Variant report

Variant	rs17772285
Chromosome Location	chr2:46997308-46997309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46883840..46884354-chr2:46996727..46997565,2	MCF-7	breast:
2	chr2:46990483..46993440-chr2:46995579..46997950,2	MCF-7	breast:
3	chr2:46991531..46994585-chr2:46996184..46999045,3	K562	blood:
4	chr2:46992530..46995162-chr2:46996184..46999051,3	K562	blood:
5	chr2:46859579..46860115-chr2:46996827..46997682,2	MCF-7	breast:
6	chr2:46946506..46948828-chr2:46997236..46999160,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10495937	0.95[EUR][1000 genomes]
rs11903382	0.87[EUR][1000 genomes]
rs1446496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1446497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1446498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17767067	0.81[CEU][hapmap]
rs17767121	0.81[CEU][hapmap]
rs17767151	0.81[CEU][hapmap]
rs17767283	0.81[CEU][hapmap]
rs17767307	0.81[CEU][hapmap];1.00[AFR][1000 genomes]
rs17769580	0.80[EUR][1000 genomes]
rs17769689	0.80[EUR][1000 genomes]
rs17771005	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs17771017	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17771098	0.88[EUR][1000 genomes]
rs17771201	0.88[EUR][1000 genomes]
rs17771237	0.87[EUR][1000 genomes]
rs17771255	0.87[EUR][1000 genomes]
rs17771357	0.87[EUR][1000 genomes]
rs17771942	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17772991	1.00[AFR][1000 genomes]
rs17773016	0.86[AMR][1000 genomes]
rs17820969	0.82[EUR][1000 genomes]
rs17821218	0.82[EUR][1000 genomes]
rs17821989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17822782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17823065	0.80[CEU][hapmap];0.86[AMR][1000 genomes]
rs17823581	0.83[CEU][hapmap];0.86[AMR][1000 genomes]
rs2045290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3927078	0.80[EUR][1000 genomes]
rs41371146	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41379148	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55874432	0.91[EUR][1000 genomes]
rs55928499	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56006635	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56199036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56224128	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56800355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57124017	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57420323	0.86[AMR][1000 genomes]
rs58200475	0.86[AMR][1000 genomes]
rs58509367	0.86[AMR][1000 genomes]
rs58903656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6731970	0.80[CEU][hapmap];0.93[EUR][1000 genomes]
rs6735101	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs72800587	0.80[EUR][1000 genomes]
rs72800597	0.82[EUR][1000 genomes]
rs72800599	0.82[EUR][1000 genomes]
rs72800600	0.82[EUR][1000 genomes]
rs72800602	0.82[EUR][1000 genomes]
rs72802404	0.82[EUR][1000 genomes]
rs72802406	0.82[EUR][1000 genomes]
rs72802407	0.85[EUR][1000 genomes]
rs72802408	0.82[EUR][1000 genomes]
rs72802411	0.81[EUR][1000 genomes]
rs72802415	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72802420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802428	0.84[EUR][1000 genomes]
rs72802429	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72802430	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72802435	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72802441	0.93[EUR][1000 genomes]
rs72802444	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802445	0.82[EUR][1000 genomes]
rs72802448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72802462	0.86[AMR][1000 genomes]
rs72802463	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72802466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802468	0.86[AMR][1000 genomes]
rs72802469	0.86[AMR][1000 genomes]
rs72802470	0.86[AMR][1000 genomes]
rs72802486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72802498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72802499	0.86[AMR][1000 genomes]
rs72802501	0.86[AMR][1000 genomes]
rs72802502	0.86[AMR][1000 genomes]
rs72804404	0.86[AMR][1000 genomes]
rs72804430	0.86[AMR][1000 genomes]
rs7566275	1.00[CEU][hapmap];0.96[EUR][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	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
2	chr2:46984400-46998600	Weak transcription	Fetal Brain Male	brain
3	chr2:46985600-46998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:46987200-46997800	Weak transcription	Liver	Liver
6	chr2:46987400-46997400	Weak transcription	Fetal Stomach	stomach
7	chr2:46987400-46997600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:46987400-46997600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:46987400-47005600	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:46987400-47005600	Weak transcription	Left Ventricle	heart
11	chr2:46987600-46997400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:46987600-47006000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:46988200-46997400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:46992400-47005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:46993200-46997600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:46995000-46999000	Enhancers	Osteobl	bone
17	chr2:46995200-46999000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:46995800-46997800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:46996000-47005200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:46996600-46997400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:46997000-46997400	Enhancers	HepG2	liver
22	chr2:46997000-46997400	Flanking Active TSS	NHDF-Ad	bronchial
23	chr2:46997000-46997600	Flanking Active TSS	A549	lung
24	chr2:46997000-46998200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:46997000-46998200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:46997000-46998200	Enhancers	Fetal Lung	lung
27	chr2:46997000-46998400	Enhancers	NHLF	lung
28	chr2:46997000-46999000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:46997200-46997600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:46997200-46997800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr2:46997200-46997800	Enhancers	Ovary	ovary
32	chr2:46997200-46998000	Enhancers	HSMM	muscle
33	chr2:46997200-46998200	Enhancers	NH-A	brain

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