Variant report

Variant	rs7953525
Chromosome Location	chr12:121116445-121116446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121114453..121120002-chr12:121123011..121126758,6	MCF-7	breast:
2	chr12:121115639..121118008-chr12:121125789..121128419,2	K562	blood:
3	chr12:121114045..121117293-chr12:121162367..121164936,3	K562	blood:
4	chr12:121114876..121117771-chr12:121122511..121125011,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122971	Chromatin interaction
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11503157	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121107200-121118200	Weak transcription	Left Ventricle	heart
2	chr12:121107400-121118200	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:121107400-121123400	Weak transcription	Right Atrium	heart
4	chr12:121108600-121118000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:121114600-121116800	Enhancers	NHEK	skin
6	chr12:121114600-121119200	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:121115200-121116800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:121115400-121116600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:121115400-121116600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:121115400-121116600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr12:121115400-121116600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:121115400-121116600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:121115400-121116600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:121115400-121116600	Enhancers	Fetal Intestine Large	intestine
15	chr12:121115400-121116600	Flanking Active TSS	GM12878-XiMat	blood
16	chr12:121115400-121116600	Enhancers	HepG2	liver
17	chr12:121115400-121116600	Enhancers	HMEC	breast
18	chr12:121115400-121116600	Enhancers	NHDF-Ad	bronchial
19	chr12:121115400-121116800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:121115400-121117600	Enhancers	Adipose Nuclei	Adipose
21	chr12:121115400-121118800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:121115600-121116600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:121115600-121116600	Enhancers	Fetal Intestine Small	intestine
24	chr12:121115600-121116600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr12:121115600-121116600	Enhancers	NH-A	brain
26	chr12:121115600-121116600	Enhancers	Osteobl	bone
27	chr12:121115600-121116800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr12:121115600-121116800	Enhancers	Primary hematopoietic stem cells	blood
29	chr12:121115600-121116800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:121115600-121116800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:121115800-121116600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:121115800-121116600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:121115800-121116600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:121115800-121116600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:121115800-121116600	Enhancers	Duodenum Mucosa	Duodenum
36	chr12:121115800-121116600	Enhancers	Placenta	Placenta
37	chr12:121115800-121116600	Enhancers	Small Intestine	intestine
38	chr12:121116000-121116600	Enhancers	Spleen	Spleen
39	chr12:121116000-121116800	Enhancers	HUVEC	blood vessel
40	chr12:121116000-121118200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:121116000-121123800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:121116000-121123800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:121116200-121116600	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr12:121116200-121122400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:121116400-121116600	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr12:121116400-121116600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr12:121116400-121116600	Enhancers	Stomach Mucosa	stomach
48	chr12:121116400-121118000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr12:121116400-121118200	Weak transcription	Fetal Thymus	thymus
50	chr12:121116400-121118200	Weak transcription	Hela-S3	cervix

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