Variant report

Variant	rs13401080
Chromosome Location	chr2:179136319-179136320
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179134962..179137702-chr2:179142428..179144943,2	K562	blood:
2	chr2:179130908..179132463-chr2:179135714..179138343,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12471986	1.00[ASN][1000 genomes]
rs334595	0.85[EUR][1000 genomes]
rs334596	0.85[EUR][1000 genomes]
rs334597	0.85[EUR][1000 genomes]
rs334598	0.85[EUR][1000 genomes]
rs334601	0.85[EUR][1000 genomes]
rs334605	0.85[EUR][1000 genomes]
rs334609	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs334615	0.85[EUR][1000 genomes]
rs4894005	1.00[ASN][1000 genomes]
rs62179160	1.00[ASN][1000 genomes]
rs62179161	1.00[ASN][1000 genomes]
rs62179165	1.00[ASN][1000 genomes]
rs6433718	1.00[ASN][1000 genomes]
rs6743122	1.00[ASN][1000 genomes]
rs6756568	0.85[EUR][1000 genomes];1.00[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179111200-179137400	Weak transcription	Right Atrium	heart
2	chr2:179126000-179136600	Weak transcription	Aorta	Aorta
3	chr2:179131200-179136400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:179131200-179136600	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:179131200-179136600	Weak transcription	HSMM	muscle
6	chr2:179131400-179136600	Weak transcription	HSMMtube	muscle
7	chr2:179132600-179136600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:179132800-179142400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:179133200-179136600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:179133800-179136400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:179133800-179136400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:179133800-179142400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:179133800-179146800	Weak transcription	Esophagus	oesophagus
14	chr2:179134600-179136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:179134800-179137400	Weak transcription	Right Ventricle	heart
16	chr2:179134800-179137600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:179135000-179137400	Weak transcription	Left Ventricle	heart
18	chr2:179135000-179139000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:179135200-179136600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:179135200-179137000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:179135200-179138400	Enhancers	K562	blood
22	chr2:179135200-179138800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:179135400-179136600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:179135400-179137800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:179135400-179142400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:179135600-179136400	Enhancers	Stomach Smooth Muscle	stomach
27	chr2:179135600-179136600	Enhancers	HMEC	breast
28	chr2:179135600-179136800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:179135600-179137400	Enhancers	Brain Anterior Caudate	brain
30	chr2:179135800-179136600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:179135800-179136600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:179135800-179137200	Weak transcription	Psoas Muscle	Psoas
33	chr2:179135800-179142600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:179136000-179136800	Enhancers	NHEK	skin
35	chr2:179136000-179137000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:179136000-179137400	Enhancers	Liver	Liver
37	chr2:179136000-179137600	Enhancers	Fetal Muscle Leg	muscle
38	chr2:179136000-179137800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:179136000-179137800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr2:179136000-179138800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:179136000-179142400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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