Variant report

Variant	rs1836247
Chromosome Location	chr12:83410188-83410189
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	chr12:83409479..83411224-chr12:83411247..83412794,2	K562	blood:
2	chr12:83409329..83411312-chr12:83542800..83545681,4	K562	blood:

Variant related genes	Relation type
ENSG00000213270	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10082865	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10746263	0.90[ASN][1000 genomes]
rs10778925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10778926	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10778928	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10778930	0.96[ASN][1000 genomes]
rs10778931	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10778933	0.82[EUR][1000 genomes]
rs10862536	0.90[ASN][1000 genomes]
rs10862537	0.90[ASN][1000 genomes]
rs10862538	0.90[ASN][1000 genomes]
rs10862540	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10862541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10862542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10862573	0.82[EUR][1000 genomes]
rs11115527	1.00[CEU][hapmap];0.83[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs12824406	0.90[ASN][1000 genomes]
rs1369035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1484992	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1617818	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1619500	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1623131	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1624819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1655592	0.96[ASN][1000 genomes]
rs1655593	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1655594	0.86[JPT][hapmap]
rs1655596	0.81[ASN][1000 genomes]
rs1655597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1655598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1655599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1655601	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs1655602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1655603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1655604	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1655605	0.94[ASN][1000 genomes]
rs1655606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1655608	0.90[ASN][1000 genomes]
rs1682577	0.85[CEU][hapmap];0.88[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1682584	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1682585	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1682586	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1682587	0.90[ASN][1000 genomes]
rs1682588	0.89[ASN][1000 genomes]
rs1682589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1682600	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1682601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1682602	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1682604	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1682605	0.96[ASN][1000 genomes]
rs1796145	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1796146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1796151	0.90[ASN][1000 genomes]
rs1796152	0.90[ASN][1000 genomes]
rs1796153	0.90[ASN][1000 genomes]
rs1796154	0.90[ASN][1000 genomes]
rs1796175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796176	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1796191	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796192	0.96[ASN][1000 genomes]
rs1796193	0.96[ASN][1000 genomes]
rs1796194	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1796195	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1796196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1796197	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1796198	0.96[ASN][1000 genomes]
rs1796199	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1796205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1796206	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1796207	0.90[ASN][1000 genomes]
rs1796292	0.96[ASN][1000 genomes]
rs1796293	0.96[ASN][1000 genomes]
rs1821443	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1865357	0.93[ASN][1000 genomes]
rs2019742	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2082647	0.90[ASN][1000 genomes]
rs2082648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2086909	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2403054	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2629040	0.90[ASN][1000 genomes]
rs2629041	0.83[ASN][1000 genomes]
rs2952614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3940515	1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs6539699	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7135727	0.96[ASN][1000 genomes]
rs7307961	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs7314831	0.90[ASN][1000 genomes]
rs745156	0.96[ASN][1000 genomes]
rs7487579	0.89[ASN][1000 genomes]
rs7974003	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[MEX][hapmap]
rs8181714	0.86[JPT][hapmap]
rs963363	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs963364	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv559557	chr12:83334204-83453620	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	nsv1047239	chr12:83362299-83444855	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83377800-83410200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:83404400-83417200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:83404400-83420800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:83404400-83422000	Weak transcription	Esophagus	oesophagus
5	chr12:83405000-83436200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:83405400-83410400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:83405400-83410600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:83405400-83411200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:83406000-83410400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:83408800-83413400	Enhancers	Fetal Stomach	stomach
11	chr12:83409000-83410600	Enhancers	Stomach Mucosa	stomach
12	chr12:83409000-83411000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:83409000-83411600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:83409200-83410200	Active TSS	Adipose Nuclei	Adipose
15	chr12:83409200-83410400	Flanking Active TSS	Fetal Lung	lung
16	chr12:83409200-83410600	Enhancers	HMEC	breast
17	chr12:83409400-83410200	Active TSS	Colon Smooth Muscle	Colon
18	chr12:83409400-83410200	Active TSS	Ovary	ovary
19	chr12:83409400-83410200	Active TSS	Right Atrium	heart
20	chr12:83409400-83410200	Active TSS	Stomach Smooth Muscle	stomach
21	chr12:83409400-83410200	Active TSS	NHDF-Ad	bronchial
22	chr12:83409400-83410400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:83409400-83410400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr12:83409400-83410400	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr12:83409400-83410400	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr12:83409400-83410400	Flanking Active TSS	HUVEC	blood vessel
27	chr12:83409400-83410400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr12:83409400-83410400	Enhancers	NHEK	skin
29	chr12:83409400-83410600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:83409400-83411000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr12:83409400-83411200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:83409400-83411600	Enhancers	Brain Cingulate Gyrus	brain
33	chr12:83409600-83410400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr12:83409600-83410600	Enhancers	HSMM	muscle
35	chr12:83409600-83410600	Enhancers	HSMMtube	muscle
36	chr12:83409600-83411000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr12:83409600-83411200	Enhancers	Brain Anterior Caudate	brain
38	chr12:83409600-83412400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:83409800-83410200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:83409800-83410200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr12:83409800-83410200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:83409800-83410200	Enhancers	Brain Substantia Nigra	brain
43	chr12:83409800-83410200	Active TSS	K562	blood
44	chr12:83409800-83410200	Active TSS	NHLF	lung
45	chr12:83409800-83410400	Active TSS	Brain Hippocampus Middle	brain
46	chr12:83409800-83410600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:83409800-83410600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr12:83409800-83411200	Enhancers	Brain Angular Gyrus	brain
49	chr12:83409800-83411400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr12:83409800-83411600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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