Variant report

Variant	rs448517
Chromosome Location	chr2:40374912-40374913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10205502	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10208777	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10221571	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11688023	0.88[CEU][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2110923	1.00[JPT][hapmap]
rs2110925	1.00[JPT][hapmap]
rs2110927	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2160364	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2160365	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2373794	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs417614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs429648	0.81[JPT][hapmap]
rs432188	0.81[JPT][hapmap]
rs435923	0.95[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs444999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4614975	1.00[CEU][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs4952490	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4952491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4952499	0.85[EUR][1000 genomes]
rs6739058	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6746919	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6755509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7572256	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs759444	0.81[JPT][hapmap]
rs985991	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40355400-40383800	Weak transcription	Small Intestine	intestine
2	chr2:40356800-40375000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr2:40357800-40406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:40358000-40392200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:40358200-40392200	Weak transcription	NHLF	lung
6	chr2:40358800-40389200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:40359000-40387400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:40361000-40375000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:40364200-40377400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:40364400-40383800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:40364600-40375000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:40364600-40387000	Weak transcription	Placenta	Placenta
13	chr2:40364800-40380400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:40365200-40396200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:40366600-40403000	Weak transcription	Brain Germinal Matrix	brain
16	chr2:40366800-40376800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:40366800-40382800	Weak transcription	Right Ventricle	heart
18	chr2:40366800-40383000	Weak transcription	Aorta	Aorta
19	chr2:40366800-40387200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:40366800-40391800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:40367000-40382800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:40367000-40384400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:40368400-40377400	Weak transcription	Brain Anterior Caudate	brain
24	chr2:40368600-40383000	Weak transcription	Fetal Brain Female	brain
25	chr2:40368600-40383800	Weak transcription	Osteobl	bone
26	chr2:40368800-40376800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:40369000-40381000	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:40369200-40382800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:40369600-40391600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:40370600-40376800	Weak transcription	Fetal Brain Male	brain
31	chr2:40371400-40375400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:40371600-40375200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:40371800-40377400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:40371800-40391800	Weak transcription	NHDF-Ad	bronchial
35	chr2:40372000-40378400	Strong transcription	Dnd41	blood
36	chr2:40372400-40376600	Weak transcription	Fetal Thymus	thymus
37	chr2:40373000-40377000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:40373000-40377200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:40374000-40375000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:40374000-40375600	Enhancers	HSMMtube	muscle
41	chr2:40374000-40384400	Weak transcription	Fetal Stomach	stomach
42	chr2:40374200-40375000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:40374400-40377800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr2:40374400-40378600	Genic enhancers	Fetal Heart	heart
45	chr2:40374600-40375600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:40374800-40375000	Enhancers	Fetal Muscle Leg	muscle
47	chr2:40374800-40375600	Genic enhancers	HSMM	muscle
48	chr2:40374800-40375800	Weak transcription	Left Ventricle	heart
49	chr2:40374800-40377000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:40374800-40377200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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