Variant report

Variant	rs2251215
Chromosome Location	chr12:104301964-104301965
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	POU2F2	chr12:104301173-104301973	GM12891	blood:	n/a	chr12:104301390-104301403 chr12:104301396-104301406 chr12:104301395-104301407 chr12:104301390-104301403 chr12:104301393-104301407 chr12:104301391-104301405 chr12:104301394-104301407 chr12:104301390-104301403 chr12:104301389-104301410 chr12:104301396-104301406 chr12:104301394-104301405 chr12:104301391-104301409 chr12:104301395-104301405
2	POLR2A	chr12:104301832-104301967	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:104301412-104302006	GM12892	blood:	n/a	n/a
4	POLR2A	chr12:104301213-104302168	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:104301137-104302264	GM12891	blood:	n/a	n/a
6	POLR2A	chr12:104301595-104301968	K562	blood:	n/a	n/a
7	POLR2A	chr12:104301315-104302418	GM12892	blood:	n/a	n/a
8	POLR2A	chr12:104301539-104302029	K562	blood:	n/a	n/a
9	POLR2A	chr12:104301355-104301997	GM12891	blood:	n/a	n/a
10	PML	chr12:104301253-104302128	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:104301277-104302096	GM18505	blood:	n/a	n/a
12	POLR2A	chr12:104301353-104302080	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:104301315-104302343	GM12892	blood:	n/a	n/a
14	POLR2A	chr12:104301833-104302067	K562	blood:	n/a	n/a
15	POLR2A	chr12:104301395-104302291	GM12892	blood:	n/a	n/a
16	POLR2A	chr12:104301849-104302016	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:104301500-104301998	GM12891	blood:	n/a	n/a
18	POLR2A	chr12:104301189-104302266	GM12891	blood:	n/a	n/a
19	POLR2A	chr12:104301240-104302222	GM12878	blood:	n/a	n/a
20	MTA3	chr12:104301288-104301972	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:104301515-104301997	K562	blood:	n/a	n/a
22	POU2F2	chr12:104301189-104301978	GM12891	blood:	n/a	chr12:104301390-104301403 chr12:104301396-104301406 chr12:104301395-104301407 chr12:104301390-104301403 chr12:104301393-104301407 chr12:104301391-104301405 chr12:104301394-104301407 chr12:104301390-104301403 chr12:104301389-104301410 chr12:104301396-104301406 chr12:104301394-104301405 chr12:104301391-104301409 chr12:104301395-104301405
23	PML	chr12:104301374-104301975	K562	blood:	n/a	n/a
24	HEY1	chr12:104301486-104302173	K562	blood:	n/a	n/a
25	POLR2A	chr12:104301212-104302240	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104300678..104303599-chr12:104319392..104323559,4	K562	blood:
2	chr12:104300942..104303237-chr12:104305354..104306983,2	K562	blood:
3	chr12:104296301..104298365-chr12:104301480..104303104,2	K562	blood:
4	chr12:104299931..104303136-chr12:104307150..104309681,4	K562	blood:
5	chr12:104301059..104305002-chr12:104308299..104311769,5	K562	blood:
6	chr12:104298858..104303101-chr12:104321689..104325332,4	K562	blood:
7	chr12:104301536..104303979-chr12:104529834..104532594,2	K562	blood:
8	chr12:104296301..104297835-chr12:104301480..104303235,2	K562	blood:
9	chr12:104300652..104303185-chr12:104457889..104460360,2	K562	blood:

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000111727	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000166598	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11111861	1.00[ASN][1000 genomes]
rs1125322	1.00[ASN][1000 genomes]
rs11611650	1.00[ASN][1000 genomes]
rs1165672	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825687	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1385663	1.00[ASN][1000 genomes]
rs167715	1.00[ASN][1000 genomes]
rs167716	1.00[ASN][1000 genomes]
rs1882018	1.00[ASN][1000 genomes]
rs2243680	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2248995	1.00[ASN][1000 genomes]
rs2252213	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2374327	1.00[ASN][1000 genomes]
rs2439621	1.00[ASN][1000 genomes]
rs2576943	1.00[ASN][1000 genomes]
rs2583224	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583225	1.00[ASN][1000 genomes]
rs2583233	1.00[ASN][1000 genomes]
rs2583234	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583237	1.00[ASN][1000 genomes]
rs2583244	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2583258	1.00[ASN][1000 genomes]
rs2583274	1.00[ASN][1000 genomes]
rs2583278	1.00[ASN][1000 genomes]
rs2629750	1.00[ASN][1000 genomes]
rs2700494	1.00[ASN][1000 genomes]
rs2700507	1.00[ASN][1000 genomes]
rs2700517	1.00[ASN][1000 genomes]
rs2722177	1.00[ASN][1000 genomes]
rs2722180	1.00[ASN][1000 genomes]
rs2722187	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2722194	1.00[ASN][1000 genomes]
rs2723849	1.00[ASN][1000 genomes]
rs2723850	1.00[ASN][1000 genomes]
rs2723853	1.00[ASN][1000 genomes]
rs322104	1.00[ASN][1000 genomes]
rs322109	1.00[ASN][1000 genomes]
rs35140616	1.00[ASN][1000 genomes]
rs4135039	1.00[ASN][1000 genomes]
rs4135040	1.00[ASN][1000 genomes]
rs4135047	1.00[ASN][1000 genomes]
rs4135048	1.00[ASN][1000 genomes]
rs4135050	1.00[ASN][1000 genomes]
rs4135061	1.00[ASN][1000 genomes]
rs4135062	1.00[ASN][1000 genomes]
rs4135066	1.00[ASN][1000 genomes]
rs784084	1.00[ASN][1000 genomes]
rs931306	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3344053	chr12:104299847-104302395	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104295800-104303000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr12:104295800-104303200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:104295800-104303800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:104299400-104303000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:104299600-104302000	Enhancers	NHEK	skin
6	chr12:104299600-104302600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:104299800-104303000	Enhancers	Fetal Thymus	thymus
8	chr12:104300400-104302000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:104300600-104302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:104301000-104303600	Weak transcription	Spleen	Spleen
11	chr12:104301400-104302400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:104301400-104302400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:104301400-104302400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:104301400-104302800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:104301400-104304200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:104301400-104304200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:104301400-104304200	Enhancers	HMEC	breast
18	chr12:104301400-104304400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:104301400-104304400	Enhancers	HSMMtube	muscle
20	chr12:104301600-104302200	Weak transcription	HSMM	muscle
21	chr12:104301600-104302400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:104301600-104302400	Enhancers	Thymus	Thymus
23	chr12:104301600-104302600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:104301800-104302200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:104301800-104302200	Weak transcription	NHDF-Ad	bronchial
26	chr12:104301800-104302200	Weak transcription	Osteobl	bone
27	chr12:104301800-104302600	Weak transcription	NH-A	brain
28	chr12:104301800-104302800	Enhancers	GM12878-XiMat	blood

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