Variant report

Variant	rs117214481
Chromosome Location	chr2:189183596-189183597
allele	A/T
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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189169400-189187200	Weak transcription	NHLF	lung
2	chr2:189178400-189191400	Weak transcription	Fetal Lung	lung
3	chr2:189179400-189187600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:189179800-189187400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:189180400-189187400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:189181600-189185000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:189181800-189187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:189182000-189184400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:189182000-189187000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:189182000-189191400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:189182000-189192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:189182600-189183600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:189182600-189183600	Enhancers	NHDF-Ad	bronchial
14	chr2:189182600-189183800	Enhancers	Osteobl	bone
15	chr2:189182600-189185800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:189183000-189183800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:189183000-189187200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:189183000-189196000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:189183200-189183600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:189183200-189183600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:189183200-189183600	Enhancers	Gastric	stomach
22	chr2:189183200-189183800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:189183200-189183800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:189183200-189183800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:189183200-189183800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:189183200-189183800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:189183200-189183800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:189183200-189183800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:189183200-189183800	Enhancers	Ovary	ovary
30	chr2:189183200-189184000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:189183200-189184000	Enhancers	Pancreas	Pancrea
32	chr2:189183200-189185000	Enhancers	A549	lung
33	chr2:189183400-189184600	Enhancers	HUVEC	blood vessel
34	chr2:189183400-189187000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:189183400-189187000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:189183400-189187000	Weak transcription	Stomach Mucosa	stomach
37	chr2:189183400-189187400	Weak transcription	NH-A	brain
38	chr2:189183400-189197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:189183400-189198400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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