Variant report

Variant	rs12531956
Chromosome Location	chr7:128369156-128369157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128356625..128358550-chr7:128367643..128370229,2	K562	blood:
2	chr7:128337315..128339391-chr7:128367756..128370722,2	K562	blood:

Variant related genes	Relation type
ENSG00000252866	Chromatin interaction
ENSG00000201041	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10954209	0.80[EUR][1000 genomes]
rs10954210	0.81[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs6951397	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6971091	0.81[CEU][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12531956	RP11-274B21.4	cis	lung	GTEx
rs12531956	CICP14	cis	Thyroid	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128349400-128378600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:128349800-128378200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:128349800-128378400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:128361600-128378600	Weak transcription	Right Atrium	heart
5	chr7:128366200-128374400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:128366800-128369200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:128366800-128369400	Enhancers	HMEC	breast
8	chr7:128366800-128369600	Enhancers	NHEK	skin
9	chr7:128367000-128370200	Enhancers	HSMM	muscle
10	chr7:128367200-128369200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:128367400-128370000	Weak transcription	Spleen	Spleen
12	chr7:128368400-128369200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:128368400-128370000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:128368400-128372600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:128368600-128369200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:128368600-128369600	Enhancers	NH-A	brain
17	chr7:128368800-128369200	Enhancers	Fetal Brain Female	brain
18	chr7:128368800-128369200	Enhancers	NHLF	lung
19	chr7:128368800-128370000	Enhancers	Osteobl	bone
20	chr7:128368800-128370200	Enhancers	Fetal Muscle Leg	muscle
21	chr7:128368800-128370400	Enhancers	Fetal Muscle Trunk	muscle
22	chr7:128368800-128370600	Enhancers	HSMMtube	muscle
23	chr7:128369000-128369400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:128369000-128369800	Enhancers	Fetal Brain Male	brain
25	chr7:128369000-128370200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:128369000-128371000	Weak transcription	K562	blood

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