Variant report

Variant	rs7485263
Chromosome Location	chr12:104898630-104898631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104889078..104893153-chr12:104897198..104902053,5	K562	blood:
2	chr12:104892344..104895135-chr12:104897977..104900926,3	MCF-7	breast:
3	chr12:104897397..104899517-chr12:104972120..104975034,2	K562	blood:
4	chr12:104893740..104896062-chr12:104897275..104899084,2	K562	blood:
5	chr12:104897087..104900788-chr12:104905207..104908076,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258111	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1624481	0.82[ASN][1000 genomes]
rs1882492	0.83[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1882493	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1882496	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1882497	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2103391	0.96[CEU][hapmap];0.89[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs2141859	0.85[YRI][hapmap]
rs34760349	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3902812	0.86[EUR][1000 genomes]
rs3902813	0.84[EUR][1000 genomes]
rs4964811	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7137398	0.83[JPT][hapmap]
rs7312273	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7960741	0.83[JPT][hapmap]
rs7963874	0.83[JPT][hapmap]
rs7971806	0.88[EUR][1000 genomes]
rs7976717	0.91[ASW][hapmap];0.92[CEU][hapmap];0.91[GIH][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7978035	0.87[JPT][hapmap];0.84[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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104869200-104899600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:104882600-104900600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:104887200-104903000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:104887600-104899400	Enhancers	Fetal Thymus	thymus
6	chr12:104888000-104900200	Weak transcription	Brain Substantia Nigra	brain
7	chr12:104889800-104899000	Weak transcription	Brain Anterior Caudate	brain
8	chr12:104890000-104903800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:104890400-104898800	Weak transcription	Brain Germinal Matrix	brain
10	chr12:104892600-104899200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:104892600-104900200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:104892600-104900800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:104893000-104904400	Genic enhancers	Dnd41	blood
14	chr12:104893200-104898800	Weak transcription	Placenta	Placenta
15	chr12:104893800-104900200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:104894400-104900200	Weak transcription	Fetal Lung	lung
17	chr12:104894400-104900400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:104894400-104903800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:104894800-104899400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:104894800-104900000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:104894800-104913000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:104895000-104900000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:104895000-104900200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr12:104895600-104901200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr12:104895600-104901400	Weak transcription	Primary T cells from cord blood	blood
26	chr12:104895600-104904000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:104895800-104899800	Weak transcription	Pancreas	Pancrea
28	chr12:104895800-104900200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:104896000-104899200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:104896000-104900000	Weak transcription	Small Intestine	intestine
31	chr12:104896200-104899600	Weak transcription	Fetal Brain Female	brain
32	chr12:104896400-104900200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:104897000-104899200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:104897000-104899400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
35	chr12:104897000-104900600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:104897000-104901600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:104897200-104901200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:104897400-104899200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:104897400-104899200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:104897400-104899600	Enhancers	Primary B cells from cord blood	blood
41	chr12:104897400-104905600	Enhancers	Primary B cells from peripheral blood	blood
42	chr12:104897600-104898800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:104897600-104901800	Enhancers	Fetal Heart	heart
44	chr12:104897600-104903600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:104897600-104903800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:104897600-104907800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:104897800-104899400	Enhancers	Primary T cells fromperipheralblood	blood
48	chr12:104897800-104900400	Enhancers	Duodenum Mucosa	Duodenum
49	chr12:104897800-104901600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:104898000-104899000	Enhancers	Primary hematopoietic stem cells	blood

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