Variant report

Variant	rs61237339
Chromosome Location	chr12:67711040-67711041
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	chr12:67708053..67712275-chr12:67717926..67720355,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1680	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28785562	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55646172	0.90[AFR][1000 genomes]
rs55718199	0.94[EUR][1000 genomes]
rs56009409	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56044711	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56256810	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56956717	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57682356	0.88[EUR][1000 genomes]
rs58181317	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58398438	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58559744	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58577936	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58982313	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59402354	0.82[EUR][1000 genomes]
rs59826349	0.94[EUR][1000 genomes]
rs59842954	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60104343	0.88[AFR][1000 genomes]
rs61371870	0.88[EUR][1000 genomes]
rs61539332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6581748	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7134160	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7300154	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7301023	0.94[EUR][1000 genomes]
rs7308079	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7308322	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7313387	0.88[EUR][1000 genomes]
rs73318892	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73320730	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73320788	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324517	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324577	0.88[EUR][1000 genomes]
rs74098702	0.94[EUR][1000 genomes]
rs74100307	0.82[EUR][1000 genomes]
rs74100308	0.94[EUR][1000 genomes]
rs74100320	0.94[EUR][1000 genomes]
rs74100321	0.94[EUR][1000 genomes]
rs74100325	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74100337	0.94[EUR][1000 genomes]
rs7953592	0.88[EUR][1000 genomes]
rs7960660	0.88[EUR][1000 genomes]
rs7968351	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974384	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977176	0.88[AMR][1000 genomes];0.94[EUR][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	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv756	chr12:67703587-67744743	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67681000-67714200	Weak transcription	Spleen	Spleen
2	chr12:67682200-67715200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:67686000-67717000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:67686200-67711200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:67686200-67716200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:67686400-67716000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:67687800-67715400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:67688200-67711400	Strong transcription	Placenta	Placenta
9	chr12:67688200-67717000	Strong transcription	NH-A	brain
10	chr12:67688400-67716000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:67688800-67711800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:67691000-67716000	Weak transcription	Fetal Intestine Small	intestine
13	chr12:67698600-67714000	Strong transcription	Fetal Thymus	thymus
14	chr12:67700000-67713200	Weak transcription	Pancreas	Pancrea
15	chr12:67700000-67715400	Weak transcription	Lung	lung
16	chr12:67700000-67716200	Weak transcription	Fetal Stomach	stomach
17	chr12:67700200-67717600	Weak transcription	Gastric	stomach
18	chr12:67700400-67712800	Weak transcription	Ovary	ovary
19	chr12:67700600-67712400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:67700600-67712400	Weak transcription	Esophagus	oesophagus
21	chr12:67700600-67716000	Weak transcription	Aorta	Aorta
22	chr12:67700600-67717400	Weak transcription	Psoas Muscle	Psoas
23	chr12:67702800-67714600	Weak transcription	Small Intestine	intestine
24	chr12:67704400-67712600	Weak transcription	Brain Angular Gyrus	brain
25	chr12:67706200-67716400	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:67706600-67714200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:67706600-67716200	Weak transcription	Fetal Heart	heart
28	chr12:67706600-67720600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:67706800-67712200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:67706800-67712200	Weak transcription	NHLF	lung
31	chr12:67706800-67712400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:67706800-67712400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:67706800-67712800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:67706800-67713200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:67706800-67713400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:67706800-67714400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:67706800-67714600	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:67706800-67714800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:67706800-67716600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:67707000-67712600	Weak transcription	Fetal Kidney	kidney
41	chr12:67707400-67712600	Weak transcription	Colonic Mucosa	Colon
42	chr12:67707400-67714400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:67707800-67714200	Weak transcription	Brain Germinal Matrix	brain
44	chr12:67708000-67714600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:67708200-67712400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr12:67708200-67712400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr12:67708200-67714400	Weak transcription	K562	blood
48	chr12:67708200-67714600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:67708200-67715000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr12:67708400-67712400	Weak transcription	GM12878-XiMat	blood

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