Variant report

Variant	rs4351876
Chromosome Location	chr12:120431695-120431696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120427220..120428828-chr12:120429667..120432120,2	MCF-7	breast:
2	chr12:120430661..120432265-chr12:120435208..120438105,2	K562	blood:
3	chr12:120426849..120430098-chr12:120430754..120434744,4	K562	blood:

Variant related genes	Relation type
ENSG00000135127	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10744747	0.97[ASN][1000 genomes]
rs10849732	0.87[EUR][1000 genomes]
rs10849735	0.87[EUR][1000 genomes]
rs11064986	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11064998	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065004	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065014	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11065017	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11065018	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12310591	0.85[EUR][1000 genomes]
rs12311327	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12320072	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12422923	0.84[EUR][1000 genomes]
rs2240311	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2393570	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2893812	0.99[ASN][1000 genomes]
rs3742044	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759399	0.81[ASN][1000 genomes]
rs3852586	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3852588	0.80[ASN][1000 genomes]
rs3886910	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3999575	0.81[ASN][1000 genomes]
rs4105713	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4767870	0.98[ASN][1000 genomes]
rs4767873	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767875	0.82[EUR][1000 genomes]
rs6490278	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490280	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6490281	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6490284	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7295717	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7298183	0.87[EUR][1000 genomes]
rs7302874	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305625	0.83[EUR][1000 genomes]
rs7306739	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7312811	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7312971	0.85[EUR][1000 genomes]
rs7314959	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7956436	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7960725	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7961738	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962812	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7971249	0.84[EUR][1000 genomes]
rs7977281	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978927	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1844134	chr12:120426469-120441443	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1845761	chr12:120426469-120441443	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv1797666	chr12:120426666-120449259	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv1807589	chr12:120426666-120449259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120428000-120432200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr12:120428400-120435600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:120428600-120445000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:120428600-120449800	Weak transcription	Brain Anterior Caudate	brain
5	chr12:120428600-120453200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:120428800-120431800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:120428800-120432400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:120428800-120433200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:120428800-120435800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:120428800-120444000	Weak transcription	NHEK	skin
11	chr12:120428800-120444200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:120428800-120447800	Weak transcription	Gastric	stomach
13	chr12:120428800-120451400	Weak transcription	HMEC	breast
14	chr12:120428800-120451600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:120429000-120436200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:120429000-120440600	Weak transcription	Fetal Brain Female	brain
17	chr12:120429000-120443800	Weak transcription	Hela-S3	cervix
18	chr12:120429000-120450000	Weak transcription	Esophagus	oesophagus
19	chr12:120429200-120436200	Weak transcription	Fetal Thymus	thymus
20	chr12:120429400-120432600	Weak transcription	GM12878-XiMat	blood
21	chr12:120429400-120432800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:120429400-120436200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:120429400-120443200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:120429400-120445200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:120429600-120436200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:120429800-120436200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:120429800-120445400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:120430000-120436400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:120430000-120437600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:120430200-120431800	Weak transcription	Primary T cells from cord blood	blood
31	chr12:120430400-120431800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:120430400-120435200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:120430400-120439800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:120430600-120432200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:120430600-120436200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:120430600-120436200	Weak transcription	Thymus	Thymus
37	chr12:120431000-120432200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links