Variant report

Variant	rs7135851
Chromosome Location	chr12:42490001-42490002
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	chr12:42474170..42476425-chr12:42489656..42492488,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1064469	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap]
rs10785325	0.80[AMR][1000 genomes]
rs10785326	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10785327	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785330	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880229	0.83[AMR][1000 genomes]
rs10880231	0.83[AMR][1000 genomes]
rs10880238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880239	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880242	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10880253	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880254	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11181315	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11181330	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181333	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1226303	0.84[MEX][hapmap]
rs1238290	0.83[MEX][hapmap]
rs1683195	0.83[MEX][hapmap]
rs3990966	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6582378	0.84[MEX][hapmap]
rs6582381	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6582382	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6582383	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6582384	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67706143	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs712119	0.83[MEX][hapmap]
rs712123	0.83[MEX][hapmap]
rs7133752	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7135456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135595	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7136450	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7137522	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7296707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7297464	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.95[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];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7297971	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7298106	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7303028	0.88[MEX][hapmap]
rs7305104	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7315891	0.80[AMR][1000 genomes]
rs7956016	0.83[MEX][hapmap]
rs7959417	0.80[AMR][1000 genomes]
rs7959852	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964383	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7971943	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7975518	0.83[MEX][hapmap]
rs824734	0.88[MEX][hapmap]
rs865420	0.83[MEX][hapmap]
rs9738145	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9739472	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[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	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
2	nsv1047830	chr12:42466192-42497603	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv2025559	chr12:42481619-42491335	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42468400-42490200	Weak transcription	Spleen	Spleen
2	chr12:42469400-42491800	Weak transcription	Ovary	ovary
3	chr12:42470600-42491400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:42471000-42504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
6	chr12:42474000-42496000	Weak transcription	Fetal Intestine Large	intestine
7	chr12:42474200-42490600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
10	chr12:42474800-42491800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:42475000-42491800	Weak transcription	Brain Substantia Nigra	brain
12	chr12:42476000-42524400	Weak transcription	Gastric	stomach
13	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
14	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
15	chr12:42477600-42490400	Weak transcription	Thymus	Thymus
16	chr12:42478000-42505000	Weak transcription	Lung	lung
17	chr12:42478600-42511600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:42479200-42496800	Weak transcription	Psoas Muscle	Psoas
19	chr12:42479600-42505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:42480000-42492400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:42480200-42492000	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:42480200-42505600	Weak transcription	Fetal Lung	lung
23	chr12:42480200-42512000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:42480600-42491600	Weak transcription	Fetal Heart	heart
25	chr12:42480600-42504600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:42481600-42491200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:42481800-42491400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:42483000-42502800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:42483200-42499200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:42483600-42511400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:42484200-42504000	Weak transcription	Placenta	Placenta
32	chr12:42484400-42524800	Weak transcription	Right Ventricle	heart
33	chr12:42484600-42491000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:42484600-42498800	Weak transcription	Fetal Kidney	kidney
35	chr12:42484800-42496200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:42484800-42497400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:42485000-42491800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:42485000-42491800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:42485000-42504000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:42485200-42511600	Weak transcription	NHDF-Ad	bronchial
41	chr12:42485600-42498400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:42485800-42491800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:42485800-42501400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:42485800-42512200	Weak transcription	Brain Angular Gyrus	brain
45	chr12:42486000-42490200	Weak transcription	NHEK	skin
46	chr12:42486000-42513000	Weak transcription	Aorta	Aorta
47	chr12:42486200-42490200	Weak transcription	HSMM	muscle
48	chr12:42486200-42493800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:42486400-42492800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:42486400-42492800	Weak transcription	Left Ventricle	heart

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