Variant report

Variant	rs1027477
Chromosome Location	chr12:60043738-60043739
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	chr12:60043349..60045324-chr12:60045758..60048550,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10506397	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10877321	0.95[CHB][hapmap]
rs10877323	1.00[CHB][hapmap]
rs10877324	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10877326	0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10877327	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11173102	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11173108	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs1693612	0.81[ASN][1000 genomes]
rs17122696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17122765	1.00[CHB][hapmap]
rs17122775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4304824	0.95[CHB][hapmap]
rs7965740	1.00[CHB][hapmap]
rs982322	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60013600-60055400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:60018800-60044400	Weak transcription	Pancreas	Pancrea
3	chr12:60020800-60044800	Weak transcription	NHDF-Ad	bronchial
4	chr12:60022400-60044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:60026600-60089200	Weak transcription	Gastric	stomach
6	chr12:60028200-60051400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:60029600-60063200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:60031000-60044200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:60031800-60044400	Weak transcription	Left Ventricle	heart
10	chr12:60031800-60050600	Weak transcription	Spleen	Spleen
11	chr12:60032000-60044200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:60034000-60061600	Weak transcription	Aorta	Aorta
13	chr12:60035000-60044800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:60036400-60045000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:60037400-60045200	Weak transcription	Hela-S3	cervix
16	chr12:60037600-60044600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:60038000-60044200	Weak transcription	Fetal Heart	heart
18	chr12:60038000-60044400	Weak transcription	Esophagus	oesophagus
19	chr12:60038200-60045400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:60039000-60044400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:60040200-60044400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:60040200-60048800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:60040200-60049000	Weak transcription	Dnd41	blood
24	chr12:60040200-60049800	Weak transcription	Primary B cells from cord blood	blood
25	chr12:60040400-60044200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:60040400-60050000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:60040400-60050000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:60040600-60044400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:60040600-60045200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:60040600-60048600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:60040600-60050400	Weak transcription	Right Ventricle	heart
32	chr12:60040600-60052400	Weak transcription	Lung	lung
33	chr12:60040600-60054000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:60040800-60045200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:60040800-60050000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:60040800-60054000	Weak transcription	Fetal Thymus	thymus
37	chr12:60041000-60044400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:60041200-60044800	Weak transcription	HUVEC	blood vessel
39	chr12:60041200-60051400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:60041800-60044400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:60042000-60044000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:60042200-60048600	Weak transcription	Primary T cells from cord blood	blood
43	chr12:60042800-60044000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:60043000-60043800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:60043200-60044000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:60043200-60044400	Weak transcription	NHLF	lung
47	chr12:60043200-60044600	Weak transcription	Liver	Liver
48	chr12:60043200-60044800	Weak transcription	Stomach Mucosa	stomach
49	chr12:60043400-60043800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:60043400-60054000	Weak transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links