Variant report

Variant	rs372647424
Chromosome Location	chr2:189183152-189183153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189176846..189180605-chr2:189180936..189184581,4	K562	blood:
2	chr2:189157067..189161608-chr2:189179360..189183934,6	K562	blood:
3	chr2:189182622..189184644-chr2:189189029..189191672,2	K562	blood:
4	chr2:189181542..189183620-chr2:189198410..189201258,2	K562	blood:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189168200-189183200	Weak transcription	Ovary	ovary
2	chr2:189168800-189183200	Weak transcription	A549	lung
3	chr2:189169400-189187200	Weak transcription	NHLF	lung
4	chr2:189170600-189183200	Weak transcription	Gastric	stomach
5	chr2:189178400-189191400	Weak transcription	Fetal Lung	lung
6	chr2:189179400-189183200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:189179400-189187600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:189179800-189183200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:189179800-189187400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:189180400-189187400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:189181000-189183200	Enhancers	HUVEC	blood vessel
12	chr2:189181600-189185000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:189181800-189183200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:189181800-189187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:189182000-189183200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:189182000-189183200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:189182000-189183200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:189182000-189183200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:189182000-189184400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:189182000-189187000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:189182000-189191400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:189182000-189192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:189182600-189183400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:189182600-189183600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:189182600-189183600	Enhancers	NHDF-Ad	bronchial
26	chr2:189182600-189183800	Enhancers	Osteobl	bone
27	chr2:189182600-189185800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:189183000-189183200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr2:189183000-189183400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:189183000-189183400	Enhancers	Stomach Mucosa	stomach
31	chr2:189183000-189183400	Enhancers	NH-A	brain
32	chr2:189183000-189183800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:189183000-189187200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:189183000-189196000	Enhancers	HUES64 Cell Line	embryonic stem cell

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