Variant report

Variant	rs7963874
Chromosome Location	chr12:104882004-104882005
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104879669..104882101-chr12:104882975..104884643,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10778336	0.96[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs10778337	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861225	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112078	0.95[EUR][1000 genomes]
rs1882492	0.83[TSI][hapmap]
rs1882496	0.83[JPT][hapmap]
rs1882497	0.83[JPT][hapmap]
rs1922265	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2103391	0.81[TSI][hapmap]
rs2374397	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34318061	0.87[ASN][1000 genomes]
rs34760349	0.99[ASN][1000 genomes]
rs3902812	0.94[ASN][1000 genomes]
rs4964811	0.82[JPT][hapmap]
rs6539155	0.96[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs7133503	0.94[EUR][1000 genomes]
rs7133525	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7137398	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7312273	0.83[JPT][hapmap]
rs7485263	0.83[JPT][hapmap]
rs7953577	0.96[EUR][1000 genomes]
rs7956477	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs7960741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971806	0.99[ASN][1000 genomes]
rs7976717	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv868	chr12:104858964-104895572	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1042647	chr12:104861494-104888494	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3338893	chr12:104880122-104884520	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104866600-104882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:104869200-104899600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:104872600-104882400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:104872800-104883000	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:104872800-104887000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:104873000-104887600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:104873200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:104875000-104887000	Weak transcription	Placenta	Placenta
9	chr12:104875200-104882400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:104875200-104888000	Weak transcription	HMEC	breast
11	chr12:104875200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:104875200-104897000	Weak transcription	NHEK	skin
13	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:104877800-104887000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:104878000-104885400	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:104878000-104886000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:104878400-104882600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:104878600-104882200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:104878600-104885000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:104879400-104882200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:104879400-104882600	Enhancers	Brain Anterior Caudate	brain
22	chr12:104879600-104882200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:104879600-104882600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr12:104879600-104882800	Enhancers	Pancreas	Pancrea
25	chr12:104879600-104893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:104879800-104882200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:104880000-104882200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:104880000-104882400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:104880000-104882400	Enhancers	Thymus	Thymus
30	chr12:104880000-104882600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr12:104880000-104882600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr12:104880000-104883000	Enhancers	Primary T cells from cord blood	blood
33	chr12:104880000-104883000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr12:104880000-104883000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr12:104880000-104886800	Enhancers	Fetal Thymus	thymus
36	chr12:104880000-104890800	Weak transcription	Colonic Mucosa	Colon
37	chr12:104880000-104893000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:104880000-104897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:104880200-104882600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr12:104880400-104882400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:104880400-104884000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr12:104880400-104887400	Weak transcription	Esophagus	oesophagus
43	chr12:104880600-104882600	Enhancers	Duodenum Mucosa	Duodenum
44	chr12:104880600-104884600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr12:104880600-104889000	Weak transcription	Fetal Stomach	stomach
46	chr12:104880600-104897000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:104880800-104882200	Weak transcription	Fetal Kidney	kidney
48	chr12:104880800-104882600	Enhancers	GM12878-XiMat	blood
49	chr12:104880800-104882600	Enhancers	K562	blood
50	chr12:104881000-104882200	Weak transcription	Brain Substantia Nigra	brain

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