Variant report

Variant	rs12711794
Chromosome Location	chr2:114723191-114723192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114722980..114724600-chr2:114727124..114729506,2	K562	blood:
2	chr2:114710116..114712453-chr2:114720716..114724281,3	K562	blood:
3	chr2:114647451..114650065-chr2:114720582..114723379,2	K562	blood:
4	chr2:114717441..114718963-chr2:114722570..114724264,2	K562	blood:
5	chr2:114719759..114724600-chr2:114725495..114731130,7	K562	blood:

Variant related genes	Relation type
ENSG00000115091	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10165272	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10167298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10177263	0.93[ASN][1000 genomes]
rs10194568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10195630	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10201959	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10202134	0.93[ASN][1000 genomes]
rs10207551	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10207785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10210324	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1022412	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10496455	0.84[ASN][1000 genomes]
rs11123218	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11887418	0.96[ASN][1000 genomes]
rs11887772	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11889821	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11890727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11893418	0.93[ASN][1000 genomes]
rs11896388	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11899049	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs12464791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12466572	0.92[ASN][1000 genomes]
rs12613877	0.92[ASN][1000 genomes]
rs12618683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12711790	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13003655	0.84[AMR][1000 genomes]
rs13387553	0.96[ASN][1000 genomes]
rs13396086	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13396561	0.90[ASN][1000 genomes]
rs13405344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13405706	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13418557	0.98[ASN][1000 genomes]
rs13422248	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1403402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1467291	0.80[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1486800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1504042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1916201	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2140263	0.89[CHB][hapmap]
rs2419080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3791737	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3791739	0.92[ASN][1000 genomes]
rs3791743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4278937	0.86[ASN][1000 genomes]
rs4338971	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55810358	0.93[ASN][1000 genomes]
rs6542177	0.88[CEU][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6542178	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6542181	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6542182	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6542184	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6542186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6711858	0.92[ASN][1000 genomes]
rs6720853	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs6723415	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6726327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6729412	0.96[ASN][1000 genomes]
rs6734273	0.87[ASN][1000 genomes]
rs6734839	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6738134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6740934	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6743651	1.00[CHB][hapmap]
rs6750503	0.98[ASN][1000 genomes]
rs6761646	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7567097	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7582072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7585468	0.86[ASN][1000 genomes]
rs7603501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7603764	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9308686	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs996513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs996514	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs996515	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:114668400-114735000	Weak transcription	Stomach Mucosa	stomach
3	chr2:114672000-114723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:114682600-114723400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:114682600-114725000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:114705200-114731200	Weak transcription	Lung	lung
7	chr2:114705200-114733000	Weak transcription	Pancreas	Pancrea
8	chr2:114705200-114734200	Weak transcription	Right Ventricle	heart
9	chr2:114705200-114736000	Weak transcription	Gastric	stomach
10	chr2:114705200-114737600	Weak transcription	Esophagus	oesophagus
11	chr2:114706200-114723600	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:114706200-114723800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:114706200-114731400	Weak transcription	Aorta	Aorta
14	chr2:114706200-114731400	Weak transcription	Spleen	Spleen
15	chr2:114707400-114726800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:114709200-114731200	Weak transcription	Fetal Kidney	kidney
17	chr2:114710400-114728000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:114710400-114735800	Weak transcription	Colonic Mucosa	Colon
19	chr2:114710600-114725400	Weak transcription	Small Intestine	intestine
20	chr2:114710600-114727400	Weak transcription	Thymus	Thymus
21	chr2:114711200-114735400	Weak transcription	Fetal Lung	lung
22	chr2:114711800-114735400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:114713400-114723600	Weak transcription	Brain Substantia Nigra	brain
24	chr2:114713600-114732800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:114713800-114724200	Weak transcription	Fetal Intestine Small	intestine
26	chr2:114713800-114731400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:114713800-114732200	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:114713800-114734600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:114713800-114735200	Weak transcription	Ovary	ovary
30	chr2:114713800-114736200	Weak transcription	Fetal Stomach	stomach
31	chr2:114714400-114735200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:114714800-114723800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:114714800-114732800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:114715000-114724000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:114715000-114744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:114715200-114724000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:114715200-114724400	Weak transcription	Fetal Intestine Large	intestine
38	chr2:114715200-114728400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:114715200-114735600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:114715400-114724400	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:114715600-114723400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:114715600-114723800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:114715600-114724000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:114715600-114732800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:114715600-114734800	Weak transcription	Left Ventricle	heart
46	chr2:114715600-114735400	Weak transcription	K562	blood
47	chr2:114715600-114737000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:114715800-114723200	Weak transcription	HepG2	liver
49	chr2:114715800-114724000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:114716800-114729200	Weak transcription	Placenta	Placenta

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