Variant report

Variant	rs11575218
Chromosome Location	chr12:56755120-56755121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56755120-56755653	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:56755028-56755140	HepG2	liver:	n/a	n/a
3	MTA3	chr12:56753405-56755367	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:56754943-56755652	GM12878	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56710034..56711597-chr12:56754145..56755894,2	K562	blood:
2	chr12:56754664..56756390-chr12:56756425..56758506,2	K562	blood:
3	chr12:56748050..56751002-chr12:56753460..56756305,2	K562	blood:
4	chr12:56707405..56709200-chr12:56752769..56755378,2	MCF-7	breast:
5	chr12:56752493..56755436-chr12:56859728..56862331,2	MCF-7	breast:
6	chr12:56752523..56755343-chr12:56862151..56864248,2	MCF-7	breast:
7	chr12:56743017..56746738-chr12:56752337..56755444,3	K562	blood:
8	chr12:56727184..56732099-chr12:56751309..56755132,9	K562	blood:
9	chr12:56753830..56756625-chr12:57028420..57030715,2	MCF-7	breast:
10	chr12:56726570..56729841-chr12:56754004..56757409,3	MCF-7	breast:
11	chr12:56725978..56729877-chr12:56750632..56755261,5	MCF-7	breast:
12	chr12:56747914..56751304-chr12:56752091..56755313,3	MCF-7	breast:
13	chr12:56694141..56695948-chr12:56754133..56756336,2	MCF-7	breast:
14	chr12:56753916..56755760-chr12:56841528..56845904,3	K562	blood:
15	chr12:56716783..56718738-chr12:56753948..56755499,2	K562	blood:
16	chr12:56582084..56583845-chr12:56753291..56755155,2	MCF-7	breast:
17	chr12:56582392..56584464-chr12:56753681..56756139,2	MCF-7	breast:
18	chr12:56721052..56723021-chr12:56754281..56756582,2	MCF-7	breast:
19	chr12:56753203..56755632-chr12:56841567..56843289,3	MCF-7	breast:

No data

Variant related genes	Relation type
STAT2	TF binding region
ENSG00000252206	Chromatin interaction
ENSG00000257303	Chromatin interaction
ENSG00000176422	Chromatin interaction
ENSG00000175336	Chromatin interaction
ENSG00000258199	Chromatin interaction
ENSG00000062485	Chromatin interaction
ENSG00000135517	Chromatin interaction
ENSG00000257727	Chromatin interaction
ENSG00000135473	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000111602	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000170581	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17118576	1.00[MEX][hapmap]
rs2066811	1.00[MEX][hapmap];0.82[MKK][hapmap]
rs2450104	1.00[MEX][hapmap];0.82[MKK][hapmap]
rs2629449	1.00[MEX][hapmap]
rs35382885	1.00[MEX][hapmap]
rs773644	1.00[MEX][hapmap]

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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56752400-56755200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:56752400-56755200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:56752400-56755200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:56752400-56755600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:56752600-56755200	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr12:56752800-56755200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:56753000-56755600	Active TSS	Brain Anterior Caudate	brain
8	chr12:56753200-56755200	Active TSS	Muscle Satellite Cultured Cells	--
9	chr12:56753200-56755200	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr12:56753200-56755400	Active TSS	Stomach Smooth Muscle	stomach
11	chr12:56753400-56755200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:56753400-56755200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:56753400-56755200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:56753400-56755200	Active TSS	Rectal Smooth Muscle	rectum
15	chr12:56753400-56756800	Active TSS	Liver	Liver
16	chr12:56754400-56755200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:56754600-56755200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr12:56754600-56755200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:56754600-56755200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:56754600-56755200	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr12:56754600-56755200	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr12:56754600-56755200	Flanking Active TSS	Hela-S3	cervix
23	chr12:56754600-56755600	Flanking Active TSS	Dnd41	blood
24	chr12:56754600-56756800	Flanking Active TSS	HepG2	liver
25	chr12:56754800-56755200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr12:56754800-56755200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:56754800-56755200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:56754800-56755200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:56754800-56755200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:56754800-56755200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr12:56754800-56755200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:56754800-56755200	Active TSS	Adipose Nuclei	Adipose
33	chr12:56754800-56755200	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr12:56754800-56755200	Flanking Active TSS	Fetal Lung	lung
35	chr12:56754800-56755200	Flanking Active TSS	A549	lung
36	chr12:56754800-56755200	Flanking Active TSS	K562	blood
37	chr12:56754800-56755400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:56754800-56755400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:56754800-56755400	Enhancers	Stomach Mucosa	stomach
40	chr12:56754800-56755600	Enhancers	Primary B cells from peripheral blood	blood
41	chr12:56754800-56755600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:56754800-56755600	Enhancers	Fetal Thymus	thymus
43	chr12:56754800-56755800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr12:56755000-56755200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:56755000-56755200	Enhancers	Primary T cells from cord blood	blood
46	chr12:56755000-56755200	Enhancers	Primary hematopoietic stem cells	blood
47	chr12:56755000-56755200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr12:56755000-56755200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr12:56755000-56755200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr12:56755000-56755200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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