Variant report

Variant	rs7303119
Chromosome Location	chr12:46254995-46254996
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	chr12:46120556..46123055-chr12:46253853..46256822,2	MCF-7	breast:
2	chr12:46244727..46246265-chr12:46253414..46255064,2	K562	blood:

Variant related genes	Relation type
ENSG00000273015	Chromatin interaction
ENSG00000189079	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10161001	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10161062	0.80[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10161510	1.00[ASW][hapmap];1.00[CHD][hapmap];0.93[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10161536	1.00[CHD][hapmap];0.86[YRI][hapmap]
rs10880858	0.86[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183171	1.00[MEX][hapmap]
rs11183197	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11183199	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183202	0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183248	0.80[YRI][hapmap]
rs11574971	1.00[CHD][hapmap];0.86[YRI][hapmap]
rs12296933	0.86[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12297214	0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12301665	1.00[EUR][1000 genomes]
rs12302862	0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs12305110	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12309988	1.00[CHD][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12316361	0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316726	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321106	1.00[EUR][1000 genomes]
rs28583490	1.00[EUR][1000 genomes]
rs55916269	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56338250	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58253063	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58782185	1.00[EUR][1000 genomes]
rs59340060	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6582575	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7132585	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7133123	0.89[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296694	1.00[CHD][hapmap];1.00[MEX][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308856	0.85[ASW][hapmap];1.00[CHD][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308893	1.00[CHD][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7309921	0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7310702	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs7315365	1.00[EUR][1000 genomes]
rs74081382	1.00[EUR][1000 genomes]
rs74081384	1.00[EUR][1000 genomes]
rs74081401	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74084208	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953515	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964495	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7965539	0.86[YRI][hapmap]
rs7970212	0.82[AFR][1000 genomes]
rs7971936	1.00[CHD][hapmap]
rs7972650	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7973967	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975170	0.85[ASW][hapmap];1.00[CHD][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975408	0.86[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832396	chr12:46155424-46310583	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv558782	chr12:46254995-46286683	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46229800-46267800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:46242200-46272000	Weak transcription	Stomach Mucosa	stomach
3	chr12:46245400-46272800	Weak transcription	NHDF-Ad	bronchial
4	chr12:46245400-46318600	Weak transcription	Small Intestine	intestine
5	chr12:46245600-46256200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:46245600-46267600	Weak transcription	Aorta	Aorta
7	chr12:46245800-46255400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:46245800-46271000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:46245800-46271600	Weak transcription	HUVEC	blood vessel
10	chr12:46245800-46272000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:46246000-46256400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:46246000-46272600	Weak transcription	Fetal Heart	heart
13	chr12:46246000-46285400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:46246200-46256200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:46246200-46256200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:46246200-46256600	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:46246400-46255000	Weak transcription	K562	blood
18	chr12:46246400-46267600	Weak transcription	Brain Anterior Caudate	brain
19	chr12:46246400-46267600	Weak transcription	Fetal Brain Male	brain
20	chr12:46246400-46268600	Weak transcription	Colonic Mucosa	Colon
21	chr12:46246400-46268600	Weak transcription	Esophagus	oesophagus
22	chr12:46246600-46256200	Weak transcription	Brain Germinal Matrix	brain
23	chr12:46246600-46265800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:46246600-46266000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:46246600-46266400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:46246600-46266600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:46246600-46268600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:46246600-46268600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:46246600-46268600	Weak transcription	Right Ventricle	heart
30	chr12:46246600-46274800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:46246600-46285400	Weak transcription	NH-A	brain
32	chr12:46246600-46285600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:46246600-46286000	Weak transcription	HMEC	breast
34	chr12:46246800-46258600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:46246800-46267600	Weak transcription	Brain Angular Gyrus	brain
36	chr12:46246800-46269000	Weak transcription	Osteobl	bone
37	chr12:46246800-46288000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:46247000-46255000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:46247000-46261000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:46247200-46257000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:46247400-46266400	Weak transcription	Hela-S3	cervix
42	chr12:46247600-46255400	Weak transcription	Fetal Lung	lung
43	chr12:46247600-46258400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:46247600-46262600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:46247600-46267800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:46247800-46255200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:46247800-46256200	Weak transcription	HSMMtube	muscle
48	chr12:46247800-46257600	Weak transcription	Adipose Nuclei	Adipose
49	chr12:46247800-46257600	Weak transcription	Ovary	ovary
50	chr12:46247800-46258600	Weak transcription	Brain Hippocampus Middle	brain

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