Variant report

Variant	rs11211062
Chromosome Location	chr1:45440972-45440973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45284052..45287183-chr1:45440779..45443928,3	K562	blood:
2	chr1:45430590..45432812-chr1:45438899..45441605,3	K562	blood:
3	chr1:45430590..45432812-chr1:45438899..45441605,2	K562	blood:

Variant related genes	Relation type
ENSG00000202444	Chromatin interaction

Extended variants
information (count: 151 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs10157761	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159318	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes]
rs10218751	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1022814	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1114390	0.86[EUR][1000 genomes]
rs11211042	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs11211043	0.85[EUR][1000 genomes]
rs11211052	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11211061	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs114833	0.87[EUR][1000 genomes]
rs12057238	0.81[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap]
rs12080887	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12093313	1.00[CEU][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs12095412	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs12402452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402781	0.81[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap]
rs12403201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12404127	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12404168	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12405110	0.81[EUR][1000 genomes]
rs12405721	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12407290	0.89[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap]
rs12407565	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12408763	0.80[EUR][1000 genomes]
rs12410088	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12411070	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13373817	0.89[ASN][1000 genomes]
rs13374816	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1392035	0.86[EUR][1000 genomes]
rs1572379	0.88[EUR][1000 genomes]
rs1627320	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16832251	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs16832301	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes]
rs17390300	0.85[EUR][1000 genomes]
rs17390328	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes]
rs17390356	0.88[EUR][1000 genomes]
rs17390398	0.88[EUR][1000 genomes]
rs17390824	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17390859	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17390900	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17390983	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17392632	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs174636	0.86[EUR][1000 genomes]
rs2078329	0.82[EUR][1000 genomes]
rs2102035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2133501	0.87[EUR][1000 genomes]
rs2261859	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2295996	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs263960	0.87[EUR][1000 genomes]
rs263961	0.88[EUR][1000 genomes]
rs263967	0.88[EUR][1000 genomes]
rs263971	0.88[EUR][1000 genomes]
rs263979	1.00[CEU][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes]
rs263981	0.88[EUR][1000 genomes]
rs264002	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs264004	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs264006	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs264007	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs264010	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs264015	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28700974	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28707013	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28819230	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35700678	0.88[EUR][1000 genomes]
rs371098	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3738248	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes]
rs3767490	0.89[EUR][1000 genomes]
rs3795718	0.94[CEU][hapmap]
rs3889352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3889822	1.00[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3923304	0.94[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap]
rs392410	1.00[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs4073112	0.94[CEU][hapmap]
rs4082644	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41269085	0.82[EUR][1000 genomes]
rs423959	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs427392	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs435311	1.00[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4415616	0.88[EUR][1000 genomes]
rs441876	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4424549	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4472791	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4515833	0.88[EUR][1000 genomes]
rs471564	1.00[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs539409	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs546354	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55708712	0.88[EUR][1000 genomes]
rs55756712	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55792507	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55807836	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55851444	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55893665	0.88[EUR][1000 genomes]
rs55916129	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55926235	0.87[EUR][1000 genomes]
rs56102504	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57104118	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57769237	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58191426	0.88[EUR][1000 genomes]
rs59050077	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59552012	0.87[EUR][1000 genomes]
rs59559455	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59938994	0.87[EUR][1000 genomes]
rs60082006	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs606873	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60741033	0.85[EUR][1000 genomes]
rs60787198	0.87[EUR][1000 genomes]
rs608649	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61149327	0.87[EUR][1000 genomes]
rs61673889	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs637224	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs640743	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6684417	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67058449	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72674051	0.81[EUR][1000 genomes]
rs72674064	0.87[EUR][1000 genomes]
rs72674081	0.87[EUR][1000 genomes]
rs72674084	0.84[EUR][1000 genomes]
rs72676504	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72676505	0.86[EUR][1000 genomes]
rs72676509	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72676513	0.88[EUR][1000 genomes]
rs72676525	0.88[EUR][1000 genomes]
rs72676529	0.88[EUR][1000 genomes]
rs72676536	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72676539	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72676542	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72676550	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72676553	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72676555	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72676557	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72676559	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72676561	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72676563	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72676581	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72676600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72677810	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515226	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7519592	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7529213	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7529221	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7531391	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7533716	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7546853	0.88[EUR][1000 genomes]
rs9662872	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9662878	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	esv2830314	chr1:45430218-45455285	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45389200-45450200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:45392800-45443200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:45412800-45441000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:45413400-45441400	Weak transcription	Brain Anterior Caudate	brain
5	chr1:45413600-45441400	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:45413600-45442800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:45413800-45441600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:45414000-45441000	Weak transcription	Fetal Kidney	kidney
9	chr1:45414000-45441600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:45414000-45443200	Weak transcription	Pancreas	Pancrea
11	chr1:45414000-45450800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:45414000-45451000	Weak transcription	Spleen	Spleen
13	chr1:45414200-45443000	Weak transcription	Gastric	stomach
14	chr1:45416600-45443600	Weak transcription	Psoas Muscle	Psoas
15	chr1:45417600-45442000	Weak transcription	Placenta	Placenta
16	chr1:45421000-45450800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:45421400-45443400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:45422000-45441400	Weak transcription	Esophagus	oesophagus
19	chr1:45423600-45441400	Weak transcription	NHLF	lung
20	chr1:45424600-45441400	Weak transcription	Lung	lung
21	chr1:45424600-45443200	Weak transcription	Thymus	Thymus
22	chr1:45424800-45445600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:45425000-45445600	Weak transcription	Aorta	Aorta
24	chr1:45425600-45443400	Weak transcription	HSMMtube	muscle
25	chr1:45430600-45441600	Weak transcription	HepG2	liver
26	chr1:45430800-45450800	Weak transcription	Brain Substantia Nigra	brain
27	chr1:45432200-45443800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:45432400-45442200	Weak transcription	Brain Germinal Matrix	brain
29	chr1:45432600-45442000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:45433200-45451000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:45433400-45443000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:45434400-45450800	Weak transcription	Small Intestine	intestine
33	chr1:45435600-45444200	Strong transcription	Primary T cells from cord blood	blood
34	chr1:45435600-45447400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:45435600-45447600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:45436000-45447000	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:45436200-45446800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:45436400-45450800	Weak transcription	HMEC	breast
39	chr1:45436600-45450800	Weak transcription	Stomach Mucosa	stomach
40	chr1:45436800-45442000	Weak transcription	NH-A	brain
41	chr1:45436800-45445000	Weak transcription	Hela-S3	cervix
42	chr1:45437200-45444200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:45437200-45446800	Strong transcription	Fetal Thymus	thymus
44	chr1:45437400-45442000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:45437400-45444800	Weak transcription	HUVEC	blood vessel
46	chr1:45437400-45446600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:45437400-45447400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:45437600-45441600	Strong transcription	Fetal Stomach	stomach
49	chr1:45437600-45446800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:45437600-45447000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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