Variant report

Variant	rs61610980
Chromosome Location	chr7:70225810-70225811
allele	A/C
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	chr7:70225557-70231872	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:70225382-70225845	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:70222449..70225424-chr7:70225544..70227809,2	MCF-7	breast:
2	chr7:70157661..70160081-chr7:70223262..70226171,2	MCF-7	breast:
3	chr7:70225764..70228069-chr7:70229252..70232083,2	K562	blood:

Variant related genes	Relation type
AUTS2	TF binding region
ENSG00000158321	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs55780867	1.00[AMR][1000 genomes]
rs56052852	1.00[AMR][1000 genomes]
rs56385226	1.00[AMR][1000 genomes]
rs57845230	1.00[AMR][1000 genomes]
rs57851676	1.00[AMR][1000 genomes]
rs57950124	1.00[AMR][1000 genomes]
rs58739898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60051730	1.00[AMR][1000 genomes]
rs60651927	1.00[AMR][1000 genomes]
rs60652185	1.00[AMR][1000 genomes]
rs60973903	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61379656	1.00[AMR][1000 genomes]
rs61424456	1.00[AMR][1000 genomes]
rs61700273	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704805	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706464	1.00[AMR][1000 genomes]
rs73706465	1.00[AMR][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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70195800-70227600	Weak transcription	Fetal Intestine Small	intestine
2	chr7:70202000-70227600	Weak transcription	Fetal Intestine Large	intestine
3	chr7:70202400-70227200	Weak transcription	Brain Angular Gyrus	brain
4	chr7:70202400-70230000	Weak transcription	Fetal Thymus	thymus
5	chr7:70205400-70227200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:70207000-70230000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:70209400-70226000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:70209800-70227600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:70209800-70227600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:70212400-70227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:70214000-70227600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:70214200-70230200	Weak transcription	NHEK	skin
13	chr7:70214400-70227400	Weak transcription	Esophagus	oesophagus
14	chr7:70214800-70227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:70214800-70227600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:70214800-70250000	Weak transcription	Psoas Muscle	Psoas
17	chr7:70215200-70227600	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:70216200-70230400	Weak transcription	Pancreas	Pancrea
19	chr7:70216800-70226200	Weak transcription	Brain Substantia Nigra	brain
20	chr7:70216800-70231000	Weak transcription	HMEC	breast
21	chr7:70217000-70230400	Weak transcription	Primary B cells from cord blood	blood
22	chr7:70217200-70229400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:70217200-70230200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:70217800-70227600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:70218000-70228200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:70218000-70230400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:70218200-70231200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:70218400-70230000	Weak transcription	NH-A	brain
29	chr7:70218400-70230600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:70218600-70230200	Weak transcription	HSMM	muscle
31	chr7:70218600-70230600	Weak transcription	HSMMtube	muscle
32	chr7:70218600-70241600	Weak transcription	Fetal Heart	heart
33	chr7:70218800-70227600	Weak transcription	Dnd41	blood
34	chr7:70218800-70228400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:70222000-70227400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:70222000-70230400	Weak transcription	Aorta	Aorta
37	chr7:70222000-70258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr7:70222200-70226200	Enhancers	Fetal Brain Male	brain
39	chr7:70222200-70229400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:70223000-70227200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr7:70223200-70229800	Weak transcription	Thymus	Thymus
42	chr7:70223200-70238000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:70223400-70228000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:70223400-70237400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:70223600-70227600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:70223800-70226000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:70223800-70227000	Enhancers	Brain Anterior Caudate	brain
48	chr7:70223800-70227200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:70223800-70227800	Weak transcription	Adipose Nuclei	Adipose
50	chr7:70223800-70230000	Weak transcription	Muscle Satellite Cultured Cells	--

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