Variant report

Variant	rs6955943
Chromosome Location	chr7:70230293-70230294
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	POLR2A	chr7:70226672-70231239	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:70225557-70231872	GM12878	blood:	n/a	n/a
3	ZEB1	chr7:70229779-70230303	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:70227666-70230807	GM12878	blood:	n/a	n/a
5	CHD2	chr7:70229946-70230363	GM12878	blood:	n/a	n/a
6	EBF1	chr7:70230243-70230443	GM12878	blood:	n/a	chr7:70230305-70230316
7	MAX	chr7:70228982-70230299	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:70230275-70230405	GM12878	blood:	n/a	n/a
9	RUNX3	chr7:70228786-70230330	GM12878	blood:	n/a	chr7:70229113-70229130
10	MTA3	chr7:70228052-70230460	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:70229330-70231957	H1-neurons	neurons:	n/a	n/a
12	ZNF143	chr7:70230256-70230306	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:70226736-70231526	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
AUTS2	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11768020	0.92[ASN][1000 genomes]
rs12671262	0.89[ASN][1000 genomes]
rs12673908	0.82[ASN][1000 genomes]
rs13227667	0.85[ASN][1000 genomes]
rs1544009	0.85[ASN][1000 genomes]
rs1569079	0.89[ASN][1000 genomes]
rs2293509	0.96[ASN][1000 genomes]
rs35363074	0.90[ASN][1000 genomes]
rs3750170	0.94[ASN][1000 genomes]
rs3829006	0.94[ASN][1000 genomes]
rs6460555	0.87[ASN][1000 genomes]
rs6460556	0.84[ASN][1000 genomes]
rs6959459	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6960426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7782110	0.91[ASN][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	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised 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	2 gene(s)	inside rSNPs	diseases
4	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv429771	chr7:70188375-70294296	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv831022	chr7:70189351-70238179	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1034308	chr7:70190293-70230601	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv538934	chr7:70190293-70230601	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1028853	chr7:70211620-70523331	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv533212	chr7:70220687-70511129	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70214800-70250000	Weak transcription	Psoas Muscle	Psoas
2	chr7:70216200-70230400	Weak transcription	Pancreas	Pancrea
3	chr7:70216800-70231000	Weak transcription	HMEC	breast
4	chr7:70217000-70230400	Weak transcription	Primary B cells from cord blood	blood
5	chr7:70218000-70230400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:70218200-70231200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:70218400-70230600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:70218600-70230600	Weak transcription	HSMMtube	muscle
9	chr7:70218600-70241600	Weak transcription	Fetal Heart	heart
10	chr7:70222000-70230400	Weak transcription	Aorta	Aorta
11	chr7:70222000-70258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:70223200-70238000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:70223400-70237400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:70224600-70231200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:70225400-70232800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:70226200-70230800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:70226400-70254800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:70226800-70231000	Weak transcription	Colonic Mucosa	Colon
19	chr7:70227000-70230600	Weak transcription	NHLF	lung
20	chr7:70227400-70233400	Strong transcription	Fetal Stomach	stomach
21	chr7:70227400-70237400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:70227400-70253000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:70227600-70230400	Enhancers	Fetal Brain Male	brain
24	chr7:70227600-70231000	Strong transcription	Fetal Intestine Large	intestine
25	chr7:70227600-70232000	Strong transcription	Fetal Intestine Small	intestine
26	chr7:70227600-70233400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:70227600-70234600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:70227600-70236600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:70227600-70237400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:70227600-70241400	Strong transcription	Dnd41	blood
31	chr7:70227800-70232400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:70228000-70231800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:70228000-70249400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:70228200-70236200	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:70228400-70230400	Weak transcription	Osteobl	bone
36	chr7:70228400-70230600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:70228400-70230800	Weak transcription	Left Ventricle	heart
38	chr7:70228400-70231000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:70228400-70231400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:70228400-70236400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr7:70228400-70250000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:70228400-70257400	Weak transcription	Right Atrium	heart
43	chr7:70228600-70230400	Weak transcription	Brain Anterior Caudate	brain
44	chr7:70228600-70230600	Weak transcription	Gastric	stomach
45	chr7:70228600-70238400	Strong transcription	Primary T cells from cord blood	blood
46	chr7:70228600-70238600	Weak transcription	Brain Angular Gyrus	brain
47	chr7:70228800-70230800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:70228800-70238000	Weak transcription	Brain Substantia Nigra	brain
49	chr7:70228800-70241600	Weak transcription	NHDF-Ad	bronchial
50	chr7:70229000-70230400	Weak transcription	Fetal Kidney	kidney

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