Variant report

Variant	rs1217210
Chromosome Location	chr1:114173800-114173801
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10745339	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10858000	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10858001	0.89[ASN][1000 genomes]
rs10858002	0.87[ASN][1000 genomes]
rs10858005	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10858007	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10858008	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10858011	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10858017	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10858018	0.90[EUR][1000 genomes]
rs10858019	0.91[EUR][1000 genomes]
rs10858021	0.85[EUR][1000 genomes]
rs11102648	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11102649	0.90[ASN][1000 genomes]
rs11102651	0.90[ASN][1000 genomes]
rs11102652	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11102653	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11102654	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11102657	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11102658	0.91[ASN][1000 genomes]
rs11102661	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11102669	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1113523	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1146180	0.86[ASN][1000 genomes]
rs1146182	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1146187	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12021513	0.93[ASN][1000 genomes]
rs12035317	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12037873	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12039224	0.93[ASN][1000 genomes]
rs12041547	0.82[EUR][1000 genomes]
rs12043639	0.90[ASN][1000 genomes]
rs12044534	0.91[EUR][1000 genomes]
rs12061482	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12063216	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12074958	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12077419	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1217192	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217193	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1217199	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1217200	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1217201	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1217203	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1217204	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1217208	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217211	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217214	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1217215	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217221	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1217223	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217226	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217227	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217228	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1217230	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1217232	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217233	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217234	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217235	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217236	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217237	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217376	0.89[EUR][1000 genomes]
rs1217377	0.90[EUR][1000 genomes]
rs1217380	0.90[EUR][1000 genomes]
rs1217388	0.88[EUR][1000 genomes]
rs1217389	0.88[EUR][1000 genomes]
rs1217395	0.88[EUR][1000 genomes]
rs1217396	0.90[EUR][1000 genomes]
rs1217407	0.86[EUR][1000 genomes]
rs1217410	0.86[EUR][1000 genomes]
rs1217412	0.89[EUR][1000 genomes]
rs1217413	0.81[EUR][1000 genomes]
rs1217421	0.86[EUR][1000 genomes]
rs1228280	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1230637	0.81[EUR][1000 genomes]
rs1230638	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1230639	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1230640	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1230645	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1230646	0.84[EUR][1000 genomes]
rs1230647	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1230649	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1230655	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1230656	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1230658	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1230659	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1230661	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1230663	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1230671	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1230674	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1230678	0.91[EUR][1000 genomes]
rs1230679	0.91[EUR][1000 genomes]
rs1230683	0.83[EUR][1000 genomes]
rs1230685	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1230687	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1235687	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1235688	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1237289	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12565589	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12566340	0.83[EUR][1000 genomes]
rs1343125	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1343128	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1418957	0.93[ASN][1000 genomes]
rs1418958	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1599971	0.88[EUR][1000 genomes]
rs17013326	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17031716	0.91[ASN][1000 genomes]
rs1743605	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1775754	0.85[EUR][1000 genomes]
rs1777234	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1777237	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1777238	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1777241	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1935838	0.88[EUR][1000 genomes]
rs1936398	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1981319	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2093436	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2153977	0.90[ASN][1000 genomes]
rs2295853	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2359167	0.82[EUR][1000 genomes]
rs2488458	0.86[EUR][1000 genomes]
rs2636002	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2636013	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2636014	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2797408	0.91[EUR][1000 genomes]
rs2797409	0.91[EUR][1000 genomes]
rs2797412	0.91[EUR][1000 genomes]
rs2798135	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2798138	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884703	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2884704	0.86[ASN][1000 genomes]
rs4145859	0.82[EUR][1000 genomes]
rs4274063	0.90[ASN][1000 genomes]
rs4423005	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4456089	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4565712	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4600045	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4838997	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4839335	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61817589	0.82[EUR][1000 genomes]
rs61820160	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6537792	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6537795	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6663679	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6689879	0.92[ASN][1000 genomes]
rs6698586	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6704188	0.93[ASN][1000 genomes]
rs72687973	0.83[ASN][1000 genomes]
rs72687980	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7529353	0.83[EUR][1000 genomes]
rs7536360	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7553188	0.94[EUR][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	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
2	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114159000-114195000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:114159200-114194800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:114161600-114184600	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:114161600-114184600	Weak transcription	HepG2	liver
5	chr1:114161800-114199800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:114162200-114184600	Weak transcription	Left Ventricle	heart
7	chr1:114169200-114189400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:114169400-114184600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:114170800-114184600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:114171200-114174400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:114171600-114241400	Weak transcription	Right Ventricle	heart
12	chr1:114172000-114174400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:114172400-114173800	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr1:114172400-114174000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:114172400-114182000	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:114172400-114184600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:114172400-114192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:114172600-114173800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:114172600-114173800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
20	chr1:114172600-114173800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:114172600-114173800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:114172600-114173800	ZNF genes & repeats	Lung	lung
23	chr1:114172600-114173800	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:114172800-114173800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:114172800-114173800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:114172800-114173800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:114172800-114173800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:114172800-114173800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:114172800-114173800	Strong transcription	Colonic Mucosa	Colon
30	chr1:114173000-114173800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:114173000-114174000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr1:114173000-114174000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:114173000-114174000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:114173000-114174000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:114173000-114174000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:114173000-114174000	Strong transcription	Fetal Intestine Large	intestine
37	chr1:114173000-114174000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:114173000-114184600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:114173000-114184600	Weak transcription	Adipose Nuclei	Adipose
40	chr1:114173000-114214400	Weak transcription	Esophagus	oesophagus
41	chr1:114173000-114226800	Weak transcription	Aorta	Aorta
42	chr1:114173200-114173800	Strong transcription	Fetal Stomach	stomach
43	chr1:114173200-114174000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr1:114173200-114184600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:114173200-114184600	Weak transcription	Ovary	ovary
46	chr1:114173400-114173800	Genic enhancers	Gastric	stomach
47	chr1:114173400-114182800	Weak transcription	Fetal Lung	lung
48	chr1:114173400-114184600	Weak transcription	Primary T cells from cord blood	blood
49	chr1:114173600-114173800	Genic enhancers	Pancreas	Pancrea
50	chr1:114173600-114173800	ZNF genes & repeats	Spleen	Spleen

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