Variant report

Variant	rs13382863
Chromosome Location	chr2:179138130-179138131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179133115..179135178-chr2:179137086..179139521,2	K562	blood:
2	chr2:179133771..179135468-chr2:179137443..179139598,2	MCF-7	breast:
3	chr2:179137626..179140251-chr2:179141207..179143730,3	K562	blood:
4	chr2:179130908..179132463-chr2:179135714..179138343,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs333987	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs333988	0.95[ASN][1000 genomes]

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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:179132800-179142400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:179133800-179142400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:179133800-179146800	Weak transcription	Esophagus	oesophagus
4	chr2:179135000-179139000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:179135200-179138400	Enhancers	K562	blood
6	chr2:179135200-179138800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:179135400-179142400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:179135800-179142600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:179136000-179138800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:179136000-179142400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:179136400-179138800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:179136600-179138400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:179136800-179146800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:179137000-179138800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:179137000-179142000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:179137000-179142000	Weak transcription	HSMM	muscle
17	chr2:179137200-179139400	Enhancers	Psoas Muscle	Psoas
18	chr2:179137200-179142400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:179137200-179142600	Weak transcription	HSMMtube	muscle
20	chr2:179137400-179139000	Enhancers	HMEC	breast
21	chr2:179137400-179139000	Enhancers	NHEK	skin
22	chr2:179137400-179141600	Weak transcription	Liver	Liver
23	chr2:179137400-179142400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:179137400-179142600	Weak transcription	Adipose Nuclei	Adipose
25	chr2:179137400-179142600	Weak transcription	Brain Anterior Caudate	brain
26	chr2:179137600-179138400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:179137600-179138600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:179137600-179138600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:179137600-179138600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:179137600-179141000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:179137600-179141600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:179137600-179141600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:179137600-179142400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:179137600-179142400	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:179137800-179138200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:179137800-179138600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:179137800-179139400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:179137800-179142400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:179137800-179142400	Weak transcription	Left Ventricle	heart
40	chr2:179137800-179142400	Weak transcription	Right Atrium	heart
41	chr2:179138000-179138200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:179138000-179141200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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