Variant report

Variant	rs3809117
Chromosome Location	chr12:122630285-122630286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122471389..122473549-chr12:122630126..122632348,2	K562	blood:
2	chr12:122625141..122628118-chr12:122628631..122630468,2	MCF-7	breast:
3	chr12:122623410..122625195-chr12:122629931..122632295,2	K562	blood:
4	chr12:122623695..122625503-chr12:122629931..122631877,2	K562	blood:
5	chr12:122628543..122630862-chr12:122633835..122635395,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1047796	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1047813	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744177	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10744335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10773037	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10846525	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11057184	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057654	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11057905	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11058789	0.82[MEX][hapmap]
rs11059094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11059505	0.87[MEX][hapmap]
rs11060477	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11061156	0.83[EUR][1000 genomes]
rs11061602	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11608788	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11608792	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11609875	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12366611	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28385906	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28401575	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28410367	0.84[EUR][1000 genomes]
rs28414202	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28421373	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28430881	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28450064	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28453771	0.86[EUR][1000 genomes]
rs28461580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28464252	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28478366	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28478717	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28498002	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28498376	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28503672	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28506952	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28517281	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28529535	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28530689	0.81[EUR][1000 genomes]
rs28545660	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28548845	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28569273	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28580546	0.83[EUR][1000 genomes]
rs28585613	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28591322	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28605425	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28607028	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28613772	0.85[EUR][1000 genomes]
rs28626850	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28631172	0.87[EUR][1000 genomes]
rs28639626	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28642975	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28649184	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28652632	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28683032	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28699616	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28737311	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28739522	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34047484	0.84[EUR][1000 genomes]
rs34123446	0.85[EUR][1000 genomes]
rs34439774	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34532891	0.83[EUR][1000 genomes]
rs34741056	0.82[EUR][1000 genomes]
rs34974633	0.83[EUR][1000 genomes]
rs35249105	0.84[EUR][1000 genomes]
rs35676267	0.85[EUR][1000 genomes]
rs35764187	0.83[EUR][1000 genomes]
rs3892367	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4372487	0.82[MEX][hapmap]
rs4758653	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4758654	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4758685	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4758686	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4758687	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4758688	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4758690	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4758691	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61952902	0.82[EUR][1000 genomes]
rs61952904	0.83[EUR][1000 genomes]
rs61952920	0.80[EUR][1000 genomes]
rs61952922	0.85[EUR][1000 genomes]
rs61952923	0.84[EUR][1000 genomes]
rs6489238	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6489242	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6489244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs709284	0.89[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap]
rs7312210	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73217796	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7484733	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7485054	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7485380	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7485447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7486198	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7487292	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];0.90[ASN][1000 genomes]
rs7487608	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7488268	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7488393	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7488857	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7953704	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7955571	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7955575	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7962500	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7964148	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7967127	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7968808	0.86[MEX][hapmap]
rs7972979	0.87[MEX][hapmap]
rs7975001	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7978353	0.85[GIH][hapmap]

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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122608600-122632800	Strong transcription	Fetal Stomach	stomach
2	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:122610600-122633200	Weak transcription	Right Atrium	heart
5	chr12:122610800-122630600	Strong transcription	Thymus	Thymus
6	chr12:122611200-122630400	Strong transcription	Gastric	stomach
7	chr12:122611400-122630400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr12:122611600-122630600	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:122612000-122630600	Strong transcription	Colonic Mucosa	Colon
10	chr12:122612000-122631000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:122612000-122632400	Strong transcription	Fetal Intestine Small	intestine
12	chr12:122612200-122632400	Strong transcription	Stomach Smooth Muscle	stomach
13	chr12:122615600-122630600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:122615800-122630800	Weak transcription	Hela-S3	cervix
15	chr12:122616000-122631600	Weak transcription	Fetal Brain Male	brain
16	chr12:122616200-122632600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:122620200-122630800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:122623200-122630600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:122625200-122631000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:122627000-122646800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:122627400-122631200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:122627400-122636400	Weak transcription	K562	blood
23	chr12:122627600-122630400	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:122627600-122633800	Weak transcription	Primary B cells from cord blood	blood
25	chr12:122627800-122630600	Strong transcription	Right Ventricle	heart
26	chr12:122627800-122636000	Weak transcription	Psoas Muscle	Psoas
27	chr12:122628000-122631000	Weak transcription	Fetal Kidney	kidney
28	chr12:122628000-122633400	Weak transcription	Small Intestine	intestine
29	chr12:122628200-122630600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:122628200-122631600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:122628200-122633400	Weak transcription	Stomach Mucosa	stomach
32	chr12:122628200-122633800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:122628200-122637400	Weak transcription	Brain Substantia Nigra	brain
34	chr12:122628400-122631200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr12:122628400-122631800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:122628400-122636400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:122628600-122630400	Weak transcription	Left Ventricle	heart
38	chr12:122628600-122630400	Weak transcription	HSMM	muscle
39	chr12:122628600-122630600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:122628600-122630600	Weak transcription	NHEK	skin
41	chr12:122628600-122632800	Weak transcription	Placenta	Placenta
42	chr12:122628600-122633200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:122628600-122633400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:122628600-122640000	Weak transcription	Esophagus	oesophagus
45	chr12:122628800-122630400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:122628800-122630400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:122628800-122630400	Weak transcription	Pancreas	Pancrea
48	chr12:122628800-122630400	Weak transcription	Dnd41	blood
49	chr12:122628800-122630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:122628800-122631200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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