Variant report

Variant	rs73086073
Chromosome Location	chr12:39290774-39290775
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39285246..39287445-chr12:39289748..39291988,2	K562	blood:
2	chr12:39268478..39271402-chr12:39288578..39290820,2	K562	blood:
3	chr12:39290114..39292966-chr12:39295688..39297919,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11833356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12422883	0.91[AFR][1000 genomes]
rs12425783	0.91[AFR][1000 genomes]
rs12427196	0.94[AFR][1000 genomes]
rs58235891	0.91[AFR][1000 genomes]
rs60409162	0.91[AFR][1000 genomes]
rs73084040	0.91[AFR][1000 genomes]
rs73084092	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73086062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73086069	1.00[EUR][1000 genomes]
rs73089546	1.00[EUR][1000 genomes]
rs73089548	1.00[EUR][1000 genomes]
rs73089574	0.91[AFR][1000 genomes]
rs73099111	1.00[EUR][1000 genomes]
rs73099152	1.00[EUR][1000 genomes]
rs73099166	1.00[EUR][1000 genomes]
rs73099178	1.00[EUR][1000 genomes]
rs73107159	1.00[EUR][1000 genomes]
rs73107183	1.00[EUR][1000 genomes]
rs73107196	1.00[EUR][1000 genomes]
rs73107199	1.00[EUR][1000 genomes]
rs73109203	1.00[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	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
3	nsv899009	chr12:39284077-39441096	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39271800-39297200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:39285000-39291800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:39285000-39296400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:39286000-39294600	Weak transcription	Lung	lung
5	chr12:39286200-39291800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:39286200-39291800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:39286200-39291800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:39286400-39293600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:39286600-39297400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:39287200-39291800	Weak transcription	A549	lung
11	chr12:39287400-39291600	Weak transcription	Placenta	Placenta
12	chr12:39287400-39291800	Weak transcription	Hela-S3	cervix
13	chr12:39287400-39296400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:39287400-39298600	Weak transcription	Aorta	Aorta
15	chr12:39288000-39296600	Weak transcription	Liver	Liver
16	chr12:39288400-39291000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:39289600-39292000	Weak transcription	GM12878-XiMat	blood
18	chr12:39289600-39297000	Weak transcription	HUVEC	blood vessel
19	chr12:39289800-39291600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:39290000-39290800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr12:39290000-39290800	Enhancers	NHEK	skin
22	chr12:39290000-39291000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:39290000-39291200	Enhancers	Colon Smooth Muscle	Colon
24	chr12:39290200-39291200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:39290200-39291800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:39290200-39297600	Weak transcription	Adipose Nuclei	Adipose
27	chr12:39290400-39290800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr12:39290400-39293000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:39290400-39296200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:39290600-39291600	Weak transcription	HMEC	breast
31	chr12:39290600-39291800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:39290600-39291800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:39290600-39297000	Weak transcription	Right Atrium	heart

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