Variant report

Variant	rs377588524
Chromosome Location	chr12:64174990-64174991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:64173169-64175918	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr12:64172589-64175771	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr12:64174818-64175185	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:64172533..64176121-chr12:64194832..64198679,5	K562	blood:
2	chr12:64172395..64175865-chr12:64176316..64181928,12	K562	blood:
3	chr12:64172631..64179011-chr12:64187703..64190145,6	MCF-7	breast:
4	chr12:64172589..64175160-chr12:64189373..64193026,5	MCF-7	breast:
5	chr12:64173978..64177817-chr12:64182120..64184728,4	K562	blood:
6	chr12:64172802..64174995-chr12:64236940..64239856,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM5	TF binding region
ENSG00000249753	Chromatin interaction
ENSG00000196935	Chromatin interaction
ENSG00000118600	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv899171	chr12:63916682-64202233	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv430514	chr12:63939733-64183598	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3517152	chr12:64174867-64178831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv3517153	chr12:64174867-64178831	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64172800-64175200	Active TSS	K562	blood
2	chr12:64173000-64175000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:64173000-64175000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:64173000-64175000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:64173000-64175000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:64173200-64175000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:64173200-64175000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:64173200-64175000	Active TSS	NHLF	lung
9	chr12:64173200-64175200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:64173200-64175200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr12:64173200-64175600	Active TSS	Ovary	ovary
12	chr12:64173600-64175200	Active TSS	HMEC	breast
13	chr12:64174000-64175000	Flanking Active TSS	HUVEC	blood vessel
14	chr12:64174200-64175000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr12:64174200-64175000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:64174200-64175200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:64174200-64175400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:64174200-64175400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:64174400-64175000	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:64174400-64175000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr12:64174400-64175000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr12:64174400-64175200	Weak transcription	Placenta	Placenta
23	chr12:64174400-64176000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:64174400-64176000	Weak transcription	Left Ventricle	heart
25	chr12:64174400-64176200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:64174400-64176200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:64174400-64177200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:64174400-64180600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:64174400-64180600	Weak transcription	Gastric	stomach
30	chr12:64174400-64184000	Weak transcription	Esophagus	oesophagus
31	chr12:64174400-64184000	Weak transcription	Lung	lung
32	chr12:64174400-64189200	Weak transcription	Pancreas	Pancrea
33	chr12:64174400-64200200	Weak transcription	Spleen	Spleen
34	chr12:64174400-64201800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:64174400-64203400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:64174400-64204400	Weak transcription	Small Intestine	intestine
37	chr12:64174400-64204800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:64174600-64175000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr12:64174600-64175000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:64174600-64175000	Enhancers	Primary hematopoietic stem cells	blood
41	chr12:64174600-64175000	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr12:64174600-64175000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:64174600-64175000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr12:64174600-64175000	Enhancers	Brain Anterior Caudate	brain
45	chr12:64174600-64175000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:64174600-64175000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:64174600-64175000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr12:64174600-64175000	Enhancers	Fetal Intestine Small	intestine
49	chr12:64174600-64175000	Enhancers	Fetal Lung	lung
50	chr12:64174600-64175000	Enhancers	Fetal Stomach	stomach

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