630600-1631400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chr6:1630600-1631400	Enhancers	Fetal Thymus	thymus
25	chr6:1630600-1631600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr6:1630600-1632000	Enhancers	K562	blood

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