Variant report

Variant	rs139630150
Chromosome Location	chr2:189187353-189187354
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189186452..189188771-chr2:189190439..189192055,2	MCF-7	breast:
2	chr2:189186048..189188901-chr2:189195647..189197599,2	K562	blood:
3	chr2:189157973..189160899-chr2:189186398..189188411,2	MCF-7	breast:
4	chr2:189153673..189157464-chr2:189183823..189187433,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv431890	chr2:189175905-189202876	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv584053	chr2:189184422-189245515	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv275130	chr2:189185131-189188518	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv584054	chr2:189185726-189233419	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189178400-189191400	Weak transcription	Fetal Lung	lung
2	chr2:189179400-189187600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:189179800-189187400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:189180400-189187400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:189181800-189187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:189182000-189191400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:189182000-189192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:189183000-189196000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:189183400-189187400	Weak transcription	NH-A	brain
10	chr2:189183400-189197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:189183400-189198400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:189183600-189205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:189183600-189205400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:189183800-189187400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:189183800-189187400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:189183800-189187400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:189183800-189187400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:189183800-189187400	Weak transcription	Aorta	Aorta
19	chr2:189183800-189198600	Weak transcription	Ovary	ovary
20	chr2:189185000-189191600	Weak transcription	Placenta	Placenta
21	chr2:189185400-189189200	Enhancers	HUVEC	blood vessel
22	chr2:189186800-189187600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:189186800-189188000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:189186800-189188600	Flanking Active TSS	A549	lung
25	chr2:189187000-189187400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:189187000-189188000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:189187000-189188000	Enhancers	Stomach Mucosa	stomach
28	chr2:189187000-189188200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:189187000-189188400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:189187000-189188600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:189187000-189189000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:189187000-189189200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:189187000-189189200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:189187000-189189200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:189187000-189189800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:189187000-189190000	Enhancers	NHDF-Ad	bronchial
37	chr2:189187000-189190600	Enhancers	Osteobl	bone
38	chr2:189187200-189188000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:189187200-189188000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:189187200-189188200	Enhancers	Rectal Smooth Muscle	rectum
41	chr2:189187200-189190200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:189187200-189190200	Enhancers	NHLF	lung

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