Variant report

Variant	rs793150
Chromosome Location	chr12:31572163-31572164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31571437..31573698-chr12:31576190..31578672,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1012154	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs10771832	0.80[CHB][hapmap]
rs1150942	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1150943	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1150945	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1150950	0.83[AFR][1000 genomes]
rs1150953	0.90[CEU][hapmap];0.86[CHB][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs1150954	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1150955	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1150963	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1259233	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259235	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs1259241	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259353	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259354	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259356	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259359	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259386	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1259395	0.84[EUR][1000 genomes]
rs1259405	1.00[CEU][hapmap];0.85[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259409	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs1259426	0.81[ASN][1000 genomes]
rs1259430	0.85[CEU][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes]
rs1259435	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259437	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1259438	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259441	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1262390	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1272773	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1469673	0.80[CHB][hapmap]
rs1677186	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1677187	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1677189	0.82[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap]
rs1716216	0.90[CEU][hapmap];0.86[CHB][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes]
rs2061761	1.00[CEU][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2116704	0.80[CHB][hapmap]
rs2374190	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs2568884	0.86[CHB][hapmap]
rs2568885	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2568887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2568888	0.89[AFR][1000 genomes]
rs2568894	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2568902	0.93[AMR][1000 genomes]
rs2604052	0.83[ASN][1000 genomes]
rs2617178	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2617191	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2617200	0.91[CEU][hapmap];0.86[CHB][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs2682671	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2682674	0.95[ASN][1000 genomes]
rs2682677	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2682679	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2682680	0.88[ASN][1000 genomes]
rs2682695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2682697	0.92[CHB][hapmap]
rs35906870	0.87[ASN][1000 genomes]
rs708200	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs708212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs708215	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs708217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7302698	0.80[CHB][hapmap]
rs792871	0.90[CEU][hapmap];0.92[CHB][hapmap];0.87[AMR][1000 genomes]
rs792875	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs793148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793149	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs793171	0.91[CEU][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs793173	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs793174	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs793175	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs793176	0.85[CHB][hapmap];0.85[AFR][1000 genomes]
rs793177	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs793186	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs793191	0.90[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes]
rs809407	0.82[ASN][1000 genomes]
rs899159	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs976874	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31536400-31624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:31536600-31577400	Weak transcription	Small Intestine	intestine
3	chr12:31537400-31604800	Weak transcription	Spleen	Spleen
4	chr12:31537600-31580800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:31537800-31572400	Weak transcription	Stomach Mucosa	stomach
6	chr12:31539800-31584800	Weak transcription	Fetal Heart	heart
7	chr12:31540800-31572200	Weak transcription	Lung	lung
8	chr12:31540800-31573200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:31540800-31576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:31542000-31578400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:31542200-31583600	Weak transcription	Placenta	Placenta
12	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:31542600-31605800	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:31542800-31575400	Weak transcription	Fetal Brain Male	brain
15	chr12:31542800-31578800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:31544200-31579000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:31544400-31581400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:31544600-31584200	Weak transcription	Fetal Lung	lung
19	chr12:31544800-31576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:31545800-31583600	Weak transcription	Psoas Muscle	Psoas
21	chr12:31549800-31618000	Weak transcription	Pancreas	Pancrea
22	chr12:31550800-31573200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:31555600-31579600	Weak transcription	HepG2	liver
24	chr12:31556200-31574000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:31556200-31584800	Weak transcription	NHDF-Ad	bronchial
26	chr12:31556200-31587200	Weak transcription	NH-A	brain
27	chr12:31557000-31573000	Weak transcription	Gastric	stomach
28	chr12:31557200-31623600	Weak transcription	Hela-S3	cervix
29	chr12:31558200-31580000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:31560400-31577600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:31561200-31572600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:31562400-31620600	Weak transcription	Brain Angular Gyrus	brain
33	chr12:31562400-31644400	Weak transcription	Brain Substantia Nigra	brain
34	chr12:31564800-31572400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:31565800-31578400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:31566200-31586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:31566800-31579800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:31567400-31635800	Weak transcription	Osteobl	bone
39	chr12:31567600-31572200	Weak transcription	Primary B cells from cord blood	blood
40	chr12:31567800-31642800	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:31568000-31576200	Weak transcription	Brain Germinal Matrix	brain
42	chr12:31569000-31574400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:31569400-31572600	Strong transcription	Adipose Nuclei	Adipose
44	chr12:31569600-31575600	Strong transcription	Ovary	ovary
45	chr12:31569600-31576600	Weak transcription	Right Atrium	heart
46	chr12:31570400-31572400	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr12:31570400-31572600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:31570400-31572600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr12:31570400-31574200	Strong transcription	Liver	Liver
50	chr12:31570600-31572400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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