Variant report

Variant	rs17721694
Chromosome Location	chr10:52167293-52167294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52164630..52167501-chr10:52173843..52176462,2	MCF-7	breast:
2	chr10:52160919..52162899-chr10:52165247..52167938,3	K562	blood:
3	chr10:52165612..52167461-chr10:52171890..52173400,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10490963	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490964	0.86[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11005626	0.86[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11005959	0.86[CEU][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12257419	0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12262259	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1369860	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]
rs1436206	0.83[JPT][hapmap]
rs17438825	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17440448	0.93[CEU][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17518471	0.86[CEU][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17519121	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17519380	0.86[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17721658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17721713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17778152	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916569	0.86[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1916571	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2060560	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2064759	0.86[CEU][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2117961	0.91[ASN][1000 genomes]
rs2117962	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255387	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2255720	0.99[ASN][1000 genomes]
rs2255849	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2255853	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2255859	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2574955	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2574956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2574975	0.89[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2574981	0.99[ASN][1000 genomes]
rs2688875	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2688877	0.93[ASN][1000 genomes]
rs2688879	1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs2842102	0.99[ASN][1000 genomes]
rs2842105	0.99[ASN][1000 genomes]
rs2842106	0.99[ASN][1000 genomes]
rs2842107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2842109	0.91[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs34672995	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34928652	0.92[ASN][1000 genomes]
rs3802537	0.86[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4935152	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4935673	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4935703	0.86[CEU][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4935713	0.87[ASN][1000 genomes]
rs4935729	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55773344	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55861418	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56078228	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56080689	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56133398	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56225400	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56268559	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56277433	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61559519	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61741330	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61856761	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856763	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856778	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856782	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856787	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61856788	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61856793	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61856794	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61856795	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61856828	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61856832	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61858062	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858064	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61858065	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61858068	0.89[ASN][1000 genomes]
rs61858069	0.92[ASN][1000 genomes]
rs61858206	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858207	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7067626	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7068430	0.86[CEU][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs7069115	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7082805	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7092753	0.92[ASN][1000 genomes]
rs72801752	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72801754	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801768	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72801775	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72801776	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72801781	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7392702	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7475420	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7921632	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884880	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1037118	chr10:51886486-52167442	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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
5	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv521273	chr10:52051645-52197847	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv948006	chr10:52127164-52177684	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52142600-52170200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:52147000-52176600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:52152400-52167600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:52156200-52170200	Weak transcription	Pancreas	Pancrea
5	chr10:52157000-52170800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:52157200-52170000	Weak transcription	Gastric	stomach
7	chr10:52157200-52177600	Weak transcription	Spleen	Spleen
8	chr10:52157400-52170000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:52157800-52167400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr10:52157800-52168800	Weak transcription	NHDF-Ad	bronchial
11	chr10:52157800-52169200	Weak transcription	HSMM	muscle
12	chr10:52157800-52172000	Weak transcription	Fetal Lung	lung
13	chr10:52157800-52173200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr10:52157800-52175400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr10:52157800-52176800	Weak transcription	Lung	lung
16	chr10:52158800-52169400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr10:52158800-52172200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr10:52160800-52176800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr10:52163200-52170200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:52163400-52170000	Weak transcription	NHLF	lung
21	chr10:52163600-52176800	Weak transcription	Thymus	Thymus
22	chr10:52164400-52170000	Weak transcription	Brain Substantia Nigra	brain
23	chr10:52164400-52170000	Enhancers	Hela-S3	cervix
24	chr10:52164400-52170200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr10:52164400-52172400	Weak transcription	Ovary	ovary
26	chr10:52164400-52173800	Weak transcription	Psoas Muscle	Psoas
27	chr10:52164400-52174000	Weak transcription	Brain Angular Gyrus	brain
28	chr10:52164400-52177600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr10:52164600-52169000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:52164600-52171000	Weak transcription	Brain Hippocampus Middle	brain
31	chr10:52164600-52176600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr10:52164800-52167600	Enhancers	A549	lung
33	chr10:52165200-52171600	Weak transcription	Brain Anterior Caudate	brain
34	chr10:52165400-52167600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:52165400-52168000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:52165400-52168000	Enhancers	HMEC	breast
37	chr10:52165400-52168200	Enhancers	NHEK	skin
38	chr10:52165400-52168400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr10:52165400-52171800	Weak transcription	Liver	Liver
40	chr10:52165800-52168000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr10:52166000-52167400	Enhancers	Placenta	Placenta
42	chr10:52166000-52168200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr10:52166200-52167400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr10:52166200-52169800	Weak transcription	Esophagus	oesophagus
45	chr10:52166200-52170000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:52166400-52170000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:52166400-52170000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr10:52166400-52170200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:52166400-52170200	Genic enhancers	K562	blood
50	chr10:52166600-52168000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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