Variant report

Variant	rs59172147
Chromosome Location	chr2:54084208-54084209
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54066674..54068928-chr2:54084023..54085837,2	K562	blood:
2	chr2:54084019..54085581-chr2:54090209..54092040,2	K562	blood:

Variant related genes	Relation type
ENSG00000238756	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10180492	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10188834	0.86[EUR][1000 genomes]
rs10199444	0.86[EUR][1000 genomes]
rs10208649	0.86[EUR][1000 genomes]
rs1049894	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11125517	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11886024	0.89[EUR][1000 genomes]
rs11890472	0.81[EUR][1000 genomes]
rs11891000	0.81[EUR][1000 genomes]
rs11894028	0.83[EUR][1000 genomes]
rs13387291	0.88[EUR][1000 genomes]
rs13389673	0.89[EUR][1000 genomes]
rs13402778	0.88[EUR][1000 genomes]
rs13417051	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13432387	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17045242	0.88[EUR][1000 genomes]
rs2177791	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2177792	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28699646	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41536750	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60769690	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6545367	0.88[EUR][1000 genomes]
rs6545369	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6545372	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6712561	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6731217	0.89[EUR][1000 genomes]
rs6731911	0.89[EUR][1000 genomes]
rs6740063	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6745729	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6756424	0.88[EUR][1000 genomes]
rs6759437	0.83[EUR][1000 genomes]
rs6761648	0.81[EUR][1000 genomes]
rs72902931	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73937421	1.00[EUR][1000 genomes]
rs7560575	0.89[EUR][1000 genomes]
rs7565152	0.95[EUR][1000 genomes]
rs7594327	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7599335	0.89[EUR][1000 genomes]
rs7608085	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7608989	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9309251	0.89[EUR][1000 genomes]

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54025800-54085600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:54074800-54096600	Weak transcription	Hela-S3	cervix
3	chr2:54077000-54085800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:54078600-54086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:54078600-54092200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:54078800-54092400	Weak transcription	K562	blood
7	chr2:54079000-54091800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:54079200-54086800	Weak transcription	Colonic Mucosa	Colon
9	chr2:54079400-54086200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:54079600-54086400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:54079600-54090600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:54080200-54086800	Weak transcription	Right Atrium	heart
13	chr2:54080400-54086000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:54081200-54091800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:54081600-54086200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:54081600-54086800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:54081600-54087000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:54081600-54090600	Weak transcription	HUVEC	blood vessel
19	chr2:54081600-54091200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:54081600-54091600	Weak transcription	HSMMtube	muscle
21	chr2:54081800-54085400	Weak transcription	Liver	Liver
22	chr2:54081800-54085600	Weak transcription	Fetal Brain Female	brain
23	chr2:54081800-54086200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:54081800-54086400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:54081800-54086400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:54081800-54086400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:54081800-54086400	Weak transcription	Esophagus	oesophagus
28	chr2:54081800-54086400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:54081800-54086800	Weak transcription	Gastric	stomach
30	chr2:54081800-54086800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:54081800-54086800	Weak transcription	Right Ventricle	heart
32	chr2:54081800-54087000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:54081800-54087400	Weak transcription	A549	lung
34	chr2:54081800-54087600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:54081800-54087800	Weak transcription	HSMM	muscle
36	chr2:54081800-54090000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr2:54081800-54090200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:54081800-54092200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:54081800-54094400	Weak transcription	Small Intestine	intestine
40	chr2:54082000-54085200	Weak transcription	Brain Germinal Matrix	brain
41	chr2:54082000-54085400	Weak transcription	Fetal Brain Male	brain
42	chr2:54082000-54085800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:54082000-54086200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:54082000-54086200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:54082000-54086200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:54082000-54086200	Weak transcription	Fetal Intestine Large	intestine
47	chr2:54082000-54086200	Weak transcription	Fetal Intestine Small	intestine
48	chr2:54082000-54086200	Weak transcription	Thymus	Thymus
49	chr2:54082000-54086400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:54082000-54086400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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