Variant report

Variant	rs765554
Chromosome Location	chr2:40358175-40358176
allele	A/G
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:21)

rs_ID	r²[population]
rs10167639	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs10177338	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10183046	0.96[ASN][1000 genomes]
rs11684633	0.84[ASN][1000 genomes]
rs11685090	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13385233	0.85[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs13402735	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs13426771	0.86[ASN][1000 genomes]
rs2006286	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2006287	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2058693	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2110921	0.91[CHB][hapmap];0.96[JPT][hapmap];0.91[ASN][1000 genomes]
rs2110922	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs409620	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs4140823	0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4952469	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6544311	0.90[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72935262	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7573537	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs765555	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs918046	0.95[CHB][hapmap];0.96[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40328000-40365600	Weak transcription	Brain Germinal Matrix	brain
2	chr2:40349800-40358200	Enhancers	Osteobl	bone
3	chr2:40349800-40359600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:40351000-40358200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:40351600-40360400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:40354000-40358600	Enhancers	Colon Smooth Muscle	Colon
7	chr2:40354400-40358800	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:40354600-40366600	Weak transcription	Lung	lung
9	chr2:40355000-40366200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:40355400-40383800	Weak transcription	Small Intestine	intestine
11	chr2:40355800-40365600	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:40355800-40370000	Weak transcription	Fetal Brain Male	brain
13	chr2:40356000-40367400	Weak transcription	Fetal Brain Female	brain
14	chr2:40356600-40358400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:40356800-40358200	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:40356800-40358200	Enhancers	NHLF	lung
17	chr2:40356800-40359000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:40356800-40375000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:40357000-40358200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:40357000-40359000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:40357200-40358400	Weak transcription	Right Atrium	heart
22	chr2:40357400-40358600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:40357600-40358200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:40357600-40358800	Flanking Active TSS	Fetal Heart	heart
25	chr2:40357600-40359000	Enhancers	Right Ventricle	heart
26	chr2:40357600-40374000	Weak transcription	HSMMtube	muscle
27	chr2:40357800-40358400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:40357800-40358600	Weak transcription	Left Ventricle	heart
29	chr2:40357800-40358800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:40357800-40366200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:40357800-40366200	Weak transcription	Fetal Stomach	stomach
32	chr2:40357800-40366600	Weak transcription	Brain Anterior Caudate	brain
33	chr2:40357800-40406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:40358000-40358400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:40358000-40358400	Weak transcription	Ovary	ovary
36	chr2:40358000-40358400	Weak transcription	HSMM	muscle
37	chr2:40358000-40359000	Strong transcription	Dnd41	blood
38	chr2:40358000-40364000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:40358000-40365600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:40358000-40365600	Weak transcription	Aorta	Aorta
41	chr2:40358000-40392200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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