Variant report

Variant	rs1655594
Chromosome Location	chr12:83399875-83399876
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83396959..83399926-chr12:83808616..83810997,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10082865	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1032122	0.90[CHB][hapmap]
rs10778922	0.82[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap]
rs10778925	0.84[JPT][hapmap]
rs10778926	0.86[JPT][hapmap]
rs10778928	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs10778930	0.82[ASN][1000 genomes]
rs10862540	0.86[JPT][hapmap]
rs10862541	0.85[JPT][hapmap]
rs10862542	0.86[JPT][hapmap]
rs1369035	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1484992	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1617818	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1619500	0.86[JPT][hapmap]
rs1623131	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1624819	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1655592	0.82[ASN][1000 genomes]
rs1655593	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1655595	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1655597	0.86[JPT][hapmap]
rs1655598	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1655599	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1655602	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1655603	0.85[JPT][hapmap]
rs1655604	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1655605	0.81[ASN][1000 genomes]
rs1655606	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1682577	0.86[JPT][hapmap]
rs1682584	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1682585	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1682586	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1682589	0.86[JPT][hapmap]
rs1682600	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1682601	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1682602	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1682604	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1682605	0.82[ASN][1000 genomes]
rs1796145	0.90[JPT][hapmap]
rs1796146	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1796175	0.86[JPT][hapmap]
rs1796176	0.83[JPT][hapmap]
rs1796177	0.84[ASN][1000 genomes]
rs1796192	0.82[ASN][1000 genomes]
rs1796193	0.82[ASN][1000 genomes]
rs1796194	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1796195	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1796196	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1796197	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1796198	0.82[ASN][1000 genomes]
rs1796199	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1796205	0.86[JPT][hapmap]
rs1796206	0.84[JPT][hapmap]
rs1796292	0.82[ASN][1000 genomes]
rs1796293	0.82[ASN][1000 genomes]
rs1821443	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1836247	0.86[JPT][hapmap]
rs2019662	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs2019742	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2082648	0.86[JPT][hapmap]
rs2403024	1.00[CHB][hapmap]
rs2403054	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2952614	0.81[JPT][hapmap]
rs35137237	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3940515	0.82[ASN][1000 genomes]
rs7135727	0.82[ASN][1000 genomes]
rs745156	0.82[ASN][1000 genomes]
rs8181714	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs963363	0.82[ASN][1000 genomes]
rs963364	0.86[JPT][hapmap];0.82[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83358400-83409200	Weak transcription	Brain Angular Gyrus	brain
2	chr12:83358600-83409400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:83375600-83405600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:83377600-83400000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:83377600-83409400	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:83377800-83410200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:83378400-83409600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:83378800-83409000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:83380000-83403200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:83380000-83409200	Weak transcription	Gastric	stomach
11	chr12:83386000-83404200	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:83386200-83403600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:83388400-83400800	Weak transcription	Fetal Kidney	kidney
14	chr12:83390200-83409200	Weak transcription	Pancreas	Pancrea
15	chr12:83392200-83409000	Weak transcription	Stomach Mucosa	stomach
16	chr12:83397000-83403800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:83398000-83409000	Weak transcription	Brain Substantia Nigra	brain
18	chr12:83398000-83409000	Weak transcription	Fetal Heart	heart
19	chr12:83398400-83401600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:83398400-83402600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:83398400-83409600	Weak transcription	Brain Anterior Caudate	brain
22	chr12:83398800-83405800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:83399000-83400200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:83399000-83401600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:83399200-83400000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
26	chr12:83399200-83400000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:83399200-83400000	Strong transcription	Esophagus	oesophagus
28	chr12:83399200-83400000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr12:83399200-83400000	Enhancers	GM12878-XiMat	blood
30	chr12:83399200-83400200	Strong transcription	Fetal Intestine Large	intestine
31	chr12:83399200-83402600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:83399400-83400000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:83399400-83400000	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr12:83399400-83400200	Strong transcription	Brain Cingulate Gyrus	brain
35	chr12:83399600-83400200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr12:83399600-83400400	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr12:83399600-83401400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:83399800-83400200	ZNF genes & repeats	Fetal Lung	lung
39	chr12:83399800-83400200	Strong transcription	Fetal Stomach	stomach
40	chr12:83399800-83400800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:83399800-83409400	Weak transcription	Fetal Brain Male	brain

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