Variant report

Variant	rs865420
Chromosome Location	chr12:42498400-42498401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42497518..42500204-chr12:42502639..42504620,2	K562	blood:
2	chr12:42488035..42489890-chr12:42495880..42498709,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1064469	0.87[MEX][hapmap]
rs1069644	0.93[JPT][hapmap]
rs10880275	0.88[CHD][hapmap];0.93[JPT][hapmap]
rs10880279	0.88[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap]
rs1226303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1238290	0.88[CHD][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap]
rs1463613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1628871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1683195	0.91[MEX][hapmap]
rs1683198	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1683202	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1688854	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1688874	0.81[AMR][1000 genomes]
rs1688879	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1688884	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1732350	0.80[AMR][1000 genomes]
rs1732351	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes]
rs1732352	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1994284	0.81[AMR][1000 genomes]
rs3852592	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3990966	0.83[MEX][hapmap]
rs6582378	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes]
rs6582383	0.83[MEX][hapmap]
rs6582392	0.88[CHD][hapmap];0.93[JPT][hapmap]
rs712106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs712119	0.88[CHD][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap]
rs712120	0.95[CEU][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes]
rs712122	0.93[JPT][hapmap]
rs712123	0.88[CHD][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap]
rs712125	0.93[JPT][hapmap]
rs712129	0.93[JPT][hapmap]
rs7135851	0.83[MEX][hapmap]
rs7297464	0.83[MEX][hapmap]
rs7303028	1.00[CEU][hapmap];0.96[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7956016	0.88[CHD][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap]
rs7959852	0.83[MEX][hapmap]
rs7960176	0.88[CHD][hapmap];0.93[JPT][hapmap]
rs7964383	0.83[MEX][hapmap]
rs7970115	0.87[JPT][hapmap]
rs7971943	0.83[MEX][hapmap]
rs7975518	0.91[MEX][hapmap]
rs7978993	0.93[JPT][hapmap]
rs824697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs824699	0.80[AMR][1000 genomes]
rs824716	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes]
rs824717	0.81[AMR][1000 genomes]
rs824718	0.81[AMR][1000 genomes]
rs824722	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs824724	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs824726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs824734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs824736	0.85[EUR][1000 genomes]
rs824738	0.95[CEU][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs824741	0.93[JPT][hapmap]
rs844046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42471000-42504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
3	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
5	chr12:42476000-42524400	Weak transcription	Gastric	stomach
6	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
7	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
8	chr12:42478000-42505000	Weak transcription	Lung	lung
9	chr12:42478600-42511600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:42479600-42505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:42480200-42505600	Weak transcription	Fetal Lung	lung
12	chr12:42480200-42512000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:42480600-42504600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:42483000-42502800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:42483200-42499200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:42483600-42511400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:42484200-42504000	Weak transcription	Placenta	Placenta
18	chr12:42484400-42524800	Weak transcription	Right Ventricle	heart
19	chr12:42484600-42498800	Weak transcription	Fetal Kidney	kidney
20	chr12:42485000-42504000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:42485200-42511600	Weak transcription	NHDF-Ad	bronchial
22	chr12:42485600-42498400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:42485800-42501400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:42485800-42512200	Weak transcription	Brain Angular Gyrus	brain
25	chr12:42486000-42513000	Weak transcription	Aorta	Aorta
26	chr12:42488200-42505400	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:42488400-42504400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:42488400-42504400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:42488400-42504800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:42488400-42504800	Weak transcription	Fetal Intestine Small	intestine
31	chr12:42488400-42505000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:42488400-42512000	Weak transcription	Osteobl	bone
33	chr12:42488600-42505000	Weak transcription	Fetal Stomach	stomach
34	chr12:42488600-42518600	Weak transcription	Fetal Brain Male	brain
35	chr12:42488800-42511800	Weak transcription	HepG2	liver
36	chr12:42490800-42506600	Weak transcription	NH-A	brain
37	chr12:42490800-42511200	Weak transcription	HSMM	muscle
38	chr12:42491200-42499200	Weak transcription	Liver	Liver
39	chr12:42491400-42504800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:42491400-42511200	Weak transcription	A549	lung
41	chr12:42491800-42499800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:42492000-42498400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:42492000-42504400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:42492200-42501200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:42492200-42501600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:42492200-42505000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:42492200-42505000	Weak transcription	Ovary	ovary
48	chr12:42492200-42505400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:42492200-42511400	Weak transcription	Adipose Nuclei	Adipose
50	chr12:42492200-42511600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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