Variant report

Variant	rs1166586
Chromosome Location	chr1:78257104-78257105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78250144..78252527-chr1:78255455..78257847,2	K562	blood:
2	chr1:78246589..78249280-chr1:78255545..78258628,3	K562	blood:
3	chr1:78247053..78249280-chr1:78255420..78258628,4	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1038983	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs10873951	0.84[CEU][hapmap]
rs10873954	0.94[ASN][1000 genomes]
rs10873955	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11162370	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs11162378	0.90[JPT][hapmap]
rs11162380	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs11162383	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11162384	0.98[ASN][1000 genomes]
rs11162386	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11162387	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11578805	0.88[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs1166584	0.81[EUR][1000 genomes]
rs1166585	0.80[EUR][1000 genomes]
rs1166588	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1166589	0.98[ASN][1000 genomes]
rs12090729	0.98[ASN][1000 genomes]
rs12128041	0.88[CEU][hapmap]
rs12132838	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs12142441	0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs12142671	0.82[CEU][hapmap]
rs1389789	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1389790	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1539739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs166770	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs1977900	0.81[EUR][1000 genomes]
rs2031342	0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs203229	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs2088058	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2147318	0.82[CEU][hapmap]
rs2274123	0.88[CEU][hapmap]
rs2296227	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs278833	0.81[EUR][1000 genomes]
rs278837	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs278842	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs278843	0.81[EUR][1000 genomes]
rs278848	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs278850	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs278854	0.82[CEU][hapmap]
rs278855	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs278856	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs278858	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs278859	0.89[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs278862	0.83[CEU][hapmap]
rs278863	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs278864	0.83[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs370335	0.88[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs371076	0.82[CEU][hapmap]
rs3767038	0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs4488068	0.87[ASN][1000 genomes]
rs4949817	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs4949818	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs4949822	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56688304	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs574973	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6603956	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6603958	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs6603960	0.86[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs6657290	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6661656	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6672200	0.89[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6687501	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6687596	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6693100	0.82[AMR][1000 genomes]
rs6699205	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs6699311	0.90[JPT][hapmap]
rs717333	0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs7513619	0.88[CEU][hapmap]
rs7519946	0.85[ASN][1000 genomes]
rs7535781	0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs7536206	0.98[ASN][1000 genomes]
rs7543037	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7543125	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7546365	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs7556227	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8179272	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9662527	0.88[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh 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	108 gene(s)	inside rSNPs	diseases
5	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
8	nsv1004327	chr1:78212804-78352385	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78246000-78265800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:78246000-78265800	Weak transcription	Pancreas	Pancrea
3	chr1:78246000-78284200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:78246000-78285600	Weak transcription	Colonic Mucosa	Colon
5	chr1:78246200-78272000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:78246200-78272800	Weak transcription	Psoas Muscle	Psoas
7	chr1:78246200-78279400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:78246200-78279600	Weak transcription	Aorta	Aorta
9	chr1:78246400-78272400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:78246400-78273200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:78246400-78274000	Weak transcription	Fetal Kidney	kidney
12	chr1:78246400-78287400	Weak transcription	Fetal Heart	heart
13	chr1:78246600-78274200	Weak transcription	HMEC	breast
14	chr1:78247400-78278400	Weak transcription	Hela-S3	cervix
15	chr1:78247600-78262200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:78247600-78272400	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:78247800-78257600	Weak transcription	NHDF-Ad	bronchial
18	chr1:78248000-78260000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:78248600-78288200	Weak transcription	Small Intestine	intestine
20	chr1:78249000-78257600	Weak transcription	HepG2	liver
21	chr1:78249000-78259200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:78249200-78271400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:78249400-78257600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:78249600-78257200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:78249600-78257200	Strong transcription	Adipose Nuclei	Adipose
26	chr1:78249600-78258200	Strong transcription	Fetal Thymus	thymus
27	chr1:78249800-78265200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:78250400-78282400	Weak transcription	NHEK	skin
29	chr1:78250600-78262200	Weak transcription	HUVEC	blood vessel
30	chr1:78250600-78264200	Weak transcription	K562	blood
31	chr1:78250600-78279000	Weak transcription	NHLF	lung
32	chr1:78250800-78262200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:78250800-78268000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:78251000-78266200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:78251400-78261000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:78252000-78262200	Weak transcription	Gastric	stomach
37	chr1:78252000-78262800	Strong transcription	Fetal Stomach	stomach
38	chr1:78252000-78272600	Weak transcription	Spleen	Spleen
39	chr1:78252000-78272800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:78252200-78282600	Weak transcription	Right Ventricle	heart
41	chr1:78252200-78315800	Weak transcription	Esophagus	oesophagus
42	chr1:78252400-78262200	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:78252800-78262200	Weak transcription	Brain Substantia Nigra	brain
44	chr1:78252800-78272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:78253000-78259800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:78253000-78262200	Weak transcription	Brain Angular Gyrus	brain
47	chr1:78253000-78266800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:78253000-78267200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:78253000-78267800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:78253000-78272800	Weak transcription	Thymus	Thymus

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