Variant report

Variant	rs12657083
Chromosome Location	chr5:146812088-146812089
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	chr5:146802902..146805345-chr5:146810324..146812732,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10042298	1.00[CEU][hapmap]
rs10043932	1.00[CEU][hapmap]
rs10045916	1.00[CEU][hapmap]
rs10476887	1.00[CEU][hapmap]
rs11952440	1.00[CEU][hapmap]
rs11955404	1.00[CEU][hapmap]
rs12653560	1.00[MEX][hapmap]
rs12655492	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[ASN][1000 genomes]
rs12657176	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1432852	1.00[CEU][hapmap]
rs1432853	1.00[MEX][hapmap]
rs1432854	1.00[MEX][hapmap]
rs1549915	1.00[CEU][hapmap]
rs17096661	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs17106723	0.85[CHB][hapmap];0.81[AMR][1000 genomes]
rs17106725	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs17106726	0.85[CHB][hapmap]
rs17106743	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs17106761	0.84[AFR][1000 genomes]
rs17106765	0.89[YRI][hapmap];0.91[AFR][1000 genomes]
rs2163767	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs3792839	1.00[CEU][hapmap]
rs55689104	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57782659	0.89[AFR][1000 genomes]
rs58995894	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59892472	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6886313	1.00[CEU][hapmap]
rs6891468	1.00[CEU][hapmap]
rs6897123	1.00[CEU][hapmap]
rs73264219	0.95[AMR][1000 genomes]
rs73264220	0.91[AMR][1000 genomes]
rs73794725	0.99[AFR][1000 genomes]
rs73794726	0.97[AFR][1000 genomes]
rs73794728	0.97[AFR][1000 genomes]
rs73794730	0.97[AFR][1000 genomes]
rs73794763	0.83[AFR][1000 genomes]
rs7716469	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7737670	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146798200-146815600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:146799000-146818400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:146804400-146815800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:146804800-146831600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:146805800-146819200	Enhancers	Colon Smooth Muscle	Colon
6	chr5:146806000-146812400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr5:146806000-146814800	Enhancers	Fetal Brain Male	brain
8	chr5:146807600-146812800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:146808000-146816200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:146808200-146816400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:146808200-146816600	Weak transcription	Osteobl	bone
12	chr5:146808200-146818800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:146809000-146816600	Weak transcription	Esophagus	oesophagus
14	chr5:146809400-146819200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:146809800-146814000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:146810000-146823400	Weak transcription	Small Intestine	intestine
17	chr5:146810200-146812800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:146810400-146812200	Enhancers	Fetal Muscle Leg	muscle
19	chr5:146810400-146812400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:146810400-146813200	Enhancers	Fetal Brain Female	brain
21	chr5:146810400-146815600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr5:146810600-146812200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:146810800-146812200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:146810800-146812200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr5:146810800-146812200	Enhancers	Fetal Heart	heart
26	chr5:146810800-146812200	Enhancers	Spleen	Spleen
27	chr5:146810800-146812400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:146810800-146812800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr5:146810800-146813400	Enhancers	Ovary	ovary
30	chr5:146810800-146814200	Enhancers	Fetal Intestine Large	intestine
31	chr5:146810800-146817600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:146810800-146819400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:146810800-146822600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:146811000-146812400	Enhancers	Fetal Stomach	stomach
35	chr5:146811000-146813200	Genic enhancers	Brain Germinal Matrix	brain
36	chr5:146811200-146812200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:146811200-146812200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:146811200-146812200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:146811200-146812200	Enhancers	Aorta	Aorta
40	chr5:146811200-146812200	Enhancers	Placenta	Placenta
41	chr5:146811200-146812800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:146811200-146813000	Enhancers	Left Ventricle	heart
43	chr5:146811400-146812200	Enhancers	Duodenum Mucosa	Duodenum
44	chr5:146811400-146812400	Enhancers	Right Atrium	heart
45	chr5:146811400-146812400	Enhancers	Right Ventricle	heart
46	chr5:146811400-146813000	Enhancers	Fetal Intestine Small	intestine
47	chr5:146811400-146818800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr5:146811600-146812200	Enhancers	Colonic Mucosa	Colon
49	chr5:146811600-146815400	Weak transcription	Brain Anterior Caudate	brain
50	chr5:146811600-146815400	Weak transcription	Lung	lung

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