Variant report

Variant	rs1217199
Chromosome Location	chr1:114157788-114157789
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	chr1:114156923..114159777-chr1:114160586..114163076,2	K562	blood:
2	chr1:114157193..114159777-chr1:114161576..114164133,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10745339	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10858000	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10858001	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10858002	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10858005	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10858007	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10858008	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10858011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10858017	0.81[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs10858018	0.82[CEU][hapmap]
rs10858019	0.81[EUR][1000 genomes]
rs11102648	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11102649	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11102651	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs11102652	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11102653	0.87[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11102654	0.90[CHB][hapmap];0.96[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11102657	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11102658	0.90[ASN][1000 genomes]
rs11102661	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11102669	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1113523	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1146180	0.83[ASN][1000 genomes]
rs1146182	0.81[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1146187	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12021513	0.92[ASN][1000 genomes]
rs12035317	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12037873	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12039224	0.92[ASN][1000 genomes]
rs12043639	0.90[ASN][1000 genomes]
rs12044534	0.81[EUR][1000 genomes]
rs12061482	0.81[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs12063216	0.81[EUR][1000 genomes]
rs12074958	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12077419	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217192	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217193	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1217200	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1217201	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217203	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1217204	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217208	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217210	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1217211	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217214	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1217215	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217221	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1217223	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217227	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1217230	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217232	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217233	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217236	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217237	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217377	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs1217380	0.81[CEU][hapmap];0.81[CHB][hapmap];0.80[EUR][1000 genomes]
rs1217396	0.81[CEU][hapmap];0.81[CHB][hapmap];0.80[EUR][1000 genomes]
rs1217412	0.81[CEU][hapmap];0.85[CHB][hapmap];0.80[EUR][1000 genomes]
rs1217413	0.81[CHB][hapmap]
rs1228280	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1230638	0.81[EUR][1000 genomes]
rs1230639	0.81[EUR][1000 genomes]
rs1230640	0.81[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs1230645	0.81[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs1230647	0.81[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs1230649	0.81[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs1230655	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1230656	0.90[ASN][1000 genomes]
rs1230658	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1230659	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1230661	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1230663	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1230671	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1230674	0.80[EUR][1000 genomes]
rs1230678	0.81[EUR][1000 genomes]
rs1230679	0.81[EUR][1000 genomes]
rs1230685	0.81[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs1230687	0.80[EUR][1000 genomes]
rs1235687	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1235688	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1237289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12565589	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1343125	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1343128	0.95[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1418957	0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1418958	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17013326	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17031716	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1743605	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1777234	0.82[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1777237	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1777238	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1777241	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1936398	0.81[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs1981319	0.81[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs2093436	0.82[EUR][1000 genomes]
rs2153977	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2295853	0.81[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs2359167	0.81[CHB][hapmap]
rs2636002	0.92[ASN][1000 genomes]
rs2636013	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs2636014	0.82[EUR][1000 genomes]
rs2797408	0.81[EUR][1000 genomes]
rs2797409	0.81[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs2797412	0.81[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs2798135	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2798138	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2884703	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2884704	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4274063	0.89[ASN][1000 genomes]
rs4423005	0.82[EUR][1000 genomes]
rs4456089	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4565712	0.81[EUR][1000 genomes]
rs4600045	0.81[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs4838997	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4839335	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61820160	0.86[ASN][1000 genomes]
rs6537792	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6537795	0.81[EUR][1000 genomes]
rs6663679	0.82[EUR][1000 genomes]
rs6689879	0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs6698586	0.81[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs6704188	0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs72687973	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72687980	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7536360	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7553188	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012324	chr1:114135133-114206843	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114100600-114173400	Weak transcription	Gastric	stomach
2	chr1:114119200-114172400	Weak transcription	Pancreas	Pancrea
3	chr1:114119200-114173000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:114124400-114172400	Weak transcription	Aorta	Aorta
5	chr1:114134600-114166400	Weak transcription	Hela-S3	cervix
6	chr1:114136800-114158800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:114139800-114160000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:114140400-114157800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:114140600-114162200	Weak transcription	NHDF-Ad	bronchial
10	chr1:114140600-114172800	Weak transcription	Colonic Mucosa	Colon
11	chr1:114140800-114162600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:114141000-114157800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:114141000-114162600	Weak transcription	Fetal Intestine Large	intestine
14	chr1:114141200-114162200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:114141400-114162400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:114145600-114160800	Weak transcription	Fetal Intestine Small	intestine
17	chr1:114146200-114163200	Weak transcription	Fetal Lung	lung
18	chr1:114147200-114163400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:114151400-114172600	Weak transcription	Ovary	ovary
20	chr1:114151800-114166400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:114153000-114163600	Weak transcription	Fetal Kidney	kidney
22	chr1:114153600-114168400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:114154000-114172400	Weak transcription	Fetal Stomach	stomach
24	chr1:114155400-114162000	Weak transcription	Liver	Liver
25	chr1:114156200-114170000	Weak transcription	Small Intestine	intestine
26	chr1:114156600-114158600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:114156600-114158600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:114156800-114158400	Enhancers	Fetal Heart	heart
29	chr1:114157000-114158000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:114157000-114158000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:114157200-114158800	Enhancers	HUVEC	blood vessel
32	chr1:114157200-114159000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:114157200-114159200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:114157400-114159000	Enhancers	Brain Germinal Matrix	brain
35	chr1:114157400-114159200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:114157400-114159400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:114157400-114159600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:114157400-114160400	Enhancers	NHEK	skin
39	chr1:114157400-114166400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:114157600-114158000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:114157600-114158400	Enhancers	Fetal Brain Female	brain
42	chr1:114157600-114159000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:114157600-114159200	Enhancers	HMEC	breast
44	chr1:114157600-114163800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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