Variant report

Variant	rs60962915
Chromosome Location	chr7:56021637-56021638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:56017138..56022365-chr7:56030961..56033857,7	MCF-7	breast:
2	chr7:56021179..56022715-chr7:56116958..56119816,2	K562	blood:
3	chr7:56018437..56023114-chr7:56029023..56035214,11	K562	blood:
4	chr7:56018165..56022272-chr7:56129856..56132253,4	K562	blood:

Variant related genes	Relation type
ENSG00000146733	Chromatin interaction
ENSG00000129103	Chromatin interaction
ENSG00000146731	Chromatin interaction
ENSG00000146729	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1059309	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1078650	0.91[ASN][1000 genomes]
rs1136390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974040	0.87[ASN][1000 genomes]
rs12154231	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12532776	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12668504	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12668532	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12669185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674334	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13231257	0.90[ASN][1000 genomes]
rs2006649	0.94[ASN][1000 genomes]
rs2289062	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2331095	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34795560	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34869068	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35791463	0.86[ASN][1000 genomes]
rs55852201	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58006921	0.95[ASN][1000 genomes]
rs58981281	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59199266	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59849749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60160896	0.90[ASN][1000 genomes]
rs6593291	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6947853	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6955639	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6975697	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73134780	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138774	0.92[ASN][1000 genomes]
rs73138777	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7456530	0.90[ASN][1000 genomes]
rs7778601	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7781165	0.90[ASN][1000 genomes]
rs7798243	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7804578	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS 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	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56020200-56026000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:56020200-56031200	Weak transcription	Brain Substantia Nigra	brain
3	chr7:56020200-56031400	Weak transcription	Small Intestine	intestine
4	chr7:56020200-56031600	Weak transcription	Aorta	Aorta
5	chr7:56020200-56031800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:56020400-56021800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:56020400-56021800	Enhancers	Liver	Liver
8	chr7:56020400-56022400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:56020400-56023000	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:56020400-56028000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:56020400-56031000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:56020400-56031200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:56020400-56031200	Weak transcription	NHDF-Ad	bronchial
14	chr7:56020400-56031400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:56020400-56031400	Weak transcription	Colonic Mucosa	Colon
16	chr7:56020400-56031400	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:56020400-56031400	Weak transcription	Esophagus	oesophagus
18	chr7:56020400-56031400	Weak transcription	Fetal Kidney	kidney
19	chr7:56020400-56031600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:56020400-56031600	Weak transcription	Psoas Muscle	Psoas
21	chr7:56020400-56031600	Weak transcription	HUVEC	blood vessel
22	chr7:56020400-56031800	Weak transcription	HSMMtube	muscle
23	chr7:56020400-56032600	Weak transcription	Fetal Lung	lung
24	chr7:56020600-56027800	Weak transcription	Thymus	Thymus
25	chr7:56020600-56030200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:56020600-56031400	Weak transcription	Primary B cells from cord blood	blood
27	chr7:56020600-56031600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:56020600-56031800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:56020800-56022000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:56020800-56022000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:56020800-56023600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:56020800-56023800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:56020800-56023800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:56020800-56023800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:56020800-56023800	Strong transcription	Fetal Intestine Small	intestine
36	chr7:56020800-56023800	Strong transcription	A549	lung
37	chr7:56020800-56024200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:56020800-56024200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:56020800-56025000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr7:56020800-56026600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr7:56020800-56031000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:56020800-56031000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:56021000-56021800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:56021000-56021800	Strong transcription	NHLF	lung
45	chr7:56021000-56022000	Enhancers	HepG2	liver
46	chr7:56021000-56022200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr7:56021000-56022600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:56021000-56022600	Strong transcription	Brain Hippocampus Middle	brain
49	chr7:56021000-56022600	Strong transcription	GM12878-XiMat	blood
50	chr7:56021000-56022800	Strong transcription	H9 Cell Line	embryonic stem cell

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