Variant report

Variant	rs73915902
Chromosome Location	chr2:12146418-12146419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr2:12146000-12146446	GM12878	blood:	n/a	n/a
2	BATF	chr2:12146062-12146423	GM12878	blood:	n/a	n/a
3	ATF1	chr2:12146128-12146418	K562	blood:	n/a	n/a
4	BCL11A	chr2:12146004-12146444	GM12878	blood:	n/a	chr2:12146195-12146204
5	POU2F2	chr2:12145956-12146501	GM12878	blood:	n/a	n/a
6	RELA	chr2:12146006-12146439	GM19193	blood:	n/a	n/a
7	MAZ	chr2:12145979-12146680	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:12145977-12146435	U87	brain:	n/a	n/a
9	BCL11A	chr2:12145949-12146457	GM12878	blood:	n/a	chr2:12146195-12146204
10	PAX5	chr2:12146117-12146451	GM12878	blood:	n/a	n/a
11	EP300	chr2:12145724-12146769	GM12878	blood:	n/a	n/a
12	POU2F2	chr2:12145982-12146423	GM12878	blood:	n/a	n/a
13	MEF2A	chr2:12145954-12146470	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:12146077-12146448	GM12878	blood:	n/a	n/a
15	NFIC	chr2:12145828-12146487	GM12878	blood:	n/a	n/a
16	PAX5	chr2:12145986-12146579	GM12878	blood:	n/a	n/a
17	FOXM1	chr2:12145937-12146466	GM12878	blood:	n/a	n/a
18	RCOR1	chr2:12146161-12146747	K562	blood:	n/a	n/a
19	EP300	chr2:12146019-12146624	GM12878	blood:	n/a	n/a
20	TEAD4	chr2:12145944-12146684	K562	blood:	n/a	n/a
21	ATF2	chr2:12145859-12146480	GM12878	blood:	n/a	n/a
22	RELA	chr2:12146006-12146493	GM19099	blood:	n/a	n/a
23	NFIC	chr2:12145894-12146586	ECC-1	luminal epithelium:	n/a	n/a
24	TBL1XR1	chr2:12145763-12146847	GM12878	blood:	n/a	n/a
25	MTA3	chr2:12145883-12146594	GM12878	blood:	n/a	n/a
26	FOXM1	chr2:12145902-12146653	GM12878	blood:	n/a	n/a
27	IRF4	chr2:12145978-12146471	GM12878	blood:	n/a	n/a
28	RELA	chr2:12146024-12146426	GM10847	blood:	n/a	n/a
29	MEF2A	chr2:12145876-12146460	GM12878	blood:	n/a	n/a
30	RUNX3	chr2:12145834-12146640	GM12878	blood:	n/a	n/a
31	NFIC	chr2:12145915-12146508	GM12878	blood:	n/a	n/a
32	NFIC	chr2:12145989-12146531	ECC-1	luminal epithelium:	n/a	n/a
33	EP300	chr2:12145755-12146563	GM12878	blood:	n/a	n/a
34	CHD2	chr2:12146026-12146436	GM12878	blood:	n/a	n/a
35	MEF2C	chr2:12145997-12146499	GM12878	blood:	n/a	n/a
36	RELA	chr2:12146020-12146660	GM15510	blood:	n/a	n/a
37	RCOR1	chr2:12146032-12146647	GM12878	blood:	n/a	n/a
38	WRNIP1	chr2:12146118-12146679	GM12878	blood:	n/a	n/a
39	RUNX3	chr2:12145804-12146692	GM12878	blood:	n/a	n/a
40	RELA	chr2:12146010-12146538	GM12891	blood:	n/a	n/a
41	NFATC1	chr2:12145958-12146449	GM12878	blood:	n/a	n/a
42	RELA	chr2:12146008-12146444	GM18951	blood:	n/a	n/a
43	ZNF143	chr2:12145909-12146652	GM12878	blood:	n/a	n/a
44	IKZF1	chr2:12146049-12146563	GM12878	blood:	n/a	n/a
45	BCLAF1	chr2:12145923-12146460	GM12878	blood:	n/a	chr2:12146195-12146204
46	RELA	chr2:12145752-12146590	GM12878	blood:	n/a	n/a
47	RELA	chr2:12145734-12146778	GM18505	blood:	n/a	n/a
48	BHLHE40	chr2:12146017-12146480	GM12878	blood:	n/a	n/a
49	STAT5A	chr2:12145934-12146439	GM12878	blood:	n/a	n/a
50	EBF1	chr2:12145989-12146534	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:12107920..12110681-chr2:12144590..12147172,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224184	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12463701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12469736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12472165	1.00[ASN][1000 genomes]
rs12475585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478633	1.00[ASN][1000 genomes]
rs12478664	1.00[ASN][1000 genomes]
rs12478705	1.00[ASN][1000 genomes]
rs12991902	1.00[ASN][1000 genomes]
rs28420399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34506780	1.00[ASN][1000 genomes]
rs34819724	1.00[ASN][1000 genomes]
rs34900642	1.00[ASN][1000 genomes]
rs35954069	1.00[ASN][1000 genomes]
rs41378155	1.00[ASN][1000 genomes]
rs56260961	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58143595	1.00[ASN][1000 genomes]
rs59609793	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60195725	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60510807	1.00[ASN][1000 genomes]
rs60873627	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708806	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715248	1.00[ASN][1000 genomes]
rs6715988	1.00[ASN][1000 genomes]
