Variant report

Variant	rs2114868
Chromosome Location	chr12:9794611-9794612
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	chr12:9794253-9800349	K562	blood:	n/a	n/a

Variant related genes	Relation type
GOT2P3	TF binding region
ENSG00000272917	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10743798	0.83[AMR][1000 genomes]
rs10743801	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1863872	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4763262	0.85[AMR][1000 genomes]
rs59112803	1.00[AMR][1000 genomes]
rs60675581	0.85[AMR][1000 genomes]
rs6488079	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv2757489	chr12:9583455-9810764	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv917178	chr12:9637315-9820153	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv983280	chr12:9787339-9796334	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9771600-9799200	Weak transcription	Fetal Lung	lung
2	chr12:9785400-9799400	Weak transcription	Fetal Brain Male	brain
3	chr12:9787400-9799800	Weak transcription	Pancreas	Pancrea
4	chr12:9787600-9796200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:9788000-9795000	Weak transcription	Dnd41	blood
6	chr12:9788400-9795600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:9790000-9796000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:9790400-9797600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:9791000-9797600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:9791400-9795600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:9791600-9799400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:9791800-9795000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:9791800-9795200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:9791800-9795400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:9792000-9794800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:9792000-9795200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:9792000-9795200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:9792000-9795200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:9792000-9796000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:9792000-9797600	Weak transcription	HMEC	breast
21	chr12:9792000-9800000	Weak transcription	NHEK	skin
22	chr12:9792200-9795800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:9792400-9795200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:9792600-9795000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:9792600-9800000	Weak transcription	Brain Germinal Matrix	brain
26	chr12:9792800-9800200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:9793000-9795000	Weak transcription	Primary T cells from cord blood	blood
28	chr12:9793000-9800000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:9794000-9795800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr12:9794200-9795200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:9794200-9795200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:9794200-9795400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:9794200-9795800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:9794400-9795600	Strong transcription	Fetal Stomach	stomach
35	chr12:9794400-9800200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:9794600-9795800	ZNF genes & repeats	GM12878-XiMat	blood

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