Variant report

Variant	rs12315986
Chromosome Location	chr12:39285880-39285881
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39285246..39287445-chr12:39289748..39291988,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1095579	1.00[AMR][1000 genomes]
rs12301491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304541	1.00[YRI][hapmap]
rs12305985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322553	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1486344	1.00[AMR][1000 genomes]
rs826875	1.00[AMR][1000 genomes]
rs861161	1.00[AMR][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:44 , 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	chr12:39277800-39287200	Weak transcription	Aorta	Aorta
3	chr12:39280400-39287200	Weak transcription	Colonic Mucosa	Colon
4	chr12:39281000-39286000	Weak transcription	Gastric	stomach
5	chr12:39284200-39289600	Weak transcription	Adipose Nuclei	Adipose
6	chr12:39284600-39286000	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:39284600-39286000	Weak transcription	NHEK	skin
8	chr12:39284600-39289200	Weak transcription	HUVEC	blood vessel
9	chr12:39284800-39286000	Enhancers	Lung	lung
10	chr12:39284800-39286400	Enhancers	Right Atrium	heart
11	chr12:39284800-39288800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:39285000-39286400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:39285000-39291800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:39285000-39296400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:39285400-39286800	Enhancers	Fetal Intestine Large	intestine
16	chr12:39285600-39286000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr12:39285600-39286200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr12:39285600-39286800	Flanking Active TSS	A549	lung
19	chr12:39285600-39287200	Enhancers	HepG2	liver
20	chr12:39285600-39287400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:39285600-39288000	Enhancers	Fetal Intestine Small	intestine
22	chr12:39285800-39286000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr12:39285800-39286000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr12:39285800-39286200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:39285800-39286200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:39285800-39286200	Enhancers	Esophagus	oesophagus
27	chr12:39285800-39286200	Enhancers	Left Ventricle	heart
28	chr12:39285800-39286400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:39285800-39286400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:39285800-39286400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr12:39285800-39286400	Enhancers	Pancreas	Pancrea
32	chr12:39285800-39286400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr12:39285800-39286400	ZNF genes & repeats	GM12878-XiMat	blood
34	chr12:39285800-39286400	Enhancers	HMEC	breast
35	chr12:39285800-39286400	Enhancers	K562	blood
36	chr12:39285800-39286400	Enhancers	NHLF	lung
37	chr12:39285800-39286400	Enhancers	Osteobl	bone
38	chr12:39285800-39286600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:39285800-39286600	Flanking Active TSS	Liver	Liver
40	chr12:39285800-39286600	Flanking Active TSS	Hela-S3	cervix
41	chr12:39285800-39286800	Enhancers	Placenta	Placenta
42	chr12:39285800-39287400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:39285800-39288000	Enhancers	Stomach Mucosa	stomach
44	chr12:39285800-39288600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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