Variant report

Variant	rs73181425
Chromosome Location	chr2:12146301-12146302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:12146025-12146329	K562	blood:	n/a	n/a
2	SP1	chr2:12146000-12146446	GM12878	blood:	n/a	n/a
3	BATF	chr2:12146062-12146423	GM12878	blood:	n/a	n/a
4	ATF1	chr2:12146128-12146418	K562	blood:	n/a	n/a
5	BCL3	chr2:12146016-12146408	GM12878	blood:	n/a	chr2:12146195-12146204
6	BCL11A	chr2:12146004-12146444	GM12878	blood:	n/a	chr2:12146195-12146204
7	POU2F2	chr2:12145956-12146501	GM12878	blood:	n/a	n/a
8	RELA	chr2:12146006-12146439	GM19193	blood:	n/a	n/a
9	MAZ	chr2:12145979-12146680	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:12145977-12146435	U87	brain:	n/a	n/a
11	POLR2A	chr2:12146006-12146375	U87	brain:	n/a	n/a
12	BCL11A	chr2:12145949-12146457	GM12878	blood:	n/a	chr2:12146195-12146204
13	EBF1	chr2:12145968-12146410	GM12878	blood:	n/a	n/a
14	PAX5	chr2:12146117-12146451	GM12878	blood:	n/a	n/a
15	JUND	chr2:12146113-12146321	K562	blood:	n/a	n/a
16	EP300	chr2:12145724-12146769	GM12878	blood:	n/a	n/a
17	POU2F2	chr2:12145982-12146423	GM12878	blood:	n/a	n/a
18	MEF2A	chr2:12145954-12146470	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:12146077-12146448	GM12878	blood:	n/a	n/a
20	NFIC	chr2:12145828-12146487	GM12878	blood:	n/a	n/a
21	FOS	chr2:12146068-12146344	MCF10A-Er-Src	breast:	n/a	n/a
22	ATF2	chr2:12145954-12146412	GM12878	blood:	n/a	n/a
23	PAX5	chr2:12145986-12146579	GM12878	blood:	n/a	n/a
24	MYC	chr2:12145964-12146372	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr2:12146028-12146359	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr2:12146035-12146389	GM12878	blood:	n/a	n/a
27	FOXM1	chr2:12145937-12146466	GM12878	blood:	n/a	n/a
28	RCOR1	chr2:12146161-12146747	K562	blood:	n/a	n/a
29	EP300	chr2:12146019-12146624	GM12878	blood:	n/a	n/a
30	FOS	chr2:12146093-12146365	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT1	chr2:12146093-12146388	GM12878	blood:	n/a	n/a
32	TEAD4	chr2:12145944-12146684	K562	blood:	n/a	n/a
33	STAT3	chr2:12146104-12146354	MCF10A-Er-Src	breast:	n/a	n/a
34	ATF2	chr2:12145859-12146480	GM12878	blood:	n/a	n/a
35	POU2F2	chr2:12146074-12146386	GM12891	blood:	n/a	n/a
36	RELA	chr2:12146006-12146493	GM19099	blood:	n/a	n/a
37	NFIC	chr2:12145894-12146586	ECC-1	luminal epithelium:	n/a	n/a
38	BHLHE40	chr2:12146158-12146358	K562	blood:	n/a	n/a
39	POU2F2	chr2:12146061-12146305	GM12878	blood:	n/a	n/a
40	TBL1XR1	chr2:12145763-12146847	GM12878	blood:	n/a	n/a
41	MTA3	chr2:12145883-12146594	GM12878	blood:	n/a	n/a
42	FOXM1	chr2:12145902-12146653	GM12878	blood:	n/a	n/a
43	IRF4	chr2:12145978-12146471	GM12878	blood:	n/a	n/a
44	YY1	chr2:12146051-12146416	GM12878	blood:	n/a	n/a
45	RELA	chr2:12146024-12146426	GM10847	blood:	n/a	n/a
46	TCF12	chr2:12146089-12146349	GM12878	blood:	n/a	n/a
47	YY1	chr2:12146078-12146358	GM12878	blood:	n/a	n/a
48	STAT3	chr2:12146109-12146417	MCF10A-Er-Src	breast:	n/a	n/a
49	PAX5	chr2:12146068-12146404	GM12891	blood:	n/a	n/a
50	MYC	chr2:12146126-12146354	MCF10A-Er-Src	breast:	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: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1011968	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894474	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896050	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618345	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1371612	0.88[EUR][1000 genomes]
rs61580555	0.87[EUR][1000 genomes]
rs73179844	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][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:58 , 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	chr2:12145400-12146400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:12145400-12146400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:12145400-12146600	Flanking Active TSS	GM12878-XiMat	blood
19	chr2:12145400-12146800	Enhancers	Primary B cells from cord blood	blood
20	chr2:12145400-12146800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:12145400-12147000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:12145400-12147800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:12145600-12146400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:12145600-12146800	Enhancers	Esophagus	oesophagus
25	chr2:12145600-12146800	Enhancers	Fetal Thymus	thymus
26	chr2:12145600-12147000	Enhancers	Primary hematopoietic stem cells	blood
27	chr2:12145600-12147200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:12145600-12147400	Enhancers	Fetal Lung	lung
29	chr2:12145600-12147400	Enhancers	Fetal Muscle Leg	muscle
30	chr2:12145600-12147600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:12145600-12147600	Enhancers	NH-A	brain
32	chr2:12145600-12147800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:12145600-12147800	Enhancers	HSMM	muscle
34	chr2:12145800-12146600	Enhancers	Brain Germinal Matrix	brain
35	chr2:12145800-12146600	Enhancers	Fetal Brain Female	brain
36	chr2:12145800-12146600	Enhancers	HSMMtube	muscle
37	chr2:12145800-12147400	Enhancers	Fetal Heart	heart
38	chr2:12145800-12147400	Enhancers	HMEC	breast
39	chr2:12145800-12147400	Enhancers	Osteobl	bone
40	chr2:12145800-12148000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:12145800-12148000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:12146000-12146400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr2:12146000-12146800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:12146000-12147400	Enhancers	Fetal Stomach	stomach
45	chr2:12146000-12147600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:12146000-12148000	Enhancers	Liver	Liver
47	chr2:12146200-12146400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr2:12146200-12146400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:12146200-12146400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:12146200-12146400	Enhancers	NHLF	lung

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