Variant report

Variant	rs1580993
Chromosome Location	chr2:189450480-189450481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10931369	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931376	0.87[EUR][1000 genomes]
rs11676859	0.84[EUR][1000 genomes]
rs11683089	0.99[EUR][1000 genomes]
rs11683183	0.99[EUR][1000 genomes]
rs11695316	1.00[ASN][1000 genomes]
rs11889220	0.94[EUR][1000 genomes]
rs11889402	0.80[EUR][1000 genomes]
rs12463744	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476413	0.84[ASN][1000 genomes]
rs12988921	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13011602	0.87[EUR][1000 genomes]
rs13012993	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386581	1.00[ASN][1000 genomes]
rs13393057	1.00[ASN][1000 genomes]
rs13396968	0.94[ASN][1000 genomes]
rs13412448	1.00[ASN][1000 genomes]
rs13413644	1.00[ASN][1000 genomes]
rs13413752	1.00[ASN][1000 genomes]
rs13424809	0.89[ASN][1000 genomes]
rs1354902	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1354904	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1354908	0.98[EUR][1000 genomes]
rs1354910	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1395868	0.87[EUR][1000 genomes]
rs1507551	1.00[ASN][1000 genomes]
rs1507560	0.96[EUR][1000 genomes]
rs1507561	1.00[EUR][1000 genomes]
rs1567184	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1911602	0.91[EUR][1000 genomes]
rs1911603	0.86[EUR][1000 genomes]
rs2350903	0.96[EUR][1000 genomes]
rs3935690	0.81[EUR][1000 genomes]
rs4146570	0.96[EUR][1000 genomes]
rs4591284	0.95[EUR][1000 genomes]
rs61045757	0.94[ASN][1000 genomes]
rs66641143	0.94[ASN][1000 genomes]
rs6707212	0.84[ASN][1000 genomes]
rs6708451	0.99[EUR][1000 genomes]
rs6727633	0.84[ASN][1000 genomes]
rs67425558	0.84[ASN][1000 genomes]
rs7568147	0.84[ASN][1000 genomes]
rs7596299	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8273	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955813	0.87[EUR][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	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189414600-189453600	Weak transcription	HUVEC	blood vessel
2	chr2:189420200-189454800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:189420600-189463200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:189426600-189456200	Weak transcription	Gastric	stomach
5	chr2:189431400-189463200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:189433600-189456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:189433600-189459400	Weak transcription	Psoas Muscle	Psoas
8	chr2:189434400-189463200	Weak transcription	Fetal Intestine Large	intestine
9	chr2:189434400-189465000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:189436400-189463200	Weak transcription	Ovary	ovary
11	chr2:189437000-189454400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:189440600-189452400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:189442600-189452600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:189443800-189464000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:189445800-189460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:189445800-189463400	Weak transcription	NHLF	lung
17	chr2:189446200-189461000	Weak transcription	Adipose Nuclei	Adipose
18	chr2:189448200-189450800	Weak transcription	Esophagus	oesophagus
19	chr2:189448600-189459800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:189448800-189450600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:189448800-189450600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:189448800-189453600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:189449000-189450600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr2:189449000-189450600	Strong transcription	Fetal Intestine Small	intestine
25	chr2:189449000-189451200	Strong transcription	Placenta	Placenta
26	chr2:189449600-189450600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr2:189449600-189450600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr2:189449600-189450600	Strong transcription	Fetal Lung	lung
29	chr2:189449600-189450800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:189449800-189450600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:189449800-189450600	ZNF genes & repeats	Fetal Stomach	stomach
32	chr2:189449800-189450800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:189450000-189450600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:189450000-189450600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:189450000-189451000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:189450200-189456200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:189450200-189459400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:189450200-189463800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:189450400-189455400	Weak transcription	Pancreas	Pancrea
40	chr2:189450400-189456400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:189450400-189456800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:189450400-189462000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:189450400-189463200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:189450400-189470600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:189450400-189475000	Weak transcription	Aorta	Aorta

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