Variant report

Variant	rs189778987
Chromosome Location	chr12:9216363-9216364
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr12:9216253-9217272	Hela-S3	cervix:	n/a	n/a
2	BRCA1	chr12:9216286-9217008	Hela-S3	cervix:	n/a	n/a
3	GATA3	chr12:9216130-9216865	SH-SY5Y	brain:	n/a	n/a
4	USF2	chr12:9216316-9216918	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr12:9216281-9217703	A549	lung:	n/a	n/a
6	POLR2A	chr12:9216189-9218094	MCF10A-Er-Src	breast:	n/a	n/a
7	HCFC1	chr12:9216165-9218175	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:9215746-9218063	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr12:9216230-9218354	Hela-S3	cervix:	n/a	n/a
10	TBP	chr12:9216357-9217078	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:9216161-9220988	HepG2	liver:	n/a	n/a
12	RFX5	chr12:9216342-9217955	Hela-S3	cervix:	n/a	n/a
13	MXI1	chr12:9216353-9217739	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9215875..9217619-chr12:9231750..9233292,2	MCF-7	breast:
2	chr12:9213127..9215048-chr12:9215449..9217548,2	MCF-7	breast:
3	chr12:9215856..9217597-chr12:9482273..9484056,2	MCF-7	breast:
4	chr12:9064962..9066827-chr12:9216213..9218614,2	MCF-7	breast:
5	chr12:9213363..9214954-chr12:9215325..9217533,2	MCF-7	breast:
6	chr12:9215493..9217658-chr12:9271346..9273980,2	MCF-7	breast:
7	chr12:9100379..9103293-chr12:9215519..9218225,4	MCF-7	breast:
8	chr12:8848507..8851298-chr12:9215870..9217959,3	MCF-7	breast:

No data

Variant related genes	Relation type
A2M-AS1	TF binding region
ENSG00000175899	Chromatin interaction
ENSG00000003056	Chromatin interaction
ENSG00000139187	Chromatin interaction
ENSG00000166532	Chromatin interaction
ENSG00000111752	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS 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 miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3348319	chr12:9214085-9216383	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9178400-9216400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:9199800-9216600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:9202000-9216600	Weak transcription	Left Ventricle	heart
4	chr12:9204200-9216800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:9211200-9216600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:9214600-9216800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:9215800-9216400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:9216000-9216400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:9216000-9216400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr12:9216000-9216400	Enhancers	Fetal Lung	lung
11	chr12:9216000-9216600	Enhancers	Fetal Heart	heart
12	chr12:9216000-9216600	Enhancers	Stomach Smooth Muscle	stomach
13	chr12:9216000-9216800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:9216000-9216800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:9216000-9216800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:9216200-9216400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr12:9216200-9216400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:9216200-9216400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:9216200-9216400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:9216200-9216400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:9216200-9216400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:9216200-9216400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:9216200-9216400	Enhancers	Adipose Nuclei	Adipose
24	chr12:9216200-9216400	Enhancers	Brain Cingulate Gyrus	brain
25	chr12:9216200-9216400	Enhancers	Brain Substantia Nigra	brain
26	chr12:9216200-9216400	Enhancers	Duodenum Mucosa	Duodenum
27	chr12:9216200-9216400	Enhancers	Fetal Intestine Large	intestine
28	chr12:9216200-9216400	Enhancers	Fetal Kidney	kidney
29	chr12:9216200-9216400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:9216200-9216400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr12:9216200-9216400	Enhancers	A549	lung
32	chr12:9216200-9216400	Enhancers	HMEC	breast
33	chr12:9216200-9216600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:9216200-9216600	Enhancers	Primary T cells from cord blood	blood
35	chr12:9216200-9216600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr12:9216200-9216600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:9216200-9216600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:9216200-9216600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:9216200-9216600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:9216200-9216600	Enhancers	Brain Anterior Caudate	brain
41	chr12:9216200-9216600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr12:9216200-9216600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr12:9216200-9216600	Enhancers	Fetal Intestine Small	intestine
44	chr12:9216200-9216600	Enhancers	Rectal Smooth Muscle	rectum
45	chr12:9216200-9216600	Enhancers	Right Ventricle	heart
46	chr12:9216200-9216600	Enhancers	HUVEC	blood vessel
47	chr12:9216200-9216600	Enhancers	NHEK	skin
48	chr12:9216200-9216800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr12:9216200-9216800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:9216200-9216800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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