Variant report

Variant	rs61931185
Chromosome Location	chr12:40159098-40159099
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:40158505..40159798-chr12:40501059..40502327,6	MCF-7	breast:
2	chr12:40158540..40159495-chr12:40351942..40352752,5	MCF-7	breast:
3	chr12:40158968..40161311-chr12:40166240..40167816,2	MCF-7	breast:
4	chr12:40158520..40159448-chr12:40546284..40547792,5	MCF-7	breast:
5	chr12:40158494..40159394-chr12:40706485..40707345,2	MCF-7	breast:
6	chr12:40158493..40159396-chr12:40384037..40384925,5	MCF-7	breast:
7	chr12:40158566..40159336-chr12:40404675..40405547,2	MCF-7	breast:
8	chr12:40157295..40160338-chr12:40499150..40502228,3	MCF-7	breast:
9	chr12:40158893..40159412-chr12:40383653..40384584,2	K562	blood:
10	chr12:40158518..40159407-chr12:40501012..40501936,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151229	Chromatin interaction
ENSG00000188906	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10047563	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10219652	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10444570	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10735885	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10747825	0.86[EUR][1000 genomes]
rs10747877	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747878	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783993	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10783994	0.81[AMR][1000 genomes]
rs10783998	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10784001	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10784016	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10784034	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10784051	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10784059	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877335	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10877337	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10877369	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10877410	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11172998	0.86[EUR][1000 genomes]
rs11173257	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11173260	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11173262	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11173376	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11173394	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173401	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11173411	0.96[ASN][1000 genomes]
rs11173423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173424	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11173428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11173434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173494	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11173550	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11173551	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11173553	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11532458	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12229203	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12229418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12299938	0.85[ASN][1000 genomes]
rs12823801	0.83[AMR][1000 genomes]
rs12825223	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4238072	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4238073	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4255599	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4255600	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4312128	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4322460	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4322461	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4381428	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4388963	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4391875	0.85[ASN][1000 genomes]
rs4397916	0.91[ASN][1000 genomes]
rs4405390	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4405391	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4417381	0.83[AMR][1000 genomes]
rs4417382	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4556618	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4594067	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4767949	0.83[AMR][1000 genomes]
rs4768168	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4768169	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4768170	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57244766	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58418587	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58755301	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61477638	0.80[ASN][1000 genomes]
rs61931208	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61931211	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61933102	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61933154	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61933157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61933158	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6421195	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6421196	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6421197	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6421198	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6581263	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6581265	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6581266	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6581270	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6581271	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6581272	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6581294	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7136929	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7296585	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7298453	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7301886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7302849	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7308955	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7485345	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7486196	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7486621	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7952735	0.83[AMR][1000 genomes]
rs7956577	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7959905	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7961070	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7961346	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7964129	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7969282	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7973312	0.85[EUR][1000 genomes]
rs7980636	0.86[EUR][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:31 , 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	chr12:40150200-40160400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:40151400-40160600	Weak transcription	NHDF-Ad	bronchial
6	chr12:40151800-40160800	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:40152800-40159600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:40153200-40171400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:40155800-40161200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:40156400-40172800	Weak transcription	Fetal Intestine Small	intestine
11	chr12:40156600-40160400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:40157000-40159200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:40157000-40159200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:40158000-40159600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:40158000-40159800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:40158000-40160000	Weak transcription	Liver	Liver
17	chr12:40158000-40160400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:40158000-40160600	Weak transcription	Adipose Nuclei	Adipose
19	chr12:40158000-40161000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:40158000-40163600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:40158000-40173600	Weak transcription	Aorta	Aorta
22	chr12:40158200-40160000	Weak transcription	Fetal Intestine Large	intestine
23	chr12:40158200-40160800	Weak transcription	Pancreas	Pancrea
24	chr12:40158200-40161400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:40158200-40166400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:40158200-40166400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:40158200-40174400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:40158200-40179000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:40158200-40199000	Weak transcription	Left Ventricle	heart
30	chr12:40159000-40159200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:40159000-40160600	Enhancers	Hela-S3	cervix

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