Variant report

Variant	rs61495985
Chromosome Location	chr12:39281749-39281750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11832454	0.99[AFR][1000 genomes]
rs11834267	0.99[AFR][1000 genomes]
rs11835596	0.95[AFR][1000 genomes]
rs12816599	1.00[ASN][1000 genomes]
rs17126711	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17126734	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17126736	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34024109	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35598213	1.00[ASN][1000 genomes]
rs58174482	0.95[AFR][1000 genomes]
rs60605001	0.99[AFR][1000 genomes]
rs60616247	0.95[AFR][1000 genomes]
rs7971101	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39204000-39284800	Weak transcription	Lung	lung
2	chr12:39239200-39284000	Weak transcription	Hela-S3	cervix
3	chr12:39266400-39283200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:39269800-39285800	Weak transcription	Osteobl	bone
5	chr12:39271800-39297200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:39272600-39284000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:39276400-39283400	Weak transcription	Left Ventricle	heart
8	chr12:39276600-39282800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:39276800-39281800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:39276800-39283800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:39277600-39282000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr12:39277800-39287200	Weak transcription	Aorta	Aorta
13	chr12:39278200-39284400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:39279800-39282800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:39279800-39283200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:39279800-39285800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:39280000-39284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:39280000-39285600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:39280200-39283600	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:39280400-39284000	Weak transcription	HMEC	breast
21	chr12:39280400-39284000	Weak transcription	NHEK	skin
22	chr12:39280400-39287200	Weak transcription	Colonic Mucosa	Colon
23	chr12:39280800-39282200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr12:39280800-39282600	Enhancers	Stomach Mucosa	stomach
25	chr12:39280800-39284000	Weak transcription	A549	lung
26	chr12:39280800-39285800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:39281000-39285800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:39281000-39286000	Weak transcription	Gastric	stomach
29	chr12:39281200-39283400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:39281400-39281800	Weak transcription	Liver	Liver
31	chr12:39281400-39281800	Weak transcription	Right Atrium	heart

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