Variant report

Variant	rs708202
Chromosome Location	chr12:31537937-31537938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1038066	0.83[ASN][1000 genomes]
rs10843946	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051420	1.00[ASN][1000 genomes]
rs11051457	1.00[ASN][1000 genomes]
rs11051458	0.83[ASN][1000 genomes]
rs11051459	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150944	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150946	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150947	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150951	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150952	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150956	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150957	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150958	1.00[ASN][1000 genomes]
rs1150959	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150960	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150961	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299050	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302576	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305954	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259215	1.00[ASN][1000 genomes]
rs1259237	1.00[ASN][1000 genomes]
rs1259240	1.00[ASN][1000 genomes]
rs1259357	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259358	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259387	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259388	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259390	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259391	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259392	0.88[EUR][1000 genomes]
rs1259394	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259402	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259403	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259406	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259407	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259408	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1259410	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259411	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259412	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259416	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259429	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259436	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259440	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1262389	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1262391	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1262392	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267631	1.00[ASN][1000 genomes]
rs1267686	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267688	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267689	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1270211	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1271657	1.00[ASN][1000 genomes]
rs1271662	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654008	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1677155	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677156	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677182	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677188	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677190	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716193	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1798769	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1798781	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1798782	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864912	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568880	1.00[ASN][1000 genomes]
rs2568886	1.00[ASN][1000 genomes]
rs2568896	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2617179	1.00[ASN][1000 genomes]
rs2617189	1.00[ASN][1000 genomes]
rs2617192	1.00[ASN][1000 genomes]
rs2617194	1.00[ASN][1000 genomes]
rs2617210	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679488	1.00[ASN][1000 genomes]
rs2679493	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679501	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679502	1.00[ASN][1000 genomes]
rs2679503	1.00[ASN][1000 genomes]
rs2682461	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682675	0.86[AFR][1000 genomes]
rs2682681	1.00[ASN][1000 genomes]
rs2682682	1.00[ASN][1000 genomes]
rs2682683	1.00[ASN][1000 genomes]
rs2682684	1.00[ASN][1000 genomes]
rs2682690	1.00[ASN][1000 genomes]
rs2682702	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2947175	1.00[ASN][1000 genomes]
rs4931491	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61663978	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67985192	1.00[ASN][1000 genomes]
rs708196	0.83[AFR][1000 genomes]
rs708198	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708199	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708201	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708207	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708210	0.85[AFR][1000 genomes]
rs708211	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708216	0.82[AFR][1000 genomes]
rs708218	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708220	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300482	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302238	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302818	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs792874	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793147	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793152	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793159	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793164	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs793172	1.00[ASN][1000 genomes]
rs793178	1.00[ASN][1000 genomes]
rs793181	1.00[ASN][1000 genomes]
rs793183	1.00[ASN][1000 genomes]
rs793187	1.00[ASN][1000 genomes]
rs793188	1.00[ASN][1000 genomes]
rs793189	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs796963	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs811088	1.00[ASN][1000 genomes]
rs971294	1.00[ASN][1000 genomes]
rs973510	1.00[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	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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31523800-31538200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:31524400-31538200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:31524400-31540200	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:31524800-31538000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:31530800-31538000	Weak transcription	Liver	Liver
6	chr12:31530800-31541400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:31531800-31539600	Weak transcription	HSMM	muscle
8	chr12:31532800-31538800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:31534000-31539000	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:31534200-31538000	Weak transcription	A549	lung
11	chr12:31534400-31540400	Weak transcription	Psoas Muscle	Psoas
12	chr12:31534800-31538400	Weak transcription	Ovary	ovary
13	chr12:31534800-31538600	Weak transcription	Fetal Intestine Small	intestine
14	chr12:31534800-31541800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:31535000-31538000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:31535000-31538200	Weak transcription	Adipose Nuclei	Adipose
17	chr12:31535000-31538200	Weak transcription	Left Ventricle	heart
18	chr12:31535000-31539000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:31535200-31538000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:31535200-31538200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:31535200-31538200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:31535200-31538200	Weak transcription	Brain Anterior Caudate	brain
23	chr12:31535400-31538000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:31535400-31538200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr12:31535400-31538200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:31535400-31538200	Weak transcription	Aorta	Aorta
27	chr12:31535400-31538400	Weak transcription	Brain Germinal Matrix	brain
28	chr12:31535400-31538800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:31535400-31541800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:31535600-31539000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:31535600-31560600	Weak transcription	Osteobl	bone
32	chr12:31535800-31538200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:31535800-31539400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:31535800-31544000	Weak transcription	Fetal Lung	lung
35	chr12:31536000-31538000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr12:31536000-31539000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:31536000-31540400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:31536000-31550600	Weak transcription	Right Ventricle	heart
39	chr12:31536200-31538000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr12:31536200-31538200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:31536200-31538400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:31536400-31538400	Weak transcription	Brain Angular Gyrus	brain
43	chr12:31536400-31538600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:31536400-31539000	Weak transcription	HSMMtube	muscle
45	chr12:31536400-31539800	Weak transcription	Hela-S3	cervix
46	chr12:31536400-31624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:31536600-31538200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr12:31536600-31538800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:31536600-31547000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:31536600-31577400	Weak transcription	Small Intestine	intestine

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