Variant report

Variant	rs8038411
Chromosome Location	chr15:73370619-73370620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:73088420..73089395-chr15:73370490..73371104,2	MCF-7	breast:
2	chr15:73366653..73368204-chr15:73368418..73370771,2	MCF-7	breast:
3	chr15:73356525..73360663-chr15:73369090..73372368,3	MCF-7	breast:
4	chr15:73343238..73345497-chr15:73369477..73372153,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067141	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1017809	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1029	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1038136	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11852881	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11853109	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11856383	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11856433	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11856466	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11857053	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12101540	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12101734	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13329282	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1382780	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1678245	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16957661	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1714529	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1714530	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1714532	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1812363	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1842164	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1895842	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1963253	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1963254	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1979410	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2169952	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254390	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2254818	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2623990	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2623994	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2623996	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2680347	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2680348	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2680350	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2680351	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28547177	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28572029	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28582318	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28645758	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28676873	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28808999	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28828370	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4238459	1.00[CEU][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4287530	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4325518	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4539561	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4635304	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4776626	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4777584	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs533460	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55969660	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57453823	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6495054	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7176908	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7180017	1.00[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73438015	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7403367	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7497831	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031718	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8034243	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8034826	0.95[AFR][1000 genomes]
rs8035499	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8035717	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs899480	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9920152	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9920459	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9920675	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.88[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	esv3352103	chr15:73191535-73454001	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv482421	chr15:73279141-73426897	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv904338	chr15:73313691-73483718	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv517966	chr15:73349633-73488753	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv525462	chr15:73349633-73563495	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73361000-73372400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:73365000-73374000	Enhancers	Brain Angular Gyrus	brain
3	chr15:73366000-73370800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:73367000-73371800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:73367200-73370800	Weak transcription	Fetal Lung	lung
6	chr15:73367800-73370800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:73368000-73370800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr15:73368000-73370800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:73368000-73370800	Weak transcription	Fetal Intestine Small	intestine
10	chr15:73368000-73371000	Weak transcription	Fetal Intestine Large	intestine
11	chr15:73368200-73370800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:73368200-73370800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr15:73368200-73370800	Weak transcription	NHEK	skin
14	chr15:73368200-73375600	Enhancers	Brain Substantia Nigra	brain
15	chr15:73368200-73381000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:73368400-73370800	Weak transcription	Hela-S3	cervix
17	chr15:73368400-73371000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:73368400-73373200	Enhancers	Brain Anterior Caudate	brain
19	chr15:73368600-73370800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:73368600-73371000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:73368600-73375200	Weak transcription	Aorta	Aorta
22	chr15:73368800-73371800	Enhancers	Rectal Smooth Muscle	rectum
23	chr15:73369200-73374600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr15:73369600-73374200	Enhancers	Brain Hippocampus Middle	brain
25	chr15:73369600-73374400	Enhancers	Brain Cingulate Gyrus	brain
26	chr15:73370000-73371600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr15:73370000-73371800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr15:73370000-73372200	Enhancers	Duodenum Mucosa	Duodenum
29	chr15:73370000-73373800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr15:73370200-73371000	Enhancers	Ovary	ovary
31	chr15:73370200-73371200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr15:73370200-73371200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:73370200-73371200	Enhancers	Pancreas	Pancrea
34	chr15:73370200-73371200	Enhancers	Psoas Muscle	Psoas
35	chr15:73370200-73371600	Enhancers	Small Intestine	intestine
36	chr15:73370200-73371800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:73370200-73371800	Enhancers	Colon Smooth Muscle	Colon
38	chr15:73370200-73372000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr15:73370200-73375600	Enhancers	Stomach Mucosa	stomach
40	chr15:73370400-73370800	Weak transcription	Gastric	stomach
41	chr15:73370400-73371000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr15:73370400-73371000	Weak transcription	Fetal Brain Male	brain
43	chr15:73370400-73371600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr15:73370400-73371600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr15:73370400-73371600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr15:73370600-73371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:73370600-73371000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr15:73370600-73371000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr15:73370600-73371200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr15:73370600-73371600	Enhancers	HUES64 Cell Line	embryonic stem cell

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