Variant report

Variant	rs62177257
Chromosome Location	chr2:179142198-179142199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:179140423..179143363-chr2:179145106..179148015,2	K562	blood:
2	chr2:179137626..179140251-chr2:179141207..179143730,3	K562	blood:
3	chr2:179058195..179061021-chr2:179140887..179143423,2	K562	blood:
4	chr2:179141793..179143622-chr2:179155876..179157872,2	K562	blood:
5	chr2:179125831..179128251-chr2:179141469..179144423,2	K562	blood:
6	chr2:179140566..179142281-chr2:179143545..179145094,2	K562	blood:
7	chr2:179138712..179140611-chr2:179141207..179143775,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000079156	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10167889	1.00[EUR][1000 genomes]
rs12467696	1.00[EUR][1000 genomes]
rs12471986	0.86[EUR][1000 genomes]
rs1992753	1.00[EUR][1000 genomes]
rs4893850	0.81[EUR][1000 genomes]
rs4894005	0.86[EUR][1000 genomes]
rs4894006	0.99[EUR][1000 genomes]
rs62176069	0.87[EUR][1000 genomes]
rs62176070	0.87[EUR][1000 genomes]
rs62176071	0.83[EUR][1000 genomes]
rs62176072	0.83[EUR][1000 genomes]
rs62176076	0.81[EUR][1000 genomes]
rs62176078	0.81[EUR][1000 genomes]
rs62177255	0.82[EUR][1000 genomes]
rs62177256	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62179160	0.86[EUR][1000 genomes]
rs62179161	0.86[EUR][1000 genomes]
rs62179162	0.97[EUR][1000 genomes]
rs62179163	0.99[EUR][1000 genomes]
rs62179164	0.99[EUR][1000 genomes]
rs62179165	0.86[EUR][1000 genomes]
rs62179167	0.97[EUR][1000 genomes]
rs6433718	0.86[EUR][1000 genomes]
rs6743122	0.86[EUR][1000 genomes]
rs73032523	0.83[EUR][1000 genomes]
rs7349264	0.87[EUR][1000 genomes]
rs7559125	0.83[EUR][1000 genomes]
rs7559527	0.83[EUR][1000 genomes]
rs7570485	0.83[EUR][1000 genomes]
rs7599195	0.81[EUR][1000 genomes]
rs9808049	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

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	chr2:179135400-179142400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:179135800-179142600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:179136000-179142400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:179136800-179146800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:179137200-179142400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:179137200-179142600	Weak transcription	HSMMtube	muscle
10	chr2:179137400-179142400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:179137400-179142600	Weak transcription	Adipose Nuclei	Adipose
12	chr2:179137400-179142600	Weak transcription	Brain Anterior Caudate	brain
13	chr2:179137600-179142400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:179137600-179142400	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:179137800-179142400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:179137800-179142400	Weak transcription	Left Ventricle	heart
17	chr2:179137800-179142400	Weak transcription	Right Atrium	heart
18	chr2:179138600-179142400	Weak transcription	NH-A	brain
19	chr2:179138800-179142400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:179138800-179142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:179138800-179142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:179138800-179142400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:179139000-179142200	Weak transcription	HMEC	breast
24	chr2:179139000-179142400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:179139000-179142400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:179139000-179142400	Weak transcription	NHEK	skin
27	chr2:179139000-179142600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:179139000-179143600	Weak transcription	Hela-S3	cervix
29	chr2:179139200-179142200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:179139400-179142400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:179139400-179142400	Weak transcription	Fetal Intestine Large	intestine
32	chr2:179139400-179142400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:179139600-179142400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:179140200-179142600	Weak transcription	Psoas Muscle	Psoas
35	chr2:179140600-179142400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:179140800-179142200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:179140800-179142400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:179140800-179142400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:179141000-179146800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:179141200-179146800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:179141600-179142200	Enhancers	Liver	Liver
42	chr2:179141600-179142200	Enhancers	K562	blood
43	chr2:179141600-179142400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:179141600-179145600	Enhancers	Fetal Intestine Small	intestine
45	chr2:179141800-179142200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:179141800-179142200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:179141800-179143200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:179142000-179142200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:179142000-179142400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr2:179142000-179142400	Enhancers	HepG2	liver

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