Variant report

Variant	rs11142372
Chromosome Location	chr9:72946411-72946412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72939453..72941323-chr9:72944240..72946981,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10114223	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735584	0.81[AMR][1000 genomes]
rs10780924	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[ASN][1000 genomes]
rs10868800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10868810	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142348	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs11142364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142365	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11142375	0.93[EUR][1000 genomes]
rs11142377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142379	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[ASN][1000 genomes]
rs11142380	1.00[ASN][1000 genomes]
rs11142381	1.00[ASN][1000 genomes]
rs11521805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11795149	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180080	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180082	1.00[CHB][hapmap]
rs1180084	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180097	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180099	1.00[CHB][hapmap]
rs1180100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180110	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[ASN][1000 genomes]
rs1180113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180134	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1183311	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11999862	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17052678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888155	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927097	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927108	0.81[AMR][1000 genomes]
rs1927109	0.81[AMR][1000 genomes]
rs1927112	0.87[AMR][1000 genomes]
rs1927114	0.87[AMR][1000 genomes]
rs1927123	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1927138	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927140	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927141	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927145	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927148	0.85[YRI][hapmap]
rs2148854	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148855	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182733	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182735	1.00[CHB][hapmap]
rs2209781	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2225128	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309601	0.81[AMR][1000 genomes]
rs2309637	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309641	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309646	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871297	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744587	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744985	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66524845	0.93[EUR][1000 genomes]
rs66756859	0.88[EUR][1000 genomes]
rs7042675	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7043171	1.00[CHB][hapmap]
rs7047789	1.00[CHB][hapmap]
rs72712293	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712300	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341691	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7848955	0.87[AMR][1000 genomes]
rs9410662	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943532	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943533	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72875000-72949800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:72876400-72955200	Weak transcription	Stomach Mucosa	stomach
3	chr9:72891400-72948200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr9:72912600-72947800	Strong transcription	Placenta	Placenta
5	chr9:72913800-72957800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:72926400-72965000	Weak transcription	Fetal Brain Male	brain
7	chr9:72926400-72967000	Weak transcription	Fetal Heart	heart
8	chr9:72928200-72948000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:72936000-72970800	Weak transcription	Psoas Muscle	Psoas
10	chr9:72939600-72951200	Weak transcription	K562	blood
11	chr9:72939600-72974000	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:72940000-72948200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:72940400-72954400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:72941200-72965000	Weak transcription	Hela-S3	cervix
15	chr9:72941400-72965200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr9:72942200-72953800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:72942400-72948400	Strong transcription	Fetal Intestine Large	intestine
18	chr9:72942600-72948000	Strong transcription	Fetal Kidney	kidney
19	chr9:72942800-72961400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr9:72943000-72966400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr9:72943000-72966600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr9:72943200-72968600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr9:72943400-72963400	Weak transcription	HepG2	liver
24	chr9:72943400-72967200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr9:72943600-72953800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr9:72943600-72955800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr9:72943600-72970800	Weak transcription	Gastric	stomach
28	chr9:72943800-72947600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:72943800-72950600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:72944000-72946800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr9:72944000-72951200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr9:72944000-72952200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr9:72944000-72952400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:72944000-72957600	Weak transcription	Brain Anterior Caudate	brain
35	chr9:72944000-72962000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:72944000-72963200	Weak transcription	Pancreas	Pancrea
37	chr9:72944000-72963400	Weak transcription	Small Intestine	intestine
38	chr9:72944000-72963600	Weak transcription	Fetal Brain Female	brain
39	chr9:72944000-72965200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr9:72944000-72965200	Weak transcription	Colonic Mucosa	Colon
41	chr9:72944000-72970800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:72944000-72974600	Weak transcription	Aorta	Aorta
43	chr9:72944000-72978800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr9:72944000-73002600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:72944200-72946600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr9:72944200-72946800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:72944200-72948200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr9:72944200-72952000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:72944200-72952600	Weak transcription	Fetal Intestine Small	intestine
50	chr9:72944200-72953800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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