Variant report

Variant	rs62139712
Chromosome Location	chr2:47638309-47638310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47629127..47633202-chr2:47637994..47643182,6	K562	blood:
2	chr2:47635783..47639666-chr2:47641286..47645571,5	K562	blood:

Variant related genes	Relation type
ENSG00000095002	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10514805	0.81[EUR][1000 genomes]
rs17036577	0.81[EUR][1000 genomes]
rs17217940	0.88[EUR][1000 genomes]
rs17217989	0.91[EUR][1000 genomes]
rs17218006	0.85[AMR][1000 genomes]
rs58064086	0.81[EUR][1000 genomes]
rs62139719	0.88[EUR][1000 genomes]
rs62139725	0.81[EUR][1000 genomes]
rs62140863	0.81[EUR][1000 genomes]
rs62140864	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47631200-47642000	Weak transcription	Aorta	Aorta
2	chr2:47631400-47657400	Weak transcription	HSMMtube	muscle
3	chr2:47631400-47697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:47631400-47714400	Weak transcription	Right Ventricle	heart
5	chr2:47631600-47638600	Weak transcription	Gastric	stomach
6	chr2:47631600-47639400	Weak transcription	Liver	Liver
7	chr2:47631600-47657400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:47631800-47638400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:47631800-47638600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:47631800-47638600	Weak transcription	Placenta	Placenta
11	chr2:47631800-47638800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:47631800-47638800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:47631800-47638800	Weak transcription	Ovary	ovary
14	chr2:47631800-47638800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:47631800-47639000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:47631800-47639000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:47631800-47639200	Weak transcription	Fetal Kidney	kidney
18	chr2:47631800-47639200	Weak transcription	Left Ventricle	heart
19	chr2:47631800-47639600	Weak transcription	HUVEC	blood vessel
20	chr2:47631800-47640400	Weak transcription	Brain Substantia Nigra	brain
21	chr2:47631800-47640800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:47631800-47640800	Weak transcription	NH-A	brain
23	chr2:47631800-47641000	Weak transcription	HMEC	breast
24	chr2:47631800-47642000	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:47631800-47642000	Weak transcription	Spleen	Spleen
26	chr2:47631800-47642600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:47631800-47643000	Weak transcription	NHDF-Ad	bronchial
28	chr2:47631800-47643200	Weak transcription	HSMM	muscle
29	chr2:47631800-47643400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:47631800-47643400	Weak transcription	Fetal Heart	heart
31	chr2:47631800-47643800	Weak transcription	Osteobl	bone
32	chr2:47631800-47646000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:47631800-47647400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:47631800-47649000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:47631800-47649200	Weak transcription	NHEK	skin
36	chr2:47631800-47650000	Weak transcription	NHLF	lung
37	chr2:47631800-47657000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:47631800-47657400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:47631800-47657400	Weak transcription	Brain Angular Gyrus	brain
40	chr2:47631800-47657400	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:47631800-47657400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:47631800-47657400	Weak transcription	Small Intestine	intestine
43	chr2:47631800-47657600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:47631800-47659400	Weak transcription	Right Atrium	heart
45	chr2:47631800-47672000	Weak transcription	Pancreas	Pancrea
46	chr2:47631800-47696600	Weak transcription	Esophagus	oesophagus
47	chr2:47631800-47700000	Weak transcription	Colonic Mucosa	Colon
48	chr2:47631800-47704200	Weak transcription	Psoas Muscle	Psoas
49	chr2:47632000-47638600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:47632000-47643200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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