Variant report

Variant	rs7970674
Chromosome Location	chr12:50159712-50159713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50156443..50162111-chr12:50232191..50236705,6	K562	blood:
2	chr12:50145939..50150220-chr12:50153962..50160201,9	K562	blood:
3	chr12:50135671..50138899-chr12:50159080..50162022,3	K562	blood:
4	chr12:50135904..50138542-chr12:50158281..50161269,2	MCF-7	breast:
5	chr12:50134643..50139812-chr12:50155423..50161657,9	MCF-7	breast:
6	chr12:50159154..50162859-chr12:50163370..50168392,4	MCF-7	breast:
7	chr12:50158953..50161238-chr12:50226769..50228589,2	K562	blood:

Variant related genes	Relation type
ENSG00000257730	Chromatin interaction
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1012874	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506287	0.87[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506288	0.87[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169126	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169143	0.85[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169145	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830696	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836837	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837639	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306422	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306430	0.87[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306481	0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307828	0.87[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313353	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs12313354	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314795	0.86[CEU][hapmap]
rs12315524	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317778	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1317131	0.87[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123764	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123927	0.87[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123970	0.87[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993398	0.87[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2336447	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4641552	0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55637397	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56737983	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56743994	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56906356	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56945609	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57291131	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58756176	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59261129	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60094911	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60126713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60415769	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60613973	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61281663	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298080	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74086911	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087113	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087134	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087188	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs74089557	0.86[ASN][1000 genomes]
rs74089564	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089566	1.00[ASN][1000 genomes]
rs74089570	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089573	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7487779	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7487854	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953412	0.87[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964320	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967073	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7968302	0.86[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971176	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971369	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973498	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9805063	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50146400-50159800	Strong transcription	Fetal Muscle Trunk	muscle
2	chr12:50146600-50160000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:50146600-50160800	Strong transcription	Fetal Muscle Leg	muscle
4	chr12:50146600-50160800	Strong transcription	Fetal Stomach	stomach
5	chr12:50147200-50160200	Strong transcription	Stomach Smooth Muscle	stomach
6	chr12:50147200-50161000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:50147600-50160000	Strong transcription	Fetal Intestine Small	intestine
8	chr12:50148200-50160000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:50148200-50160200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:50148200-50160200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:50148200-50160200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:50148200-50170000	Weak transcription	Right Atrium	heart
13	chr12:50148400-50160400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:50148800-50160200	Strong transcription	Colon Smooth Muscle	Colon
15	chr12:50149000-50159800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:50154200-50160000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:50155000-50160400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:50156000-50160400	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr12:50156800-50160000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:50157400-50160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:50158000-50160200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:50158000-50160200	Strong transcription	Adipose Nuclei	Adipose
23	chr12:50158200-50159800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:50158200-50160600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:50158200-50160600	Weak transcription	Small Intestine	intestine
26	chr12:50158200-50161200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:50158200-50162600	Weak transcription	Fetal Heart	heart
28	chr12:50158200-50170200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:50158400-50159800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:50158400-50159800	Weak transcription	HepG2	liver
31	chr12:50158400-50160000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:50158400-50160000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:50158400-50160200	Weak transcription	Fetal Lung	lung
34	chr12:50158400-50160600	Weak transcription	Ovary	ovary
35	chr12:50158400-50161200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:50158400-50161200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:50158400-50161600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:50158400-50161600	Weak transcription	HUVEC	blood vessel
39	chr12:50158400-50161800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr12:50158400-50161800	Weak transcription	Psoas Muscle	Psoas
41	chr12:50158400-50161800	Weak transcription	Stomach Mucosa	stomach
42	chr12:50158400-50162600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:50158400-50163400	Weak transcription	Spleen	Spleen
44	chr12:50158400-50170000	Weak transcription	Esophagus	oesophagus
45	chr12:50158400-50170200	Weak transcription	A549	lung
46	chr12:50158400-50170200	Weak transcription	K562	blood
47	chr12:50158800-50163800	Weak transcription	GM12878-XiMat	blood
48	chr12:50158800-50170200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:50158800-50170400	Weak transcription	Primary B cells from cord blood	blood
50	chr12:50158800-50181600	Weak transcription	Brain Hippocampus Middle	brain

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