Variant report

Variant	rs11166543
Chromosome Location	chr1:92781579-92781580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92764606..92767220-chr1:92781297..92784112,2	K562	blood:
2	chr1:92775543..92777429-chr1:92779885..92782284,2	K562	blood:
3	chr1:92781038..92783482-chr1:92784277..92786700,2	K562	blood:

Variant related genes	Relation type
ENSG00000122484	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10399670	1.00[EUR][1000 genomes]
rs10399724	1.00[EUR][1000 genomes]
rs10399865	1.00[EUR][1000 genomes]
rs10399960	1.00[EUR][1000 genomes]
rs11164364	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11164660	1.00[EUR][1000 genomes]
rs11166107	1.00[EUR][1000 genomes]
rs11166118	1.00[EUR][1000 genomes]
rs11166189	1.00[EUR][1000 genomes]
rs11166200	1.00[EUR][1000 genomes]
rs11166203	1.00[EUR][1000 genomes]
rs11166390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11485369	0.97[AFR][1000 genomes]
rs12057715	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12057860	1.00[EUR][1000 genomes]
rs12058147	1.00[EUR][1000 genomes]
rs12059439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059473	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12059645	1.00[EUR][1000 genomes]
rs12061480	1.00[EUR][1000 genomes]
rs12061953	1.00[EUR][1000 genomes]
rs12062143	1.00[EUR][1000 genomes]
rs12063053	1.00[EUR][1000 genomes]
rs12063404	1.00[EUR][1000 genomes]
rs12064015	1.00[EUR][1000 genomes]
rs12064732	1.00[EUR][1000 genomes]
rs12065163	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12065694	1.00[EUR][1000 genomes]
rs12065702	1.00[EUR][1000 genomes]
rs12066980	1.00[EUR][1000 genomes]
rs12067302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12068883	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12069582	1.00[EUR][1000 genomes]
rs12069690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12069984	1.00[EUR][1000 genomes]
rs12070123	1.00[EUR][1000 genomes]
rs12070249	1.00[EUR][1000 genomes]
rs12071033	1.00[EUR][1000 genomes]
rs12071088	1.00[EUR][1000 genomes]
rs12072804	1.00[EUR][1000 genomes]
rs12073274	1.00[EUR][1000 genomes]
rs12074384	1.00[EUR][1000 genomes]
rs12075870	1.00[EUR][1000 genomes]
rs12076399	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076954	1.00[EUR][1000 genomes]
rs12078738	1.00[EUR][1000 genomes]
rs12080119	1.00[EUR][1000 genomes]
rs12080525	1.00[EUR][1000 genomes]
rs12081539	1.00[EUR][1000 genomes]
rs12083424	1.00[EUR][1000 genomes]
rs12085789	1.00[EUR][1000 genomes]
rs12086354	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086426	1.00[EUR][1000 genomes]
rs12087282	1.00[EUR][1000 genomes]
rs12088142	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088549	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088562	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12089666	1.00[EUR][1000 genomes]
rs12090217	1.00[EUR][1000 genomes]
rs12091427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12092747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093590	1.00[EUR][1000 genomes]
rs12093905	1.00[EUR][1000 genomes]
rs12094086	1.00[EUR][1000 genomes]
rs12095429	1.00[EUR][1000 genomes]
rs12097184	1.00[EUR][1000 genomes]
rs1483020	1.00[EUR][1000 genomes]
rs1483021	1.00[EUR][1000 genomes]
rs1487538	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17100275	1.00[EUR][1000 genomes]
rs17131601	1.00[EUR][1000 genomes]
rs17131604	1.00[EUR][1000 genomes]
rs17131606	1.00[EUR][1000 genomes]
rs17131614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131625	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131626	1.00[EUR][1000 genomes]
rs17131634	1.00[EUR][1000 genomes]
rs2046297	1.00[EUR][1000 genomes]
rs28696358	1.00[EUR][1000 genomes]
rs35166258	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41344152	1.00[YRI][hapmap]
rs57820459	1.00[EUR][1000 genomes]
rs58471288	1.00[EUR][1000 genomes]
rs59366523	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59385116	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59800659	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60332284	1.00[EUR][1000 genomes]
rs6657876	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6679077	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956818	1.00[EUR][1000 genomes]
rs72956832	1.00[EUR][1000 genomes]
rs72956833	1.00[EUR][1000 genomes]
rs72956863	1.00[EUR][1000 genomes]
rs72956874	1.00[EUR][1000 genomes]
rs72956893	1.00[EUR][1000 genomes]
rs72958705	1.00[AMR][1000 genomes]
rs72958718	1.00[AMR][1000 genomes]
