Variant report

Variant	rs6964187
Chromosome Location	chr7:129593565-129593566
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	NR2F2	chr7:129593444-129594168	K562	blood:	n/a	n/a
2	GATA1	chr7:129592350-129594080	PBDE	blood:	n/a	chr7:129593008-129593017 chr7:129593284-129593305
3	JUND	chr7:129586819-129593622	SK-N-SH	brain:	n/a	chr7:129589371-129589383 chr7:129589371-129589382 chr7:129592822-129592831 chr7:129592808-129592817 chr7:129589107-129589118 chr7:129588334-129588342 chr7:129588333-129588343 chr7:129588333-129588343 chr7:129589373-129589381
4	EP300	chr7:129587451-129593634	SK-N-SH	brain:	n/a	chr7:129588688-129588702 chr7:129592865-129592874 chr7:129589432-129589445 chr7:129591093-129591107 chr7:129592906-129592920 chr7:129587603-129587617 chr7:129587516-129587526 chr7:129589989-129589998 chr7:129590804-129590817 chr7:129592472-129592481

No.	Distal block	Cell Line	Cell type
1	chr7:129519608..129522150-chr7:129591816..129594617,2	K562	blood:
2	chr7:129589706..129593830-chr7:129648569..129652314,11	MCF-7	breast:
3	chr7:129592235..129594175-chr7:129648498..129651934,4	MCF-7	breast:
4	chr7:129592630..129594284-chr7:129646435..129649119,2	K562	blood:
5	chr7:129589344..129594008-chr7:129594437..129600591,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199516	TF binding region
UBE2H	TF binding region
ENSG00000244036	Chromatin interaction
ENSG00000199516	Chromatin interaction
ENSG00000186591	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1045896	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2464893	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62489385	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6979616	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6980213	0.81[AFR][1000 genomes]
rs7790667	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129592800-129595400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:129592800-129595400	Weak transcription	HSMMtube	muscle
3	chr7:129592800-129595400	Weak transcription	NHDF-Ad	bronchial
4	chr7:129592800-129595600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:129592800-129598000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:129592800-129598400	Weak transcription	Right Atrium	heart
7	chr7:129592800-129598400	Weak transcription	NHLF	lung
8	chr7:129592800-129608600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:129593000-129594200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:129593000-129594200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:129593000-129595400	Weak transcription	Right Ventricle	heart
12	chr7:129593000-129595400	Weak transcription	NH-A	brain
13	chr7:129593000-129595600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:129593000-129598400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:129593200-129594200	Enhancers	HepG2	liver
16	chr7:129593200-129595200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:129593200-129595200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:129593200-129595200	Weak transcription	Hela-S3	cervix
19	chr7:129593200-129595200	Weak transcription	HMEC	breast
20	chr7:129593200-129595400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:129593200-129595400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:129593200-129595400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:129593200-129595600	Weak transcription	Osteobl	bone
24	chr7:129593200-129597800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:129593200-129598000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:129593200-129598000	Weak transcription	Fetal Intestine Small	intestine
27	chr7:129593200-129598000	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:129593200-129598200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:129593200-129598200	Weak transcription	Fetal Heart	heart
30	chr7:129593200-129598200	Weak transcription	Fetal Intestine Large	intestine
31	chr7:129593200-129598200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:129593200-129598200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:129593200-129598200	Weak transcription	HSMM	muscle
34	chr7:129593200-129598400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr7:129593200-129598400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:129593200-129598400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr7:129593400-129593600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:129593400-129593800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr7:129593400-129594200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr7:129593400-129594400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:129593400-129594800	Enhancers	K562	blood
42	chr7:129593400-129595200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:129593400-129595200	Weak transcription	NHEK	skin
44	chr7:129593400-129595400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:129593400-129595400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:129593400-129595400	Weak transcription	Stomach Mucosa	stomach
47	chr7:129593400-129595400	Weak transcription	A549	lung
48	chr7:129593400-129595600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:129593400-129597600	Weak transcription	Placenta	Placenta
50	chr7:129593400-129597800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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