Variant report

Variant	rs57989020
Chromosome Location	chr12:10368100-10368101
allele	A/C
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	chr12:10364743-10368315	Hela-S3	cervix:	n/a	n/a
2	RUNX3	chr12:10368021-10368454	GM12878	blood:	n/a	chr12:10368276-10368285 chr12:10368276-10368285
3	POLR2A	chr12:10365925-10368484	K562	blood:	n/a	n/a
4	STAT1	chr12:10367268-10368793	Hela-S3	cervix:	n/a	chr12:10368140-10368151 chr12:10367475-10367482 chr12:10368218-10368230 chr12:10368358-10368366
5	POLR2A	chr12:10364695-10368382	HUVEC	blood vessel:	n/a	n/a
6	RCOR1	chr12:10367683-10368168	K562	blood:	n/a	n/a
7	RUNX3	chr12:10368071-10368472	GM12878	blood:	n/a	chr12:10368276-10368285 chr12:10368276-10368285
8	POLR2A	chr12:10364689-10371257	IMR90	lung:	n/a	n/a
9	POLR2A	chr12:10364722-10368331	Hela-S3	cervix:	n/a	n/a
10	CHD1	chr12:10363939-10368549	IMR90	lung:	n/a	chr12:10365036-10365046 chr12:10365423-10365433
11	POLR2A	chr12:10367841-10368156	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr12:10367160-10368268	Hela-S3	cervix:	n/a	chr12:10367475-10367482 chr12:10368218-10368230

No.	Distal block	Cell Line	Cell type
1	chr12:10367004..10369055-chr12:10765454..10767041,2	K562	blood:
2	chr12:10363710..10369534-chr12:10376619..10381190,6	K562	blood:
3	chr12:10364222..10366094-chr12:10367394..10369564,2	K562	blood:
4	chr1:41329419..41329951-chr12:10367814..10368363,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000255958	TF binding region
ENSG00000134539	Chromatin interaction
ENSG00000139112	Chromatin interaction
ENSG00000111196	Chromatin interaction
ENSG00000229528	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11838090	1.00[AMR][1000 genomes]
rs34401616	1.00[AMR][1000 genomes]
rs35775301	1.00[AMR][1000 genomes]
rs55963190	1.00[AMR][1000 genomes]
rs57041498	1.00[AMR][1000 genomes]
rs60220961	1.00[AMR][1000 genomes]
rs73251088	1.00[AMR][1000 genomes]
rs73252885	1.00[AMR][1000 genomes]
rs73262640	1.00[AMR][1000 genomes]
rs73262645	1.00[AMR][1000 genomes]
rs73262654	1.00[AMR][1000 genomes]
rs73262700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264786	1.00[AMR][1000 genomes]
rs73266605	1.00[AMR][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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10364400-10368200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:10364600-10368200	Active TSS	Colonic Mucosa	Colon
3	chr12:10364600-10368400	Active TSS	Fetal Kidney	kidney
4	chr12:10364600-10368800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr12:10365000-10368200	Active TSS	Right Atrium	heart
6	chr12:10365000-10368600	Active TSS	Left Ventricle	heart
7	chr12:10365200-10368200	Active TSS	Right Ventricle	heart
8	chr12:10365200-10368600	Active TSS	Placenta	Placenta
9	chr12:10366600-10368400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:10366600-10370600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:10366800-10368400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr12:10366800-10368400	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr12:10366800-10369000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:10366800-10371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:10366800-10372600	Weak transcription	Gastric	stomach
16	chr12:10366800-10373000	Weak transcription	Esophagus	oesophagus
17	chr12:10366800-10386600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:10367000-10368200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr12:10367000-10368400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:10367000-10368400	Enhancers	Fetal Heart	heart
21	chr12:10367000-10368400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr12:10367000-10368600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:10367000-10368600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr12:10367000-10368800	Enhancers	Fetal Thymus	thymus
25	chr12:10367000-10369000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:10367000-10370600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:10367000-10371800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:10367000-10372400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:10367200-10368200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr12:10367200-10368200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr12:10367200-10368200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr12:10367200-10368400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr12:10367200-10368400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:10367200-10368400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:10367200-10368400	Enhancers	Stomach Mucosa	stomach
36	chr12:10367200-10368800	Flanking Active TSS	Liver	Liver
37	chr12:10367200-10369000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:10367200-10370200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:10367400-10368200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr12:10367400-10368200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:10367400-10368200	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr12:10367400-10368200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr12:10367400-10368200	Flanking Active TSS	HUVEC	blood vessel
44	chr12:10367400-10368400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr12:10367400-10368400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:10367400-10368400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr12:10367400-10368400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr12:10367400-10368400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:10367400-10368400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:10367400-10368400	Enhancers	Primary T cells from cord blood	blood

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