Variant report

Variant	rs12711434
Chromosome Location	chr4:147214029-147214030
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	chr4:147207605..147209216-chr4:147213050..147215531,2	K562	blood:
2	chr4:147212311..147214185-chr4:147214535..147216108,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10022940	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10050271	0.85[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs10212747	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1030777	0.82[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs10519783	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11100922	0.85[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12645587	0.81[EUR][1000 genomes]
rs13109522	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13117626	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13140054	0.92[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13143634	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1485953	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17828118	0.96[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1960018	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1991978	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2062436	0.81[CEU][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.81[EUR][1000 genomes]
rs2062437	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2062438	0.85[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2163170	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4103543	0.85[CEU][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4835291	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6537411	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6537414	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6537417	0.85[CEU][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.81[EUR][1000 genomes]
rs6813017	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6844812	0.85[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6849067	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7661938	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7689364	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs7693289	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs923166	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs962628	0.84[CEU][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9991483	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]

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	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv819040	chr4:147212242-147217906	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:147179400-147217200	Weak transcription	Left Ventricle	heart
6	chr4:147179600-147214200	Weak transcription	Dnd41	blood
7	chr4:147180400-147233200	Weak transcription	Liver	Liver
8	chr4:147188400-147215200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:147198000-147224000	Weak transcription	Fetal Intestine Small	intestine
10	chr4:147201000-147224800	Weak transcription	HMEC	breast
11	chr4:147201000-147225400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:147201000-147249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:147201600-147214600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:147204000-147220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:147205800-147217600	Weak transcription	Fetal Brain Female	brain
16	chr4:147206000-147216400	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:147206200-147217600	Weak transcription	Fetal Brain Male	brain
18	chr4:147206200-147225400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:147206800-147218000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:147207600-147216600	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:147207600-147226600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:147208200-147217000	Weak transcription	Fetal Kidney	kidney
23	chr4:147208200-147219200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:147208200-147220600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:147208200-147232800	Weak transcription	Aorta	Aorta
26	chr4:147208200-147234200	Weak transcription	Lung	lung
27	chr4:147208200-147247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:147208400-147214800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:147208400-147221600	Weak transcription	Pancreas	Pancrea
30	chr4:147208400-147222400	Weak transcription	Esophagus	oesophagus
31	chr4:147208400-147224000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:147208400-147228400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:147208400-147249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:147208400-147254600	Weak transcription	Gastric	stomach
35	chr4:147208600-147254800	Weak transcription	Adipose Nuclei	Adipose
36	chr4:147209000-147217200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:147209200-147216600	Weak transcription	Fetal Lung	lung
38	chr4:147209200-147249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:147209400-147214400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:147209400-147225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:147209400-147227800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr4:147209400-147245600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:147209600-147216600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:147209600-147222000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:147209600-147225400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:147209600-147229200	Weak transcription	Ovary	ovary
47	chr4:147209800-147222600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr4:147210400-147227800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr4:147210600-147216600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr4:147211600-147215600	Strong transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links