Variant report

Variant	rs6963861
Chromosome Location	chr7:129593339-129593340
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	chr7:129592564-129593343	K562	blood:	n/a	n/a
2	CREB1	chr7:129591794-129593364	K562	blood:	n/a	chr7:129592820-129592833 chr7:129592806-129592819 chr7:129592820-129592833
3	SP1	chr7:129592568-129593364	H1-hESC	embryonic stem cell:	n/a	chr7:129592836-129592845 chr7:129592858-129592867 chr7:129592958-129592969 chr7:129592582-129592591 chr7:129592943-129592955 chr7:129592944-129592958 chr7:129592943-129592954 chr7:129592578-129592592 chr7:129592945-129592954 chr7:129592834-129592846 chr7:129592856-129592868 chr7:129592856-129592868 chr7:129592857-129592867
4	CREB1	chr7:129592140-129593437	K562	blood:	n/a	chr7:129592820-129592833 chr7:129592806-129592819 chr7:129592820-129592833
5	STAT5A	chr7:129592436-129593382	K562	blood:	n/a	chr7:129592578-129592590
6	RELA	chr7:129591816-129593351	GM12891	blood:	n/a	chr7:129592880-129592889 chr7:129593150-129593159 chr7:129592880-129592889 chr7:129593150-129593159
7	GATA1	chr7:129592350-129594080	PBDE	blood:	n/a	chr7:129593008-129593017 chr7:129593284-129593305
8	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
9	JUN	chr7:129588260-129593475	K562	blood:	n/a	chr7:129589371-129589383 chr7:129592822-129592831 chr7:129592808-129592817 chr7:129589107-129589118 chr7:129588334-129588342 chr7:129592807-129592820 chr7:129588333-129588343 chr7:129588333-129588343 chr7:129592821-129592834 chr7:129589373-129589381
10	TEAD4	chr7:129591991-129593486	K562	blood:	n/a	n/a
11	RAD21	chr7:129592581-129593339	H1-hESC	embryonic stem cell:	n/a	n/a
12	CBX3	chr7:129591963-129593350	K562	blood:	n/a	n/a
13	RUNX3	chr7:129591801-129593340	GM12878	blood:	n/a	chr7:129592506-129592523
14	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
15	TRIM28	chr7:129592450-129593404	K562	blood:	n/a	n/a
16	HCFC1	chr7:129590727-129593448	Hela-S3	cervix:	n/a	n/a
17	MAFK	chr7:129592767-129593340	K562	blood:	n/a	n/a
18	RFX5	chr7:129586524-129593512	SK-N-SH	brain:	n/a	chr7:129589159-129589168 chr7:129589157-129589173 chr7:129589156-129589170

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
UBE2H	TF binding region
ENSG00000199516	TF binding region
ENSG00000199516	Chromatin interaction
ENSG00000186591	Chromatin interaction
ENSG00000244036	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1045897	0.85[YRI][hapmap]
rs10954255	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6980213	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129590400-129593400	Active TSS	Small Intestine	intestine
2	chr7:129592000-129593400	Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr7:129592800-129593400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:129592800-129593400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:129592800-129593400	Enhancers	Colon Smooth Muscle	Colon
6	chr7:129592800-129593400	Enhancers	Fetal Thymus	thymus
7	chr7:129592800-129595400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:129592800-129595400	Weak transcription	HSMMtube	muscle
9	chr7:129592800-129595400	Weak transcription	NHDF-Ad	bronchial
10	chr7:129592800-129595600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:129592800-129598000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:129592800-129598400	Weak transcription	Right Atrium	heart
13	chr7:129592800-129598400	Weak transcription	NHLF	lung
14	chr7:129592800-129608600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:129593000-129593400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr7:129593000-129593400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr7:129593000-129593400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:129593000-129593400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:129593000-129593400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr7:129593000-129593400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr7:129593000-129593400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:129593000-129593400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:129593000-129593400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr7:129593000-129593400	Enhancers	Primary B cells from peripheral blood	blood
25	chr7:129593000-129593400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr7:129593000-129593400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr7:129593000-129593400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:129593000-129593400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr7:129593000-129593400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr7:129593000-129593400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:129593000-129593400	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr7:129593000-129593400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr7:129593000-129593400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr7:129593000-129593400	Flanking Active TSS	K562	blood
35	chr7:129593000-129593400	Enhancers	NHEK	skin
36	chr7:129593000-129594200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:129593000-129594200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:129593000-129595400	Weak transcription	Right Ventricle	heart
39	chr7:129593000-129595400	Weak transcription	NH-A	brain
40	chr7:129593000-129595600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:129593000-129598400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:129593200-129593400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr7:129593200-129593400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:129593200-129593400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:129593200-129593400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:129593200-129593400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:129593200-129593400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr7:129593200-129593400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:129593200-129593400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:129593200-129593400	Enhancers	Brain Angular Gyrus	brain

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