Variant report

Variant	rs7975001
Chromosome Location	chr12:122625774-122625775
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122625217..122627565-chr12:122689835..122692014,2	K562	blood:
2	chr12:122622146..122623768-chr12:122624080..122626451,2	K562	blood:
3	chr12:122625141..122628118-chr12:122628631..122630468,2	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1047796	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1047813	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10744177	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10744335	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10773037	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10846525	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057184	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11057654	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11057905	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11059094	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11060477	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11061156	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11061602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11608788	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11608792	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11609875	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12366611	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28385906	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28401575	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28410367	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28414202	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28421373	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28430881	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28450064	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28453771	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28461580	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28464252	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28478366	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28478717	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28498002	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28498376	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28503672	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28506952	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28517281	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28529535	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28530689	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28545660	0.81[EUR][1000 genomes]
rs28548845	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28569273	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28580546	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28585613	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28591322	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28605425	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28607028	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28613772	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28626850	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28631172	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28639626	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28642975	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28649184	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28652632	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28683032	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28699616	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28737311	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28739522	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34047484	0.84[EUR][1000 genomes]
rs34123446	0.86[EUR][1000 genomes]
rs34439774	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34532891	0.83[EUR][1000 genomes]
rs34741056	0.83[EUR][1000 genomes]
rs34974633	0.83[EUR][1000 genomes]
rs35249105	0.84[EUR][1000 genomes]
rs35676267	0.86[EUR][1000 genomes]
rs35764187	0.83[EUR][1000 genomes]
rs3809117	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3892367	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4758653	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4758654	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4758685	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758686	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4758687	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4758688	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4758690	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4758691	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61952902	0.83[EUR][1000 genomes]
rs61952904	0.84[EUR][1000 genomes]
rs61952920	0.81[EUR][1000 genomes]
rs61952922	0.86[EUR][1000 genomes]
rs61952923	0.85[EUR][1000 genomes]
rs6489238	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6489242	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6489244	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs709284	0.81[ASN][1000 genomes]
rs7312210	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73217796	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7484733	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7485054	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7485380	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7485447	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7486198	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7487292	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7487608	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7488268	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7488393	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7488857	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7953704	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7955571	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7955575	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7962500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7964148	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7967127	0.96[EUR][1000 genomes];0.91[ASN][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	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

No data

Chromatin state (count:121 , 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	chr12:122610200-122629200	Strong transcription	Primary T cells from cord blood	blood
3	chr12:122610200-122629200	Strong transcription	Fetal Thymus	thymus
4	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:122610600-122629200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:122610600-122629400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:122610600-122633200	Weak transcription	Right Atrium	heart
9	chr12:122610800-122628800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr12:122610800-122630600	Strong transcription	Thymus	Thymus
11	chr12:122611200-122626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:122611200-122630400	Strong transcription	Gastric	stomach
13	chr12:122611400-122628800	Strong transcription	Pancreas	Pancrea
14	chr12:122611400-122629800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr12:122611400-122630400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr12:122611600-122629000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:122611600-122630000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:122611600-122630600	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:122611800-122626400	Strong transcription	Spleen	Spleen
20	chr12:122611800-122628800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:122611800-122628800	Strong transcription	Fetal Lung	lung
22	chr12:122611800-122628800	Strong transcription	Rectal Smooth Muscle	rectum
23	chr12:122611800-122629000	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr12:122611800-122629400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:122612000-122628600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:122612000-122628800	Strong transcription	Fetal Brain Female	brain
27	chr12:122612000-122629400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr12:122612000-122630600	Strong transcription	Colonic Mucosa	Colon
29	chr12:122612000-122631000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:122612000-122632400	Strong transcription	Fetal Intestine Small	intestine
31	chr12:122612200-122627400	Strong transcription	Right Ventricle	heart
32	chr12:122612200-122628800	Strong transcription	Adipose Nuclei	Adipose
33	chr12:122612200-122632400	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:122613400-122628800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:122615000-122626200	Strong transcription	Lung	lung
36	chr12:122615000-122628000	Weak transcription	NHDF-Ad	bronchial
37	chr12:122615400-122626200	Weak transcription	Fetal Kidney	kidney
38	chr12:122615600-122630600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:122615800-122630800	Weak transcription	Hela-S3	cervix
40	chr12:122616000-122628400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr12:122616000-122629200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr12:122616000-122631600	Weak transcription	Fetal Brain Male	brain
43	chr12:122616200-122632600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:122616600-122629200	Strong transcription	Colon Smooth Muscle	Colon
45	chr12:122617800-122627200	Weak transcription	HepG2	liver
46	chr12:122617800-122630000	Weak transcription	NH-A	brain
47	chr12:122618000-122626400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr12:122618000-122626600	Strong transcription	Fetal Muscle Leg	muscle
49	chr12:122618000-122627000	Weak transcription	Small Intestine	intestine
50	chr12:122618000-122629000	Strong transcription	Liver	Liver

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