Variant report

Variant	rs73395746
Chromosome Location	chr12:105507695-105507696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105507638..105509835-chr12:105526539..105528222,2	K562	blood:
2	chr12:105506299..105509664-chr12:105519012..105521246,3	MCF-7	breast:
3	chr12:105505719..105508671-chr12:105627315..105629820,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235162	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1196869	0.81[ASN][1000 genomes]
rs1196873	0.81[ASN][1000 genomes]
rs1882148	1.00[EUR][1000 genomes]
rs2257156	0.81[ASN][1000 genomes]
rs2464175	0.81[ASN][1000 genomes]
rs3763991	1.00[EUR][1000 genomes]
rs57393988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57448746	1.00[EUR][1000 genomes]
rs57456392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57618699	1.00[EUR][1000 genomes]
rs58301361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58969183	1.00[EUR][1000 genomes]
rs59143432	1.00[EUR][1000 genomes]
rs59811168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59840770	1.00[EUR][1000 genomes]
rs59935781	1.00[EUR][1000 genomes]
rs59955900	1.00[EUR][1000 genomes]
rs60167837	1.00[EUR][1000 genomes]
rs60230439	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60294187	1.00[EUR][1000 genomes]
rs60495600	1.00[EUR][1000 genomes]
rs60725801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61042175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61336075	1.00[EUR][1000 genomes]
rs61437377	1.00[EUR][1000 genomes]
rs72487518	1.00[AMR][1000 genomes]
rs7294681	1.00[EUR][1000 genomes]
rs7297845	1.00[EUR][1000 genomes]
rs7304175	1.00[EUR][1000 genomes]
rs7307834	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7314155	1.00[EUR][1000 genomes]
rs73393833	1.00[EUR][1000 genomes]
rs73393835	1.00[EUR][1000 genomes]
rs73393837	1.00[EUR][1000 genomes]
rs73393841	1.00[EUR][1000 genomes]
rs73393842	1.00[EUR][1000 genomes]
rs73393866	1.00[EUR][1000 genomes]
rs73393869	1.00[EUR][1000 genomes]
rs73393881	1.00[EUR][1000 genomes]
rs73393882	1.00[EUR][1000 genomes]
rs73395723	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73395740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73395744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73395745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395770	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73395771	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73395772	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73395783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73395785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73397621	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73397624	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73397654	1.00[EUR][1000 genomes]
rs73397655	1.00[EUR][1000 genomes]
rs73397656	1.00[EUR][1000 genomes]
rs73397659	1.00[EUR][1000 genomes]
rs73397660	1.00[EUR][1000 genomes]
rs73397661	1.00[EUR][1000 genomes]
rs73397663	1.00[EUR][1000 genomes]
rs73397672	1.00[EUR][1000 genomes]
rs73397677	1.00[EUR][1000 genomes]
rs73397678	1.00[EUR][1000 genomes]
rs73397680	1.00[EUR][1000 genomes]
rs73397683	1.00[EUR][1000 genomes]
rs73397685	1.00[EUR][1000 genomes]
rs73397687	1.00[EUR][1000 genomes]
rs73397688	1.00[EUR][1000 genomes]
rs73397690	1.00[EUR][1000 genomes]
rs73397700	1.00[EUR][1000 genomes]
rs73397701	1.00[EUR][1000 genomes]
rs73399708	1.00[EUR][1000 genomes]
rs73399717	1.00[EUR][1000 genomes]
rs73399720	1.00[EUR][1000 genomes]
rs73399724	1.00[EUR][1000 genomes]
rs73399728	1.00[EUR][1000 genomes]
rs73399730	1.00[EUR][1000 genomes]
rs73399779	1.00[AMR][1000 genomes]
rs73399787	1.00[AMR][1000 genomes]
rs73399794	1.00[AMR][1000 genomes]
rs7959931	1.00[EUR][1000 genomes]
rs935249	0.81[ASN][1000 genomes]
rs9668528	1.00[AFR][1000 genomes];1.00[AMR][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv1826054	chr12:105505809-105568176	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	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	chr12:105502400-105524600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105502800-105516400	Weak transcription	Spleen	Spleen
3	chr12:105503000-105521800	Weak transcription	Stomach Mucosa	stomach
4	chr12:105503800-105508400	Weak transcription	Brain Angular Gyrus	brain
5	chr12:105503800-105509200	Weak transcription	Colonic Mucosa	Colon
6	chr12:105503800-105509400	Weak transcription	HSMMtube	muscle
7	chr12:105503800-105511600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:105503800-105511800	Weak transcription	Left Ventricle	heart
9	chr12:105503800-105512400	Weak transcription	Lung	lung
10	chr12:105503800-105512800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:105503800-105512800	Weak transcription	Fetal Stomach	stomach
12	chr12:105503800-105512800	Weak transcription	Pancreas	Pancrea
13	chr12:105503800-105516600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:105503800-105516600	Weak transcription	Gastric	stomach
15	chr12:105503800-105516800	Weak transcription	Esophagus	oesophagus
16	chr12:105503800-105517000	Weak transcription	Right Ventricle	heart
17	chr12:105503800-105525200	Weak transcription	Fetal Heart	heart
18	chr12:105503800-105544200	Weak transcription	Aorta	Aorta
19	chr12:105504000-105507800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:105504000-105509400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:105504000-105510000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:105504000-105510600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:105504000-105511600	Weak transcription	Ovary	ovary
24	chr12:105504000-105511800	Weak transcription	Brain Germinal Matrix	brain
25	chr12:105504000-105512400	Weak transcription	Thymus	Thymus
26	chr12:105504000-105516600	Weak transcription	Psoas Muscle	Psoas
27	chr12:105504000-105517000	Weak transcription	Small Intestine	intestine
28	chr12:105504200-105509800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:105504200-105509800	Weak transcription	Fetal Brain Female	brain
30	chr12:105504400-105508400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:105504400-105508400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:105504400-105509800	Weak transcription	Fetal Brain Male	brain
33	chr12:105504600-105509800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:105504800-105509800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:105505000-105508200	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:105505000-105508200	Weak transcription	HepG2	liver
37	chr12:105505000-105508600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:105505000-105509000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:105505000-105509800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:105505200-105517800	Strong transcription	HSMM	muscle
41	chr12:105505200-105530000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:105505200-105531000	Strong transcription	HMEC	breast
43	chr12:105505200-105542600	Strong transcription	Fetal Thymus	thymus
44	chr12:105505200-105559800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:105505200-105564000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:105505200-105567400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:105505200-105573000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:105505400-105507800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:105505400-105508400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:105505400-105508600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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