Variant report

Variant	rs312915
Chromosome Location	chr2:172573814-172573815
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	chr2:172568856..172572194-chr2:172572515..172575920,3	K562	blood:

Variant related genes	Relation type
ENSG00000077380	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10184770	0.84[AFR][1000 genomes]
rs10185633	0.87[AFR][1000 genomes]
rs10201520	0.84[AFR][1000 genomes]
rs10930493	0.84[AFR][1000 genomes]
rs13012103	0.81[AFR][1000 genomes]
rs1515812	0.87[AFR][1000 genomes]
rs1517678	0.83[AFR][1000 genomes]
rs1543168	0.83[AFR][1000 genomes]
rs1554165	0.86[AFR][1000 genomes]
rs1607253	0.81[AFR][1000 genomes]
rs16859721	0.86[AFR][1000 genomes]
rs1850031	0.87[AFR][1000 genomes]
rs2037164	0.85[AFR][1000 genomes]
rs2292814	0.84[AFR][1000 genomes]
rs312917	0.85[AFR][1000 genomes]
rs58565148	0.86[AFR][1000 genomes]
rs59414074	0.85[AFR][1000 genomes]
rs7574711	0.84[AFR][1000 genomes]
rs7588351	0.84[AFR][1000 genomes]
rs9287948	0.84[AFR][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	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172545000-172580200	Weak transcription	Pancreas	Pancrea
2	chr2:172545000-172580400	Weak transcription	Spleen	Spleen
3	chr2:172545000-172580800	Weak transcription	Gastric	stomach
4	chr2:172545200-172611200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:172545400-172588000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:172545800-172575400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:172545800-172588000	Weak transcription	Right Ventricle	heart
8	chr2:172546400-172574600	Weak transcription	Right Atrium	heart
9	chr2:172546600-172602800	Weak transcription	Small Intestine	intestine
10	chr2:172547000-172578600	Weak transcription	Fetal Brain Male	brain
11	chr2:172548400-172579600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:172551600-172584400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:172552200-172587600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:172554000-172580200	Weak transcription	Aorta	Aorta
15	chr2:172554400-172588000	Weak transcription	Esophagus	oesophagus
16	chr2:172554800-172580400	Weak transcription	K562	blood
17	chr2:172555000-172580200	Weak transcription	Brain Anterior Caudate	brain
18	chr2:172557400-172584400	Weak transcription	Ovary	ovary
19	chr2:172558000-172574600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:172558800-172583400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:172559000-172585000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:172559600-172605200	Weak transcription	Colonic Mucosa	Colon
23	chr2:172560000-172574400	Weak transcription	Lung	lung
24	chr2:172560000-172576200	Weak transcription	Thymus	Thymus
25	chr2:172560400-172580800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:172561000-172579600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:172561000-172583600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:172561200-172580200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:172561200-172587800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:172561400-172580200	Weak transcription	Brain Substantia Nigra	brain
31	chr2:172561400-172601800	Weak transcription	Fetal Heart	heart
32	chr2:172563200-172574400	Weak transcription	Primary T cells from cord blood	blood
33	chr2:172563200-172575200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:172563200-172583000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:172563800-172583400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:172564200-172610000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr2:172564800-172576800	Weak transcription	Brain Germinal Matrix	brain
38	chr2:172565400-172574000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:172566600-172574400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:172567000-172584200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:172567600-172574400	Weak transcription	Left Ventricle	heart
42	chr2:172569000-172584200	Weak transcription	Dnd41	blood
43	chr2:172569000-172618600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:172569200-172578400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:172569200-172579600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:172569200-172582400	Weak transcription	A549	lung
47	chr2:172569200-172583400	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:172569200-172583600	Weak transcription	Hela-S3	cervix
49	chr2:172569400-172580400	Weak transcription	NHLF	lung
50	chr2:172569600-172580400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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