Variant report

Variant	rs192690159
Chromosome Location	chr12:123719761-123719762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123719666-123719942	HCT-116	colon:	n/a	n/a
2	POLR2A	chr12:123719678-123719849	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:123719467-123720110	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr12:123719756-123719871	K562	blood:	n/a	n/a
5	POLR2A	chr12:123719543-123720549	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:123344301..123346489-chr12:123716077..123720315,3	K562	blood:
2	chr12:123470053..123472975-chr12:123718822..123721771,2	K562	blood:
3	chr12:123714199..123721299-chr12:123733822..123739052,7	MCF-7	breast:
4	chr12:123452751..123454277-chr12:123718785..123720840,2	MCF-7	breast:
5	chr12:123463210..123468211-chr12:123716151..123721062,7	MCF-7	breast:
6	chr12:123718175..123719849-chr12:123755538..123757797,2	MCF-7	breast:
7	chr12:123715079..123721002-chr12:123721919..123730378,16	K562	blood:
8	chr12:123459054..123462367-chr12:123715409..123720380,5	K562	blood:
9	chr12:123632948..123634613-chr12:123717747..123719847,2	K562	blood:
10	chr12:123558968..123563276-chr12:123716606..123719909,6	MCF-7	breast:
11	chr12:123458147..123462549-chr12:123715608..123720287,8	MCF-7	breast:
12	chr12:123717014..123719935-chr12:123753310..123757333,7	K562	blood:
13	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:

No data

Variant related genes	Relation type
MPHOSPH9	TF binding region
ENSG00000051825	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000256028	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000182196	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
2	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS 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 miRNA target site	70 gene(s)	inside rSNPs	diseases
6	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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 miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv14000	chr12:123719423-123719876	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123716200-123719800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:123718400-123719800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr12:123718400-123719800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:123718400-123720000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:123718600-123719800	Flanking Active TSS	HMEC	breast
6	chr12:123718800-123719800	Weak transcription	Lung	lung
7	chr12:123718800-123719800	Enhancers	Spleen	Spleen
8	chr12:123718800-123720000	Enhancers	Small Intestine	intestine
9	chr12:123718800-123720200	Enhancers	Pancreas	Pancrea
10	chr12:123718800-123721000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:123718800-123722200	Weak transcription	Stomach Mucosa	stomach
12	chr12:123718800-123728400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:123718800-123728400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:123718800-123733000	Weak transcription	Esophagus	oesophagus
15	chr12:123718800-123733800	Weak transcription	Aorta	Aorta
16	chr12:123718800-123739600	Weak transcription	Fetal Kidney	kidney
17	chr12:123719000-123719800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:123719000-123719800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:123719000-123719800	Enhancers	Brain Substantia Nigra	brain
20	chr12:123719000-123719800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr12:123719000-123719800	Enhancers	Fetal Intestine Large	intestine
22	chr12:123719000-123719800	Enhancers	Fetal Intestine Small	intestine
23	chr12:123719000-123719800	Enhancers	Fetal Lung	lung
24	chr12:123719000-123719800	Weak transcription	Fetal Stomach	stomach
25	chr12:123719000-123719800	Weak transcription	Psoas Muscle	Psoas
26	chr12:123719000-123720000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:123719000-123720000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:123719000-123720000	Enhancers	Adipose Nuclei	Adipose
29	chr12:123719000-123720000	Enhancers	Brain Cingulate Gyrus	brain
30	chr12:123719000-123720000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr12:123719000-123720000	Enhancers	Colon Smooth Muscle	Colon
32	chr12:123719000-123720000	Enhancers	Duodenum Mucosa	Duodenum
33	chr12:123719000-123720000	Enhancers	Fetal Heart	heart
34	chr12:123719000-123720000	Enhancers	HUVEC	blood vessel
35	chr12:123719000-123720200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:123719000-123720600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:123719000-123720800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:123719000-123721200	Enhancers	Liver	Liver
39	chr12:123719000-123722200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:123719000-123722200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:123719000-123722200	Enhancers	Primary B cells from cord blood	blood
42	chr12:123719000-123722200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr12:123719000-123722200	Weak transcription	HSMMtube	muscle
44	chr12:123719000-123722600	Weak transcription	Placenta	Placenta
45	chr12:123719000-123724400	Weak transcription	HSMM	muscle
46	chr12:123719000-123725000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:123719000-123725400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:123719000-123725400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:123719000-123726200	Weak transcription	Right Ventricle	heart
50	chr12:123719000-123726200	Weak transcription	Monocytes-CD14+_RO01746	blood

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