Variant report

Variant	rs7969282
Chromosome Location	chr12:40157938-40157939
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40157295..40160338-chr12:40499150..40502228,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151229	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10047563	0.87[AMR][1000 genomes]
rs10219652	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10444570	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10735885	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10747877	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10747878	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10783993	0.89[AMR][1000 genomes]
rs10783994	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10783998	0.87[AMR][1000 genomes]
rs10784001	0.89[AMR][1000 genomes]
rs10784016	0.87[AMR][1000 genomes]
rs10784034	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10784051	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10784059	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877335	0.87[AMR][1000 genomes]
rs10877337	0.91[AMR][1000 genomes]
rs10877369	0.84[AMR][1000 genomes]
rs10877410	0.87[AMR][1000 genomes]
rs11173257	0.82[AMR][1000 genomes]
rs11173259	0.82[EUR][1000 genomes]
rs11173260	0.87[AMR][1000 genomes]
rs11173262	0.89[AMR][1000 genomes]
rs11173376	0.87[AMR][1000 genomes]
rs11173394	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11173401	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11173411	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11173423	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11173424	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11173428	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11173433	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11173434	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11173440	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11173446	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11173459	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11173494	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11173507	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11173541	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11173550	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11173551	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11173553	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11532458	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12229203	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12229418	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12230687	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12823801	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12825223	0.89[AMR][1000 genomes]
rs4238072	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4238073	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4255599	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4255600	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4312128	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4322460	0.87[AMR][1000 genomes]
rs4322461	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4381428	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4388963	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4397916	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4405390	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4405391	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4411336	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4417381	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4417382	0.89[AMR][1000 genomes]
rs4556618	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4594067	0.89[AMR][1000 genomes]
rs4767949	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768168	0.89[AMR][1000 genomes]
rs4768169	0.87[AMR][1000 genomes]
rs4768170	0.87[AMR][1000 genomes]
rs57244766	0.87[AMR][1000 genomes]
rs58418587	0.87[AMR][1000 genomes]
rs58755301	0.85[AMR][1000 genomes]
rs61931185	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61931208	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61931211	0.82[AMR][1000 genomes]
rs61933102	0.87[AMR][1000 genomes]
rs61933154	0.87[AMR][1000 genomes]
rs61933157	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61933158	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6421195	0.87[AMR][1000 genomes]
rs6421196	0.87[AMR][1000 genomes]
rs6421197	0.87[AMR][1000 genomes]
rs6421198	0.89[AMR][1000 genomes]
rs6581263	0.87[AMR][1000 genomes]
rs6581265	0.89[AMR][1000 genomes]
rs6581266	0.89[AMR][1000 genomes]
rs6581270	0.87[AMR][1000 genomes]
rs6581271	0.87[AMR][1000 genomes]
rs6581272	0.89[AMR][1000 genomes]
rs6581294	0.87[AMR][1000 genomes]
rs7136929	0.87[AMR][1000 genomes]
rs7296585	0.87[AMR][1000 genomes]
rs7298453	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7301886	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7302849	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7308955	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7485345	0.87[AMR][1000 genomes]
rs7486196	0.89[AMR][1000 genomes]
rs7486621	0.87[AMR][1000 genomes]
rs7952735	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7956577	0.87[AMR][1000 genomes]
rs7959905	0.87[AMR][1000 genomes]
rs7961070	0.89[AMR][1000 genomes]
rs7964129	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
3	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv899024	chr12:40046408-40188870	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1053603	chr12:40082673-40197609	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv427907	chr12:40122713-40199621	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv428280	chr12:40122713-40199621	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40144800-40166400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:40145000-40175000	Weak transcription	Right Ventricle	heart
3	chr12:40146000-40166800	Weak transcription	Ovary	ovary
4	chr12:40146200-40159000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:40150200-40160400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:40151400-40160600	Weak transcription	NHDF-Ad	bronchial
7	chr12:40151800-40160800	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:40152800-40159600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:40153200-40171400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:40154600-40158600	Weak transcription	Psoas Muscle	Psoas
11	chr12:40155600-40158200	Weak transcription	Colonic Mucosa	Colon
12	chr12:40155800-40161200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:40156200-40158200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:40156400-40158200	Strong transcription	Stomach Smooth Muscle	stomach
15	chr12:40156400-40172800	Weak transcription	Fetal Intestine Small	intestine
16	chr12:40156600-40160400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:40156800-40158000	Strong transcription	Liver	Liver
18	chr12:40156800-40158000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr12:40156800-40158200	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr12:40156800-40159000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:40157000-40159200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:40157000-40159200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:40157200-40158000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:40157200-40158000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:40157200-40158000	Strong transcription	Adipose Nuclei	Adipose
26	chr12:40157200-40158000	Strong transcription	Aorta	Aorta
27	chr12:40157200-40158000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:40157200-40158200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:40157200-40158200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:40157200-40158200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr12:40157200-40158200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:40157200-40158200	Strong transcription	Fetal Intestine Large	intestine
33	chr12:40157200-40158200	Strong transcription	Left Ventricle	heart
34	chr12:40157200-40158600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:40157400-40158000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr12:40157400-40158000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:40157600-40158000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr12:40157600-40158000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr12:40157600-40158000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr12:40157600-40158000	Enhancers	Brain Germinal Matrix	brain
41	chr12:40157600-40158200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:40157600-40158200	Strong transcription	Pancreas	Pancrea
43	chr12:40157800-40158000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:40157800-40158000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:40157800-40158000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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