Variant report

Variant	rs2647908
Chromosome Location	chr12:64461875-64461876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10444577	0.87[ASN][1000 genomes]
rs10878102	0.85[ASN][1000 genomes]
rs11175238	0.85[ASN][1000 genomes]
rs1162788	0.87[ASN][1000 genomes]
rs12228437	0.87[ASN][1000 genomes]
rs1344400	0.86[ASN][1000 genomes]
rs1378778	0.85[ASN][1000 genomes]
rs2168411	0.84[ASN][1000 genomes]
rs28366579	0.87[ASN][1000 genomes]
rs4553444	0.85[ASN][1000 genomes]
rs4763134	0.87[ASN][1000 genomes]
rs6581529	0.82[ASN][1000 genomes]
rs6581530	0.82[ASN][1000 genomes]
rs7963940	0.82[ASN][1000 genomes]
rs7980267	0.83[ASN][1000 genomes]
rs990309	0.87[ASN][1000 genomes]

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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64432000-64466400	Weak transcription	Pancreas	Pancrea
2	chr12:64433600-64474200	Weak transcription	Left Ventricle	heart
3	chr12:64434000-64481600	Weak transcription	HUVEC	blood vessel
4	chr12:64436600-64474200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:64436800-64474200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:64440000-64479200	Weak transcription	Esophagus	oesophagus
7	chr12:64441000-64475000	Weak transcription	Hela-S3	cervix
8	chr12:64445200-64474200	Weak transcription	Fetal Lung	lung
9	chr12:64451200-64476600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:64453000-64465400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:64453000-64476600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:64453400-64467000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:64453600-64472800	Weak transcription	Brain Anterior Caudate	brain
14	chr12:64453800-64473600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:64453800-64476600	Weak transcription	Brain Substantia Nigra	brain
16	chr12:64454800-64476600	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:64455000-64474200	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:64455200-64481600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:64457000-64462600	Weak transcription	Spleen	Spleen
20	chr12:64457000-64510600	Weak transcription	HepG2	liver
21	chr12:64457600-64465200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:64457600-64472600	Weak transcription	Lung	lung
23	chr12:64457800-64474000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:64457800-64474400	Weak transcription	Small Intestine	intestine
25	chr12:64458200-64462000	Strong transcription	A549	lung
26	chr12:64458400-64462000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:64459000-64462200	Weak transcription	Fetal Stomach	stomach
28	chr12:64459000-64469200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:64459000-64472600	Weak transcription	Fetal Intestine Large	intestine
30	chr12:64459000-64472600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:64459000-64474000	Weak transcription	Ovary	ovary
32	chr12:64459000-64476600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:64459000-64479800	Weak transcription	Gastric	stomach
34	chr12:64459200-64474200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:64459400-64466400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:64459800-64468000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:64460000-64462800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:64460200-64463800	Weak transcription	Fetal Brain Male	brain
39	chr12:64460200-64465200	Weak transcription	NHLF	lung
40	chr12:64460200-64465600	Weak transcription	NHEK	skin
41	chr12:64460200-64466000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:64460200-64468000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:64460200-64472800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:64460200-64474000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:64460200-64476600	Weak transcription	Brain Germinal Matrix	brain
46	chr12:64460200-64476800	Weak transcription	Fetal Kidney	kidney
47	chr12:64460400-64464000	Weak transcription	Adipose Nuclei	Adipose
48	chr12:64460400-64466400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr12:64460600-64463800	Strong transcription	Fetal Intestine Small	intestine
50	chr12:64460600-64464200	Weak transcription	Muscle Satellite Cultured Cells	--

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