rs71446438	1.00[ASN][1000 genomes]
rs73915889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918410	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918411	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918413	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73918415	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918416	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918422	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918423	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918424	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918425	1.00[AMR][1000 genomes]
rs73918426	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918427	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918432	1.00[AMR][1000 genomes];0.83[EUR][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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12137200-12148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:12141400-12147200	Weak transcription	K562	blood
3	chr2:12144600-12147200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:12144800-12147000	Enhancers	Primary T cells from cord blood	blood
5	chr2:12145000-12146800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:12145000-12147200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:12145000-12147200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:12145000-12147400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:12145000-12147400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:12145000-12147600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:12145000-12149800	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:12145200-12146800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:12145200-12147000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:12145200-12147200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:12145200-12147600	Enhancers	HUVEC	blood vessel
16	chr2:12145400-12146600	Flanking Active TSS	GM12878-XiMat	blood
17	chr2:12145400-12146800	Enhancers	Primary B cells from cord blood	blood
18	chr2:12145400-12146800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:12145400-12147000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr2:12145400-12147800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:12145600-12146800	Enhancers	Esophagus	oesophagus
22	chr2:12145600-12146800	Enhancers	Fetal Thymus	thymus
23	chr2:12145600-12147000	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:12145600-12147200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:12145600-12147400	Enhancers	Fetal Lung	lung
26	chr2:12145600-12147400	Enhancers	Fetal Muscle Leg	muscle
27	chr2:12145600-12147600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:12145600-12147600	Enhancers	NH-A	brain
29	chr2:12145600-12147800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:12145600-12147800	Enhancers	HSMM	muscle
31	chr2:12145800-12146600	Enhancers	Brain Germinal Matrix	brain
32	chr2:12145800-12146600	Enhancers	Fetal Brain Female	brain
33	chr2:12145800-12146600	Enhancers	HSMMtube	muscle
34	chr2:12145800-12147400	Enhancers	Fetal Heart	heart
35	chr2:12145800-12147400	Enhancers	HMEC	breast
36	chr2:12145800-12147400	Enhancers	Osteobl	bone
37	chr2:12145800-12148000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:12145800-12148000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:12146000-12146800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:12146000-12147400	Enhancers	Fetal Stomach	stomach
41	chr2:12146000-12147600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:12146000-12148000	Enhancers	Liver	Liver
43	chr2:12146200-12146600	Flanking Active TSS	Dnd41	blood
44	chr2:12146200-12146800	Enhancers	Stomach Smooth Muscle	stomach
45	chr2:12146200-12147200	Enhancers	NHEK	skin
46	chr2:12146200-12147400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:12146200-12147600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:12146200-12147600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr2:12146200-12147600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr2:12146200-12147800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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