Variant report

Variant	rs7807739
Chromosome Location	chr7:50699557-50699558
allele	C/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	CTCF	chr7:50699474-50699566	MCF-7	breast:	n/a	chr7:50699516-50699537 chr7:50699514-50699532
2	CTCF	chr7:50699440-50699590	GM12874	blood:	n/a	chr7:50699516-50699537 chr7:50699514-50699532
3	CTCF	chr7:50699460-50699610	RPTEC	kidney:	n/a	chr7:50699516-50699537 chr7:50699514-50699532
4	TCF7L2	chr7:50699354-50699692	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr7:50699499-50699699	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr7:50699520-50699670	GM12878	blood:	n/a	n/a
7	CTCF	chr7:50699500-50699650	GM12865	blood:	n/a	chr7:50699516-50699537 chr7:50699514-50699532
8	CTCF	chr7:50699460-50699610	HRPEpiC	eye:	n/a	chr7:50699516-50699537 chr7:50699514-50699532
9	CTCF	chr7:50699460-50699610	GM12864	blood:	n/a	chr7:50699516-50699537 chr7:50699514-50699532
10	CTCF	chr7:50699440-50699590	HRPEpiC	eye:	n/a	chr7:50699516-50699537 chr7:50699514-50699532
11	CTCF	chr7:50699440-50699590	WERI-Rb-1	eye:	n/a	chr7:50699516-50699537 chr7:50699514-50699532
12	MXI1	chr7:50699336-50699689	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr7:50699420-50699570	HepG2	liver:	n/a	chr7:50699516-50699537 chr7:50699514-50699532

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50697685..50701045-chr7:50715068..50717759,3	K562	blood:

Variant related genes	Relation type
GRB10	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73113061	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
2	chr7:50681200-50699800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:50682600-50700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:50682600-50700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:50682600-50704600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:50683000-50700400	Weak transcription	A549	lung
7	chr7:50683400-50699600	Weak transcription	Colonic Mucosa	Colon
8	chr7:50683600-50700400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:50685200-50700800	Weak transcription	Osteobl	bone
10	chr7:50687400-50700600	Enhancers	Fetal Heart	heart
11	chr7:50688400-50700600	Weak transcription	K562	blood
12	chr7:50689200-50700400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:50693600-50700800	Weak transcription	NHDF-Ad	bronchial
14	chr7:50693600-50705400	Weak transcription	NH-A	brain
15	chr7:50694200-50729200	Weak transcription	Hela-S3	cervix
16	chr7:50694400-50700200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:50694600-50700200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:50694600-50700400	Weak transcription	Ovary	ovary
19	chr7:50694600-50700600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:50694600-50707800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:50694600-50708400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:50694800-50700400	Weak transcription	HUVEC	blood vessel
23	chr7:50694800-50700800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:50694800-50701000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:50695000-50700200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:50695000-50700200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:50695000-50700400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:50695000-50700800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:50695000-50701000	Enhancers	Left Ventricle	heart
30	chr7:50695000-50720600	Weak transcription	Primary T cells from cord blood	blood
31	chr7:50695200-50700200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:50695400-50700200	Weak transcription	Gastric	stomach
33	chr7:50695400-50700400	Weak transcription	Adipose Nuclei	Adipose
34	chr7:50695600-50716000	Weak transcription	Fetal Stomach	stomach
35	chr7:50695800-50701000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:50696000-50700000	Weak transcription	Placenta	Placenta
37	chr7:50696400-50700200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr7:50696400-50700400	Weak transcription	HepG2	liver
39	chr7:50696600-50700600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:50696800-50699600	Weak transcription	Fetal Intestine Large	intestine
41	chr7:50696800-50700000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:50696800-50700000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:50696800-50700800	Enhancers	Right Atrium	heart
44	chr7:50697000-50700800	Enhancers	Psoas Muscle	Psoas
45	chr7:50697400-50700000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:50697400-50700000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:50697400-50700200	Enhancers	Brain Hippocampus Middle	brain
48	chr7:50697600-50716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:50697800-50700400	Weak transcription	HSMM	muscle
50	chr7:50697800-50716800	Weak transcription	Stomach Smooth Muscle	stomach

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