Variant report

Variant	rs4952469
Chromosome Location	chr2:40358637-40358638
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10177338	0.87[ASN][1000 genomes]
rs10183046	0.87[ASN][1000 genomes]
rs11685090	0.84[EUR][1000 genomes]
rs13402735	0.85[ASN][1000 genomes]
rs13405865	0.85[ASN][1000 genomes]
rs13433080	0.85[ASN][1000 genomes]
rs2006286	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2006287	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2110921	0.85[ASN][1000 genomes]
rs2110922	0.83[EUR][1000 genomes]
rs4140823	0.86[ASN][1000 genomes]
rs5543	0.81[ASN][1000 genomes]
rs6544310	0.82[ASN][1000 genomes]
rs6544311	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67997642	0.85[ASN][1000 genomes]
rs72935262	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7573537	0.82[EUR][1000 genomes]
rs765554	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs765555	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs918046	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873903	chr2:40285145-40382712	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv873905	chr2:40341847-40364895	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv873906	chr2:40341847-40385045	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv873907	chr2:40349094-40381369	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv1005758	chr2:40349403-40381369	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv873908	chr2:40351453-40371095	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv873909	chr2:40358526-40371095	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40328000-40365600	Weak transcription	Brain Germinal Matrix	brain
2	chr2:40349800-40359600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:40351600-40360400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:40354400-40358800	Enhancers	Rectal Smooth Muscle	rectum
5	chr2:40354600-40366600	Weak transcription	Lung	lung
6	chr2:40355000-40366200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:40355400-40383800	Weak transcription	Small Intestine	intestine
8	chr2:40355800-40365600	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:40355800-40370000	Weak transcription	Fetal Brain Male	brain
10	chr2:40356000-40367400	Weak transcription	Fetal Brain Female	brain
11	chr2:40356800-40359000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:40356800-40375000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:40357000-40359000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:40357600-40358800	Flanking Active TSS	Fetal Heart	heart
15	chr2:40357600-40359000	Enhancers	Right Ventricle	heart
16	chr2:40357600-40374000	Weak transcription	HSMMtube	muscle
17	chr2:40357800-40358800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:40357800-40366200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:40357800-40366200	Weak transcription	Fetal Stomach	stomach
20	chr2:40357800-40366600	Weak transcription	Brain Anterior Caudate	brain
21	chr2:40357800-40406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:40358000-40359000	Strong transcription	Dnd41	blood
23	chr2:40358000-40364000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:40358000-40365600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:40358000-40365600	Weak transcription	Aorta	Aorta
26	chr2:40358000-40392200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:40358200-40364800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:40358200-40365400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:40358200-40366000	Weak transcription	Osteobl	bone
30	chr2:40358200-40392200	Weak transcription	NHLF	lung
31	chr2:40358400-40359000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:40358400-40359000	Strong transcription	HSMM	muscle
33	chr2:40358400-40359600	Enhancers	Ovary	ovary
34	chr2:40358600-40358800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:40358600-40358800	Enhancers	Right Atrium	heart
36	chr2:40358600-40359000	Enhancers	Left Ventricle	heart
37	chr2:40358600-40363200	Weak transcription	Colon Smooth Muscle	Colon

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