Variant report

Variant	rs73716218
Chromosome Location	chr6:1626686-1626687
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	MAFK	chr6:1626462-1627003	IMR90	lung:	n/a	chr6:1626939-1626955 chr6:1626797-1626807 chr6:1626622-1626636
2	MAFF	chr6:1626550-1626940	HepG2	liver:	n/a	n/a
3	MAFK	chr6:1626490-1626989	HepG2	liver:	n/a	chr6:1626939-1626955 chr6:1626797-1626807 chr6:1626622-1626636
4	MAFK	chr6:1626555-1626973	HepG2	liver:	n/a	chr6:1626939-1626955 chr6:1626797-1626807 chr6:1626622-1626636
5	CEBPB	chr6:1626311-1626689	A549	lung:	n/a	chr6:1626496-1626507 chr6:1626497-1626506 chr6:1626497-1626506 chr6:1626495-1626508 chr6:1626494-1626511 chr6:1626497-1626506
6	CEBPB	chr6:1626299-1626971	IMR90	lung:	n/a	chr6:1626496-1626507 chr6:1626497-1626506 chr6:1626497-1626506 chr6:1626495-1626508 chr6:1626494-1626511 chr6:1626497-1626506
7	KAP1	chr6:1626217-1627195	HEK293	kidney:	n/a	n/a
8	CEBPB	chr6:1626312-1626688	H1-hESC	embryonic stem cell:	n/a	chr6:1626496-1626507 chr6:1626497-1626506 chr6:1626497-1626506 chr6:1626495-1626508 chr6:1626494-1626511 chr6:1626497-1626506
9	TCF7L2	chr6:1626432-1627029	HEK293	kidney:	n/a	n/a
10	CEBPB	chr6:1626236-1626723	A549	lung:	n/a	chr6:1626496-1626507 chr6:1626497-1626506 chr6:1626497-1626506 chr6:1626495-1626508 chr6:1626494-1626511 chr6:1626497-1626506
11	CEBPB	chr6:1626312-1626690	K562	blood:	n/a	chr6:1626496-1626507 chr6:1626497-1626506 chr6:1626497-1626506 chr6:1626495-1626508 chr6:1626494-1626511 chr6:1626497-1626506
12	KAP1	chr6:1626252-1627335	U2OS	brain:	n/a	n/a
13	MXI1	chr6:1626684-1626781	K562	blood:	n/a	n/a
14	MAFK	chr6:1626581-1626779	K562	blood:	n/a	chr6:1626622-1626636

Variant related genes	Relation type
GMDS	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56165114	1.00[AMR][1000 genomes]
rs58363200	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv917248	chr6:1365437-1627813	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv823394	chr6:1590091-1629146	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
15	nsv883379	chr6:1593851-1628902	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription 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
16	nsv823395	chr6:1595031-1629521	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
17	nsv883381	chr6:1595216-1628902	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
18	nsv823396	chr6:1597359-1629106	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
19	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1616800-1631400	Weak transcription	Hela-S3	cervix
2	chr6:1622600-1629000	Active TSS	Aorta	Aorta
3	chr6:1623400-1626800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:1624000-1626800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:1625200-1634000	Weak transcription	Gastric	stomach
6	chr6:1625600-1627000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:1625800-1626800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:1625800-1626800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr6:1625800-1627000	Flanking Active TSS	Osteobl	bone
10	chr6:1625800-1628000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:1625800-1639400	Weak transcription	Ovary	ovary
12	chr6:1626000-1626800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
13	chr6:1626000-1627000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr6:1626000-1627000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr6:1626000-1627000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:1626000-1627000	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
17	chr6:1626200-1627800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:1626200-1636800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:1626400-1627600	Bivalent Enhancer	HUVEC	blood vessel
20	chr6:1626400-1628800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:1626400-1633600	Weak transcription	Colonic Mucosa	Colon
22	chr6:1626400-1637000	Weak transcription	Pancreas	Pancrea
23	chr6:1626600-1629800	Weak transcription	HepG2	liver

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