Variant report

Variant	rs704918
Chromosome Location	chr3:43033152-43033153
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43032109..43034625-chr3:43036764..43039846,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10212191	0.82[ASN][1000 genomes]
rs10510736	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2001682	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28435122	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28548208	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2948619	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35110063	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3953390	0.83[EUR][1000 genomes]
rs531888	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs532792	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55701670	0.86[EUR][1000 genomes]
rs62247060	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62247061	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62247062	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6442134	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs644534	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6764648	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6783218	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6792817	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6793871	0.92[EUR][1000 genomes]
rs6794402	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6806427	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7633590	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs834177	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs872126	0.82[ASN][1000 genomes]
rs9311332	0.82[ASN][1000 genomes]
rs9821320	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9848904	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9858123	0.85[EUR][1000 genomes]
rs9863179	0.82[EUR][1000 genomes]
rs9872107	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9874514	0.92[EUR][1000 genomes];0.93[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	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv460523	chr3:43025986-43063406	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv590150	chr3:43025986-43063406	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43022000-43037000	Weak transcription	Right Atrium	heart
2	chr3:43023000-43037800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr3:43027000-43033200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:43029800-43033200	Weak transcription	Esophagus	oesophagus
5	chr3:43030400-43033600	Weak transcription	Adipose Nuclei	Adipose
6	chr3:43030800-43037800	Weak transcription	Liver	Liver
7	chr3:43031200-43034200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:43032000-43034000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr3:43032000-43034200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:43032000-43034400	Enhancers	Brain Hippocampus Middle	brain
11	chr3:43032200-43034000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr3:43032200-43034000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:43032200-43034000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:43032200-43034000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:43032200-43034200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:43032200-43034200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:43032200-43034200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr3:43032200-43034400	Enhancers	Brain Anterior Caudate	brain
19	chr3:43032400-43033400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:43032400-43033800	Enhancers	Fetal Muscle Leg	muscle
21	chr3:43032400-43034200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:43032400-43034200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr3:43032400-43034200	Enhancers	Brain Angular Gyrus	brain
24	chr3:43032400-43034600	Enhancers	Brain Cingulate Gyrus	brain
25	chr3:43032600-43034600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:43032600-43034600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:43032600-43040800	Weak transcription	Placenta	Placenta
28	chr3:43032800-43033200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr3:43032800-43033800	Enhancers	Stomach Smooth Muscle	stomach
30	chr3:43032800-43034000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:43032800-43034200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr3:43032800-43034200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:43032800-43034600	Enhancers	Brain Substantia Nigra	brain
34	chr3:43033000-43033200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr3:43033000-43033200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:43033000-43033200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:43033000-43033400	Enhancers	Pancreas	Pancrea
38	chr3:43033000-43033400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr3:43033000-43033800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:43033000-43033800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:43033000-43034000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:43033000-43034000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:43033000-43034000	Enhancers	Ovary	ovary
44	chr3:43033000-43034200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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