Variant report

Variant	rs62183460
Chromosome Location	chr2:172269157-172269158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172268552..172271500-chr2:172290361..172292599,3	K562	blood:
2	chr2:172267543..172269824-chr2:172270765..172273272,4	K562	blood:
3	chr2:172268552..172270957-chr2:172288893..172292599,4	K562	blood:
4	chr2:172264614..172267336-chr2:172269012..172271608,3	K562	blood:
5	chr2:172267840..172270296-chr2:172270765..172273449,2	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10460358	0.82[ASN][1000 genomes]
rs10930473	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11677562	0.80[ASN][1000 genomes]
rs11679641	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12052810	0.80[ASN][1000 genomes]
rs12465868	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12469151	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12616940	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1558963	0.87[ASN][1000 genomes]
rs17285260	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2356709	0.82[ASN][1000 genomes]
rs4667685	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55862836	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62181358	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66893860	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6747400	0.87[ASN][1000 genomes]
rs7590275	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs997666	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172238000-172272400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:172238800-172272400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:172258600-172272400	Weak transcription	A549	lung
5	chr2:172259400-172272200	Weak transcription	Fetal Intestine Small	intestine
6	chr2:172260000-172271000	Weak transcription	K562	blood
7	chr2:172260200-172272200	Weak transcription	HepG2	liver
8	chr2:172261600-172277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:172264800-172272400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:172265000-172272200	Weak transcription	Primary B cells from cord blood	blood
11	chr2:172266000-172269800	Enhancers	NHDF-Ad	bronchial
12	chr2:172266400-172269200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:172266400-172269400	Enhancers	HUVEC	blood vessel
14	chr2:172266400-172269600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:172266400-172269600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:172266400-172270000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:172266400-172271200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:172266400-172271600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:172266400-172272200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:172266400-172272200	Weak transcription	Brain Anterior Caudate	brain
21	chr2:172266400-172272400	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:172266400-172272400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:172266400-172277400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:172266400-172280400	Weak transcription	Esophagus	oesophagus
25	chr2:172266400-172280400	Weak transcription	Left Ventricle	heart
26	chr2:172266400-172289600	Weak transcription	Psoas Muscle	Psoas
27	chr2:172266400-172289600	Weak transcription	Right Ventricle	heart
28	chr2:172266600-172269200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:172266600-172269200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:172266800-172269200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:172266800-172272200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:172266800-172272200	Weak transcription	Fetal Stomach	stomach
33	chr2:172267200-172269200	Enhancers	HMEC	breast
34	chr2:172267200-172269200	Enhancers	NHEK	skin
35	chr2:172267200-172269800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:172267400-172269400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:172267400-172272200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:172267400-172272400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:172267400-172272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:172267400-172272400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:172267600-172269600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:172267600-172272200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:172267800-172269200	Enhancers	NHLF	lung
44	chr2:172267800-172272400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:172268000-172269600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:172268000-172269800	Enhancers	Osteobl	bone
47	chr2:172268000-172272400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:172268000-172272400	Weak transcription	Fetal Kidney	kidney
49	chr2:172268200-172269800	Enhancers	Colon Smooth Muscle	Colon
50	chr2:172268400-172269600	Enhancers	Fetal Brain Female	brain

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