Variant report

Variant	rs72954522
Chromosome Location	chr2:114736726-114736727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:114734609-114736884	HepG2	liver:	n/a	n/a
2	MYBL2	chr2:114734478-114738477	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:114735042-114736758	HepG2	liver:	n/a	chr2:114735799-114735810
4	TEAD4	chr2:114734792-114736870	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:114736378-114736830	HepG2	liver:	n/a	n/a
6	FOSL2	chr2:114734637-114736836	HepG2	liver:	n/a	chr2:114735695-114735704 chr2:114735694-114735706 chr2:114735697-114735704 chr2:114735971-114735982 chr2:114735696-114735704
7	POLR2A	chr2:114734270-114737182	HepG2	liver:	n/a	n/a
8	CREB1	chr2:114734601-114737261	HepG2	liver:	n/a	n/a
9	HEY1	chr2:114734625-114737653	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:114734646-114736832	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:114735023-114736749	HepG2	liver:	n/a	chr2:114735799-114735810
12	MBD4	chr2:114734503-114736773	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:114735637-114737128	HepG2	liver:	n/a	n/a
14	MBD4	chr2:114734874-114736866	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:114734147-114737194	HepG2	liver:	n/a	n/a
16	MAFF	chr2:114736620-114736726	HepG2	liver:	n/a	n/a
17	HEY1	chr2:114734582-114736932	HepG2	liver:	n/a	n/a
18	MXI1	chr2:114734998-114738201	HepG2	liver:	n/a	n/a
19	JUND	chr2:114736566-114736735	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114727885..114731158-chr2:114732543..114736928,5	K562	blood:
2	chr2:114648039..114650130-chr2:114735368..114736887,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR3-1	chr2:114735195-114737211	NONHSAT073855
2	lnc-SLC35F5-19	chr2:114736482-114737401	NONHSAT073858
3	lnc-ACTR3-1	chr2:114736064-114736831	NONHSAT073854

Variant related genes	Relation type
ENSG00000234199	TF binding region
ENSG00000243179	TF binding region
ENSG00000115091	Chromatin interaction

rs_ID	r²[population]
rs10176845	1.00[EUR][1000 genomes]
rs10187400	1.00[EUR][1000 genomes]
rs10496457	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11889509	1.00[EUR][1000 genomes]
rs11889598	1.00[EUR][1000 genomes]
rs11891411	1.00[EUR][1000 genomes]
rs11891462	1.00[EUR][1000 genomes]
rs11894827	1.00[EUR][1000 genomes]
rs11895599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12105197	1.00[EUR][1000 genomes]
rs13384052	1.00[EUR][1000 genomes]
rs17045715	1.00[EUR][1000 genomes]
rs17045864	1.00[EUR][1000 genomes]
rs17046832	1.00[EUR][1000 genomes]
rs55641866	1.00[EUR][1000 genomes]
rs55871409	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55898668	1.00[EUR][1000 genomes]
rs55926723	1.00[EUR][1000 genomes]
rs55952342	1.00[EUR][1000 genomes]
rs55959179	1.00[EUR][1000 genomes]
rs55969528	1.00[EUR][1000 genomes]
rs56235472	1.00[EUR][1000 genomes]
rs57250836	1.00[EUR][1000 genomes]
rs57443397	1.00[EUR][1000 genomes]
rs58242493	1.00[EUR][1000 genomes]
rs58556274	1.00[EUR][1000 genomes]
rs59403353	1.00[EUR][1000 genomes]
rs59858371	1.00[EUR][1000 genomes]
rs60313988	1.00[EUR][1000 genomes]
rs60798508	1.00[EUR][1000 genomes]
rs60967736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61113571	1.00[EUR][1000 genomes]
rs61179082	1.00[EUR][1000 genomes]
rs61516254	1.00[EUR][1000 genomes]
rs61704468	1.00[EUR][1000 genomes]
rs6743688	1.00[EUR][1000 genomes]
rs72948697	1.00[EUR][1000 genomes]
rs72954542	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72954545	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72954552	1.00[EUR][1000 genomes]
rs72954575	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73955093	1.00[EUR][1000 genomes]
rs73955096	1.00[EUR][1000 genomes]
rs73955101	1.00[EUR][1000 genomes]
rs73955102	1.00[EUR][1000 genomes]
rs73955460	1.00[EUR][1000 genomes]
rs73955469	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73957403	1.00[EUR][1000 genomes]
rs73957404	1.00[EUR][1000 genomes]
rs73957406	1.00[EUR][1000 genomes]
rs73957408	1.00[EUR][1000 genomes]
rs73957425	1.00[EUR][1000 genomes]
rs73957426	1.00[EUR][1000 genomes]
rs73957431	1.00[EUR][1000 genomes]
rs73957432	1.00[EUR][1000 genomes]
rs73957433	1.00[EUR][1000 genomes]

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114705200-114737600	Weak transcription	Esophagus	oesophagus
2	chr2:114715000-114744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:114715600-114737000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:114718800-114743200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:114727600-114736800	Weak transcription	A549	lung
6	chr2:114729600-114737000	Weak transcription	Placenta	Placenta
7	chr2:114732400-114737400	Weak transcription	Lung	lung
8	chr2:114733400-114737400	Weak transcription	GM12878-XiMat	blood
9	chr2:114733400-114741200	Weak transcription	Liver	Liver
10	chr2:114733400-114743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:114733800-114736800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:114733800-114741600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:114734000-114736800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:114734000-114737200	Enhancers	HMEC	breast
15	chr2:114734000-114737800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:114734000-114738000	Enhancers	Pancreas	Pancrea
17	chr2:114734000-114746000	Weak transcription	Aorta	Aorta
18	chr2:114734000-114751800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:114734200-114736800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:114734200-114737000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:114734200-114737800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:114734400-114749800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr2:114734600-114736800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:114734600-114738200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:114734800-114741800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:114734800-114742400	Weak transcription	Primary B cells from cord blood	blood
27	chr2:114734800-114744000	Weak transcription	Primary T cells from cord blood	blood
28	chr2:114735000-114736800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:114735000-114736800	Enhancers	Fetal Intestine Small	intestine
30	chr2:114735000-114737400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:114735200-114736800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:114735200-114737200	Weak transcription	Thymus	Thymus
33	chr2:114735200-114737400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:114735400-114736800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:114736000-114737200	Flanking Active TSS	HepG2	liver
36	chr2:114736000-114737600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:114736000-114737600	Weak transcription	Osteobl	bone
38	chr2:114736000-114737800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:114736000-114738200	Weak transcription	NHDF-Ad	bronchial
40	chr2:114736000-114742600	Weak transcription	NHLF	lung
41	chr2:114736200-114736800	Enhancers	NHEK	skin
42	chr2:114736200-114737600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:114736200-114738600	Weak transcription	HUVEC	blood vessel
44	chr2:114736200-114740200	Weak transcription	HSMM	muscle
45	chr2:114736200-114741200	Weak transcription	Gastric	stomach
46	chr2:114736200-114761000	Weak transcription	HSMMtube	muscle
47	chr2:114736400-114737000	Strong transcription	Spleen	Spleen
48	chr2:114736400-114737800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:114736400-114737800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:114736600-114737400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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