Variant report

Variant	rs73955093
Chromosome Location	chr2:114604949-114604950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:114604746-114605072	K562	blood:	n/a	n/a
2	MAX	chr2:114604762-114605119	ECC-1	luminal epithelium:	n/a	n/a
3	MYC	chr2:114604734-114604999	K562	blood:	n/a	n/a
4	MAX	chr2:114604740-114605170	K562	blood:	n/a	n/a
5	RUNX3	chr2:114604728-114605187	GM12878	blood:	n/a	n/a
6	FOS	chr2:114604750-114605049	MCF10A-Er-Src	breast:	n/a	n/a
7	PAX5	chr2:114604676-114604998	GM12878	blood:	n/a	n/a
8	RUNX3	chr2:114604791-114605116	GM12878	blood:	n/a	n/a
9	BHLHE40	chr2:114604725-114605157	K562	blood:	n/a	n/a
10	USF1	chr2:114604731-114605178	ECC-1	luminal epithelium:	n/a	n/a
11	BHLHE40	chr2:114604776-114605059	GM12878	blood:	n/a	n/a
12	MYC	chr2:114604746-114605089	K562	blood:	n/a	n/a
13	CBX3	chr2:114604651-114605216	K562	blood:	n/a	n/a
14	JUN	chr2:114604707-114605139	K562	blood:	n/a	n/a
15	USF1	chr2:114604846-114604996	GM12878	blood:	n/a	n/a
16	JUN	chr2:114604466-114606112	K562	blood:	n/a	n/a
17	USF1	chr2:114604756-114605182	ECC-1	luminal epithelium:	n/a	n/a
18	RCOR1	chr2:114604719-114605075	K562	blood:	n/a	n/a
19	USF2	chr2:114604881-114605080	HepG2	liver:	n/a	n/a
20	USF1	chr2:114604741-114605234	SK-N-SH	brain:	n/a	n/a
21	RFX5	chr2:114604728-114605055	HepG2	liver:	n/a	n/a
22	MYC	chr2:114604780-114605084	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr2:114604924-114605006	Gliobla	brain:	n/a	n/a
24	FOS	chr2:114604790-114604993	MCF10A-Er-Src	breast:	n/a	n/a
25	USF1	chr2:114604885-114605120	SK-N-SH_RA	brain:	n/a	n/a
26	MAZ	chr2:114604901-114605081	K562	blood:	n/a	n/a
27	MAX	chr2:114604684-114605160	ECC-1	luminal epithelium:	n/a	n/a
28	NFYB	chr2:114604849-114605105	GM12878	blood:	n/a	n/a
29	USF2	chr2:114604819-114605164	GM12878	blood:	n/a	n/a
30	SETDB1	chr2:114604639-114604969	U2OS	brain:	n/a	n/a
31	USF1	chr2:114604712-114605247	K562	blood:	n/a	n/a
32	JUND	chr2:114604718-114605102	K562	blood:	n/a	n/a
33	BATF	chr2:114604759-114605109	GM12878	blood:	n/a	n/a
34	JUND	chr2:114604763-114605017	HepG2	liver:	n/a	n/a
35	NFYB	chr2:114604889-114605105	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:114604030..114606548-chr2:114644904..114647521,3	K562	blood:
2	chr2:114583209..114585291-chr2:114603367..114605594,2	K562	blood:
3	chr2:114596973..114598913-chr2:114602425..114605423,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228857	TF binding region
ENSG00000270019	Chromatin interaction

rs_ID	r²[population]
rs10176845	1.00[EUR][1000 genomes]
rs10187400	1.00[EUR][1000 genomes]
rs10496457	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	1.00[EUR][1000 genomes]
rs12105197	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];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]
rs17048352	1.00[EUR][1000 genomes]
rs4255968	1.00[EUR][1000 genomes]
rs55641866	1.00[EUR][1000 genomes]
rs55871409	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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];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]
rs60779750	1.00[EUR][1000 genomes]
rs60798508	1.00[EUR][1000 genomes]
rs60896642	1.00[EUR][1000 genomes]
rs60967736	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	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948697	1.00[EUR][1000 genomes]
rs72954522	1.00[EUR][1000 genomes]
rs72954542	1.00[EUR][1000 genomes]
rs72954545	1.00[EUR][1000 genomes]
rs72954552	1.00[EUR][1000 genomes]
rs72954575	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	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114596400-114621000	Weak transcription	Aorta	Aorta
2	chr2:114596600-114611600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:114596800-114632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:114597600-114631400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:114601200-114606200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:114601200-114606800	Weak transcription	NHLF	lung
7	chr2:114601400-114612000	Weak transcription	Primary T cells from cord blood	blood
8	chr2:114601600-114606400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:114601800-114606200	Weak transcription	NHEK	skin
10	chr2:114601800-114606400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:114601800-114606400	Weak transcription	Osteobl	bone
12	chr2:114602800-114626000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:114603600-114607200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:114603800-114608200	Weak transcription	Fetal Lung	lung
15	chr2:114603800-114616000	Weak transcription	Spleen	Spleen
16	chr2:114603800-114631200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:114604000-114605800	Enhancers	NHDF-Ad	bronchial
18	chr2:114604600-114605000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:114604600-114605000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:114604600-114605200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:114604800-114605000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:114604800-114605000	Enhancers	HMEC	breast

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