Variant report

Variant	rs994419
Chromosome Location	chr2:40512023-40512024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1002671	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10490053	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11891800	1.00[GIH][hapmap];0.85[TSI][hapmap]
rs11902975	0.89[CHB][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12995402	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13001457	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13001473	0.88[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs13005761	0.95[CHB][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs13026979	1.00[ASN][1000 genomes]
rs13031392	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[MEX][hapmap]
rs17025769	0.93[ASN][1000 genomes]
rs17025783	0.85[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17025800	0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs17025804	0.88[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17025810	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1990607	0.82[ASN][1000 genomes]
rs2192769	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2192770	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2192771	0.89[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.92[ASN][1000 genomes]
rs2287051	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2287053	0.86[ASN][1000 genomes]
rs34409901	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34512805	0.86[ASN][1000 genomes]
rs34562238	0.83[ASN][1000 genomes]
rs34609846	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35042618	0.83[ASN][1000 genomes]
rs35264779	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35639785	0.86[ASN][1000 genomes]
rs35776185	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35892964	0.86[ASN][1000 genomes]
rs35970998	0.82[ASN][1000 genomes]
rs35977357	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4952403	0.86[ASN][1000 genomes]
rs4952404	0.89[CHB][hapmap];0.81[MEX][hapmap]
rs4952603	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4952604	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4952605	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4952607	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4952608	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56707698	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62150808	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62150809	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62150812	0.86[ASN][1000 genomes]
rs66566834	0.86[ASN][1000 genomes]
rs6729923	0.86[ASN][1000 genomes]
rs6730154	0.89[CHB][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs68003012	0.83[ASN][1000 genomes]
rs72796683	0.86[ASN][1000 genomes]
rs72796684	0.86[ASN][1000 genomes]
rs741287	0.84[CHB][hapmap]
rs759387	0.82[CEU][hapmap];0.84[CHB][hapmap];0.93[MEX][hapmap]
rs994420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3343138	chr2:40510648-40512796	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40500200-40514600	Weak transcription	Fetal Brain Male	brain
2	chr2:40503600-40514800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:40506400-40516800	Weak transcription	Small Intestine	intestine
4	chr2:40506600-40514600	Weak transcription	Brain Germinal Matrix	brain
5	chr2:40506800-40517200	Weak transcription	Dnd41	blood
6	chr2:40508000-40517200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:40509000-40514800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:40509000-40519400	Weak transcription	Fetal Stomach	stomach
9	chr2:40509200-40512600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:40509200-40517200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:40510000-40513600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:40510200-40512800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:40510200-40513800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:40510200-40514000	Weak transcription	NH-A	brain
15	chr2:40510200-40514200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:40510200-40514800	Weak transcription	Right Atrium	heart
17	chr2:40510600-40514800	Genic enhancers	Fetal Heart	heart
18	chr2:40510800-40512800	Enhancers	HSMM	muscle
19	chr2:40510800-40513800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:40511000-40512200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:40511000-40512200	Weak transcription	Brain Substantia Nigra	brain
22	chr2:40511000-40512400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:40511000-40513800	Weak transcription	NHEK	skin
24	chr2:40511000-40514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:40511000-40514000	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:40511000-40514000	Weak transcription	NHLF	lung
27	chr2:40511000-40514600	Weak transcription	Aorta	Aorta
28	chr2:40511000-40514800	Weak transcription	Right Ventricle	heart
29	chr2:40511200-40512200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:40511200-40512200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:40511200-40513800	Weak transcription	Left Ventricle	heart
32	chr2:40511200-40514600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:40511400-40512600	Enhancers	HSMMtube	muscle
34	chr2:40511400-40512800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:40511600-40512200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:40511800-40512400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:40511800-40512400	Enhancers	Brain Anterior Caudate	brain
38	chr2:40511800-40512600	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:40511800-40512800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:40511800-40515400	Enhancers	Colon Smooth Muscle	Colon
41	chr2:40512000-40512200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:40512000-40512200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:40512000-40512200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:40512000-40512200	Enhancers	Ovary	ovary
45	chr2:40512000-40512200	Enhancers	Psoas Muscle	Psoas
46	chr2:40512000-40512600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:40512000-40512800	Enhancers	Rectal Smooth Muscle	rectum
48	chr2:40512000-40512800	Enhancers	NHDF-Ad	bronchial
49	chr2:40512000-40513000	Enhancers	Osteobl	bone
50	chr2:40512000-40514800	Strong transcription	Monocytes-CD14+_RO01746	blood

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