Variant report

Variant	rs61640559
Chromosome Location	chr12:39286543-39286544
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	chr12:39285246..39287445-chr12:39289748..39291988,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12320497	1.00[AMR][1000 genomes]
rs59418360	1.00[AFR][1000 genomes];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:38 , 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	chr12:39284200-39289600	Weak transcription	Adipose Nuclei	Adipose
5	chr12:39284600-39289200	Weak transcription	HUVEC	blood vessel
6	chr12:39284800-39288800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:39285000-39291800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:39285000-39296400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:39285400-39286800	Enhancers	Fetal Intestine Large	intestine
10	chr12:39285600-39286800	Flanking Active TSS	A549	lung
11	chr12:39285600-39287200	Enhancers	HepG2	liver
12	chr12:39285600-39287400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:39285600-39288000	Enhancers	Fetal Intestine Small	intestine
14	chr12:39285800-39286600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:39285800-39286600	Flanking Active TSS	Liver	Liver
16	chr12:39285800-39286600	Flanking Active TSS	Hela-S3	cervix
17	chr12:39285800-39286800	Enhancers	Placenta	Placenta
18	chr12:39285800-39287400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:39285800-39288000	Enhancers	Stomach Mucosa	stomach
20	chr12:39285800-39288600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:39286000-39286600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr12:39286000-39286600	Enhancers	Colon Smooth Muscle	Colon
23	chr12:39286000-39286600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr12:39286000-39286600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr12:39286000-39294600	Weak transcription	Lung	lung
26	chr12:39286200-39291800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:39286200-39291800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:39286200-39291800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:39286400-39286600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:39286400-39286600	Weak transcription	GM12878-XiMat	blood
31	chr12:39286400-39286800	Weak transcription	Pancreas	Pancrea
32	chr12:39286400-39288200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:39286400-39289400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:39286400-39290000	Weak transcription	NHEK	skin
35	chr12:39286400-39290200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:39286400-39290200	Weak transcription	Right Atrium	heart
37	chr12:39286400-39290200	Weak transcription	HMEC	breast
38	chr12:39286400-39293600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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