Variant report

Variant	rs1476941
Chromosome Location	chr2:20585766-20585767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10209568	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11901184	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12464277	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12466143	0.80[EUR][1000 genomes]
rs12471293	0.83[EUR][1000 genomes]
rs12477228	0.80[EUR][1000 genomes]
rs1985318	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1985319	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2348705	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs343138	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs343140	0.89[ASN][1000 genomes]
rs343142	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs343144	0.93[ASN][1000 genomes]
rs343147	0.92[ASN][1000 genomes]
rs343152	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4666306	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4666386	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666387	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666389	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4666390	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62124612	0.89[ASN][1000 genomes]
rs6531236	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705947	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6734065	0.83[EUR][1000 genomes]
rs67464308	0.83[EUR][1000 genomes]
rs67511352	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs725490	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7563890	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7564799	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7564810	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7576439	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7576806	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7603518	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7604195	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs953927	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv581165	chr2:20581058-20616990	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20579400-20586000	Weak transcription	NHDF-Ad	bronchial
2	chr2:20579400-20586200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:20579400-20586200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:20579400-20586400	Weak transcription	Osteobl	bone
5	chr2:20581200-20586200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:20581200-20586600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:20581600-20586200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:20581600-20586400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:20581600-20587400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:20581600-20601000	Weak transcription	Right Atrium	heart
11	chr2:20581800-20586400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:20582600-20586000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:20582800-20586400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:20583200-20586000	Weak transcription	A549	lung
15	chr2:20583200-20586200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:20583400-20587200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:20583600-20587200	Weak transcription	NHEK	skin
18	chr2:20584400-20585800	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:20584600-20586400	Enhancers	Small Intestine	intestine
20	chr2:20585000-20586600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:20585400-20585800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr2:20585400-20586600	Enhancers	Colonic Mucosa	Colon
23	chr2:20585400-20586600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr2:20585400-20587200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:20585600-20586400	Enhancers	Placenta	Placenta
26	chr2:20585600-20586600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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