rs72958765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958768	1.00[EUR][1000 genomes]
rs72958786	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960809	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960813	1.00[EUR][1000 genomes]
rs72960817	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960824	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960880	1.00[EUR][1000 genomes]
rs72960900	1.00[EUR][1000 genomes]
rs72962603	1.00[EUR][1000 genomes]
rs72962608	1.00[EUR][1000 genomes]
rs72962610	1.00[EUR][1000 genomes]
rs72962621	1.00[EUR][1000 genomes]
rs72962625	1.00[EUR][1000 genomes]
rs72962628	1.00[EUR][1000 genomes]
rs7512045	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7552286	1.00[EUR][1000 genomes]
rs9660398	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv871352	chr1:92761127-92807238	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv870854	chr1:92765102-92807238	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv871387	chr1:92765102-92813741	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92765200-92791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:92765200-92792000	Weak transcription	Aorta	Aorta
3	chr1:92765200-92792000	Weak transcription	Esophagus	oesophagus
4	chr1:92765600-92789600	Weak transcription	Psoas Muscle	Psoas
5	chr1:92765600-92791000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:92765600-92791600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:92765600-92791800	Weak transcription	Lung	lung
8	chr1:92765600-92791800	Weak transcription	Pancreas	Pancrea
9	chr1:92765600-92791800	Weak transcription	Right Ventricle	heart
10	chr1:92765600-92792000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:92765600-92792000	Weak transcription	Spleen	Spleen
12	chr1:92765800-92786200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:92765800-92789000	Weak transcription	Ovary	ovary
14	chr1:92765800-92789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:92765800-92791600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:92765800-92791800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:92765800-92791800	Weak transcription	Gastric	stomach
18	chr1:92765800-92850000	Weak transcription	Small Intestine	intestine
19	chr1:92766000-92792000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:92766200-92789000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:92766400-92791600	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:92767200-92783600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:92767400-92783200	Weak transcription	Fetal Heart	heart
24	chr1:92770600-92789000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:92770800-92783000	Weak transcription	HUVEC	blood vessel
26	chr1:92770800-92788800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:92771000-92791400	Weak transcription	NHEK	skin
28	chr1:92771600-92782600	Weak transcription	K562	blood
29	chr1:92771800-92781800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:92771800-92789000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:92771800-92789000	Weak transcription	A549	lung
32	chr1:92771800-92794800	Weak transcription	Brain Angular Gyrus	brain
33	chr1:92771800-92823800	Weak transcription	Colonic Mucosa	Colon
34	chr1:92772000-92789000	Weak transcription	HepG2	liver
35	chr1:92772000-92789400	Weak transcription	Fetal Brain Male	brain
36	chr1:92773000-92800800	Weak transcription	NHDF-Ad	bronchial
37	chr1:92773600-92786200	Weak transcription	Brain Germinal Matrix	brain
38	chr1:92773800-92785800	Weak transcription	Liver	Liver
39	chr1:92773800-92791800	Weak transcription	NHLF	lung
40	chr1:92774000-92786200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:92774000-92791800	Weak transcription	Brain Anterior Caudate	brain
42	chr1:92774200-92786000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:92774200-92786200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:92774200-92788800	Weak transcription	Left Ventricle	heart
45	chr1:92774200-92789000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:92774200-92789000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:92774200-92789000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:92774200-92789200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:92774200-92791800	Weak transcription	Brain Substantia Nigra	brain
50	chr1:92774200-92791800	Weak transcription	Thymus	Thymus

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