Variant report

Variant	rs17053503
Chromosome Location	chr9:72971212-72971213
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72970286..72973007-chr9:72974824..72976368,2	MCF-7	breast:
2	chr9:72962840..72966479-chr9:72967543..72971409,5	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10491653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1073540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10868808	0.82[JPT][hapmap]
rs11142363	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs11142367	0.82[JPT][hapmap]
rs11142368	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs11142370	0.82[JPT][hapmap]
rs11142373	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs1180101	0.82[JPT][hapmap]
rs1180102	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs1180104	0.92[CHB][hapmap]
rs1180105	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs1180107	0.82[JPT][hapmap]
rs1180112	0.82[JPT][hapmap]
rs1180117	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs1180118	0.82[JPT][hapmap]
rs1180122	0.82[JPT][hapmap]
rs1180124	0.86[JPT][hapmap]
rs1180126	0.82[JPT][hapmap]
rs1180133	0.82[JPT][hapmap]
rs11998951	0.92[CHB][hapmap]
rs12006212	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs12156606	0.81[JPT][hapmap]
rs12380844	0.82[JPT][hapmap]
rs12683986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12684301	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12684987	0.87[AMR][1000 genomes]
rs12685322	0.87[AMR][1000 genomes]
rs12685441	0.87[AMR][1000 genomes]
rs12685491	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12685534	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12686312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12686573	0.87[AMR][1000 genomes]
rs12686584	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12686850	0.87[AMR][1000 genomes]
rs17051690	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17051696	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17052443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17052748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17053650	0.86[ASN][1000 genomes]
rs17088889	0.87[AMR][1000 genomes]
rs17088905	0.87[AMR][1000 genomes]
rs1927116	0.87[AMR][1000 genomes]
rs1927117	0.87[AMR][1000 genomes]
rs1927119	0.87[AMR][1000 genomes]
rs1927142	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1927148	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1927150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2026137	0.82[JPT][hapmap]
rs2026138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2148853	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2148865	0.87[AMR][1000 genomes]
rs2182732	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2871293	0.82[JPT][hapmap]
rs2871295	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34061327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35188046	0.87[AMR][1000 genomes]
rs35508139	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3739773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3739774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4069793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4287005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4410968	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4439194	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4449855	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs4596711	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4602958	0.87[AMR][1000 genomes]
rs4606121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4610818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4621877	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4744994	0.82[JPT][hapmap]
rs56735283	0.87[AMR][1000 genomes]
rs56860643	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57048128	0.87[AMR][1000 genomes]
rs57398306	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57477024	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58219953	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58662316	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58948879	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58969772	0.81[AMR][1000 genomes]
rs58976318	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59010963	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59444215	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59546243	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59960592	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59976188	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60049462	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60391643	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60458589	0.87[AMR][1000 genomes]
rs61092050	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61265226	0.87[AMR][1000 genomes]
rs61266539	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7034322	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs7046167	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs716535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs753022	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs753023	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7858988	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs943536	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs943540	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs954808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv831615	chr9:72852705-73019692	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1049132	chr9:72895382-73005897	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72939600-72974000	Weak transcription	Colon Smooth Muscle	Colon
2	chr9:72944000-72974600	Weak transcription	Aorta	Aorta
3	chr9:72944000-72978800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:72944000-73002600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:72944200-72974000	Weak transcription	Spleen	Spleen
6	chr9:72944200-72974800	Weak transcription	Lung	lung
7	chr9:72948000-72983400	Weak transcription	HSMMtube	muscle
8	chr9:72948400-72980800	Weak transcription	NHEK	skin
9	chr9:72952200-72972800	Weak transcription	A549	lung
10	chr9:72962000-72972000	Weak transcription	Brain Anterior Caudate	brain
11	chr9:72962200-72974200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr9:72963800-72972400	Weak transcription	Thymus	Thymus
13	chr9:72963800-72977800	Weak transcription	Esophagus	oesophagus
14	chr9:72964200-72980800	Weak transcription	Pancreas	Pancrea
15	chr9:72964400-72974000	Weak transcription	Fetal Intestine Small	intestine
16	chr9:72964800-72975200	Weak transcription	Primary B cells from cord blood	blood
17	chr9:72965000-72973600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:72965400-72975000	Weak transcription	Brain Germinal Matrix	brain
19	chr9:72965600-72974600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr9:72965800-72974000	Weak transcription	Fetal Brain Female	brain
21	chr9:72965800-72974400	Weak transcription	Brain Substantia Nigra	brain
22	chr9:72965800-72974400	Weak transcription	GM12878-XiMat	blood
23	chr9:72965800-72974600	Weak transcription	Fetal Brain Male	brain
24	chr9:72965800-72976000	Weak transcription	Hela-S3	cervix
25	chr9:72965800-72976400	Weak transcription	Fetal Lung	lung
26	chr9:72965800-72979600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr9:72966000-72971800	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:72966000-72972400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:72966200-72972000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:72966200-72972200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr9:72966200-72972400	Weak transcription	Left Ventricle	heart
32	chr9:72966400-72971800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:72966400-72974600	Weak transcription	Fetal Intestine Large	intestine
34	chr9:72966400-72978400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:72966600-72974400	Weak transcription	HMEC	breast
36	chr9:72966600-72983000	Weak transcription	NHDF-Ad	bronchial
37	chr9:72966800-72972000	Weak transcription	Fetal Stomach	stomach
38	chr9:72966800-72974600	Weak transcription	Right Ventricle	heart
39	chr9:72966800-72978200	Weak transcription	NH-A	brain
40	chr9:72967000-72974200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr9:72967000-72980600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:72967200-72972400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr9:72967200-72972600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr9:72967200-72972800	Weak transcription	Primary T cells from cord blood	blood
45	chr9:72967200-72977800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:72967200-72979000	Weak transcription	Fetal Muscle Leg	muscle
47	chr9:72967200-72980200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:72967400-72972200	Weak transcription	Fetal Thymus	thymus
49	chr9:72967400-72972400	Weak transcription	Osteobl	bone
50	chr9:72967400-72973600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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