Variant report

Variant	rs4290257
Chromosome Location	chr11:76190333-76190334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76185002..76188138-chr11:76188501..76191147,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10751254	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899226	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236745	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11236754	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236774	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11820030	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12271015	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278256	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12280236	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12288653	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12288707	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12293666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134872	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134897	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508754	1.00[EUR][1000 genomes]
rs2510905	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513506	1.00[EUR][1000 genomes]
rs2513507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2513509	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513519	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513521	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3758780	1.00[CHB][hapmap]
rs4245444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4421765	1.00[ASN][1000 genomes]
rs4603332	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58576354	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592638	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592643	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7105179	1.00[EUR][1000 genomes]
rs7123914	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939908	1.00[EUR][1000 genomes]
rs7945459	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1050713	chr11:76147085-76267117	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv3383733	chr11:76186353-76225544	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76157200-76191200	Weak transcription	Stomach Mucosa	stomach
2	chr11:76159800-76190400	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:76166800-76219400	Weak transcription	Small Intestine	intestine
4	chr11:76167800-76192000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:76168800-76234800	Weak transcription	Psoas Muscle	Psoas
6	chr11:76171200-76221200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:76173400-76191400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:76173400-76191600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:76173600-76191600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:76174800-76191400	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:76175400-76190400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:76177400-76195400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:76180200-76204200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:76180400-76191000	Weak transcription	HSMMtube	muscle
15	chr11:76182800-76192400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:76183800-76194400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:76184000-76190600	Weak transcription	Osteobl	bone
18	chr11:76184000-76191400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:76184200-76190400	Weak transcription	NH-A	brain
20	chr11:76184200-76191200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:76184400-76235000	Weak transcription	NHEK	skin
22	chr11:76184600-76190400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:76184800-76190400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:76184800-76190400	Weak transcription	Pancreas	Pancrea
25	chr11:76184800-76191000	Weak transcription	Esophagus	oesophagus
26	chr11:76184800-76202600	Weak transcription	Aorta	Aorta
27	chr11:76185000-76190400	Weak transcription	Gastric	stomach
28	chr11:76185000-76191200	Weak transcription	Lung	lung
29	chr11:76185000-76191600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:76185000-76204000	Weak transcription	Right Ventricle	heart
31	chr11:76185400-76190400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:76185400-76190400	Weak transcription	Brain Angular Gyrus	brain
33	chr11:76185400-76191000	Weak transcription	HMEC	breast
34	chr11:76185400-76193400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:76185600-76190400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:76185600-76190400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:76185800-76190400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr11:76186000-76190400	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:76186000-76190800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:76186200-76191600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:76186400-76190400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:76186400-76190400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:76186400-76191400	Weak transcription	Fetal Intestine Small	intestine
44	chr11:76187000-76192400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:76187200-76190400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:76187400-76190400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:76188400-76193000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:76188800-76191400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:76188800-76191800	Strong transcription	Fetal Thymus	thymus
50	chr11:76188800-76192000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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