Variant report

Variant	rs60726219
Chromosome Location	chr2:233706721-233706722
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3738904	0.80[ASN][1000 genomes]
rs57513852	0.81[ASN][1000 genomes]
rs57667610	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58466616	0.83[ASN][1000 genomes]
rs59488869	0.80[ASN][1000 genomes]
rs59514271	0.80[ASN][1000 genomes]
rs60103392	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73106355	0.80[ASN][1000 genomes]
rs73106363	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv584697	chr2:233684097-233733352	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233667600-233726400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:233689000-233713000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:233689200-233726400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:233691200-233717200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:233696400-233714200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:233698400-233723600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:233699200-233712000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:233699200-233717000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:233699800-233717000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:233700600-233708800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:233700600-233714200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:233700800-233707200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:233701000-233707400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:233701000-233729200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr2:233701800-233707400	Weak transcription	Right Atrium	heart
17	chr2:233701800-233717000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:233702000-233706800	Weak transcription	Esophagus	oesophagus
19	chr2:233702000-233706800	Weak transcription	Lung	lung
20	chr2:233702600-233708800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:233703200-233708600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:233703400-233712000	Weak transcription	Right Ventricle	heart
23	chr2:233703400-233712600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:233703400-233716600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:233703400-233717000	Strong transcription	Placenta	Placenta
26	chr2:233703400-233718600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:233703400-233726400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:233703400-233726600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:233703600-233707200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:233703600-233707400	Weak transcription	A549	lung
31	chr2:233703600-233708800	Weak transcription	Pancreas	Pancrea
32	chr2:233703600-233714200	Weak transcription	Stomach Mucosa	stomach
33	chr2:233703600-233717200	Strong transcription	Thymus	Thymus
34	chr2:233703600-233718400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:233703600-233725200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:233703800-233706800	Strong transcription	HepG2	liver
37	chr2:233703800-233707600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:233703800-233716800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:233703800-233717000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:233703800-233717000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:233703800-233717200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:233703800-233724800	Strong transcription	Dnd41	blood
43	chr2:233704000-233707000	Strong transcription	Osteobl	bone
44	chr2:233704000-233707200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:233704000-233707800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:233704000-233708800	Weak transcription	Colonic Mucosa	Colon
47	chr2:233704000-233709600	Strong transcription	Psoas Muscle	Psoas
48	chr2:233704000-233717000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:233704000-233717200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:233704000-233721400	Strong transcription	Fetal Intestine Large	intestine

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