Variant report

Variant	rs2393834
Chromosome Location	chr12:121750989-121750990
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	chr12:121750888-121751085	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121749778..121751690-chr12:121768081..121770948,2	K562	blood:
2	chr12:121740867..121743563-chr12:121749932..121751434,2	K562	blood:

Variant related genes	Relation type
ANAPC5	TF binding region
ENSG00000089053	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1169804	1.00[EUR][1000 genomes]
rs1567630	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60773958	1.00[EUR][1000 genomes]
rs73405770	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121735600-121755600	Weak transcription	Brain Angular Gyrus	brain
2	chr12:121735600-121755800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:121735600-121755800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:121735600-121755800	Weak transcription	Aorta	Aorta
5	chr12:121735600-121755800	Weak transcription	Esophagus	oesophagus
6	chr12:121735800-121754000	Weak transcription	Fetal Kidney	kidney
7	chr12:121735800-121755800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:121735800-121755800	Weak transcription	Right Ventricle	heart
9	chr12:121735800-121756000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:121735800-121764200	Weak transcription	Fetal Heart	heart
11	chr12:121736000-121761200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:121738400-121755800	Weak transcription	Psoas Muscle	Psoas
13	chr12:121741400-121754000	Weak transcription	HepG2	liver
14	chr12:121742400-121754800	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:121742600-121766200	Weak transcription	Fetal Brain Male	brain
16	chr12:121744000-121763600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:121744200-121783400	Weak transcription	Stomach Mucosa	stomach
18	chr12:121744800-121754000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:121745000-121752800	Strong transcription	Fetal Intestine Small	intestine
20	chr12:121745200-121751000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:121745400-121752800	Strong transcription	Fetal Stomach	stomach
22	chr12:121745600-121751000	Strong transcription	Thymus	Thymus
23	chr12:121745600-121751400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr12:121745600-121751400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:121745600-121751800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:121745600-121753400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:121745800-121751000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:121745800-121751600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:121746400-121755400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:121746600-121752200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:121746600-121754600	Weak transcription	NHDF-Ad	bronchial
32	chr12:121746600-121755600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:121746600-121755800	Weak transcription	Small Intestine	intestine
34	chr12:121747400-121755800	Weak transcription	Colonic Mucosa	Colon
35	chr12:121747600-121754600	Weak transcription	Left Ventricle	heart
36	chr12:121747600-121754800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:121747800-121751800	Weak transcription	Pancreas	Pancrea
38	chr12:121747800-121753400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:121747800-121754000	Weak transcription	Ovary	ovary
40	chr12:121747800-121754600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:121747800-121754600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:121747800-121755200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:121747800-121755200	Weak transcription	Brain Germinal Matrix	brain
44	chr12:121747800-121755400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:121747800-121755600	Weak transcription	Spleen	Spleen
46	chr12:121747800-121755800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:121747800-121755800	Weak transcription	Gastric	stomach
48	chr12:121747800-121755800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:121748000-121753200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:121748000-121754000	Weak transcription	Brain Cingulate Gyrus	brain

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