Variant report

Variant	rs3827344
Chromosome Location	chr22:34252412-34252413
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1009385	1.00[ASW][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11089633	0.85[JPT][hapmap]
rs12483818	0.82[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.86[ASN][1000 genomes]
rs13053314	0.85[ASN][1000 genomes]
rs13054983	0.84[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13058342	0.82[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.85[ASN][1000 genomes]
rs16993143	0.81[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs16993180	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267299	0.83[CHD][hapmap];0.85[JPT][hapmap]
rs2267301	0.82[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs2267308	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.96[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2283950	0.85[JPT][hapmap]
rs34573078	0.84[ASN][1000 genomes]
rs3819667	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs4820120	0.83[YRI][hapmap];0.87[ASN][1000 genomes]
rs67503539	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67714362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68063018	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762836	0.82[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.85[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	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv524156	chr22:34145596-34260738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv529886	chr22:34153740-34258847	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34247800-34263000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:34250000-34254000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:34250000-34254000	Weak transcription	Spleen	Spleen
4	chr22:34250000-34256600	Weak transcription	Lung	lung
5	chr22:34250000-34256600	Weak transcription	Pancreas	Pancrea
6	chr22:34250000-34256800	Weak transcription	Gastric	stomach
7	chr22:34250000-34260400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:34250000-34261000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr22:34250200-34252800	Weak transcription	Primary B cells from cord blood	blood
10	chr22:34250200-34255600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:34250200-34256600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr22:34250200-34256800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr22:34250400-34255400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr22:34250400-34256600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:34250400-34256600	Weak transcription	Right Atrium	heart
16	chr22:34250600-34252600	Enhancers	Left Ventricle	heart
17	chr22:34250600-34255600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:34250600-34257200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr22:34250600-34260000	Weak transcription	Fetal Intestine Small	intestine
20	chr22:34250600-34260400	Weak transcription	NHLF	lung
21	chr22:34250600-34260600	Weak transcription	Colon Smooth Muscle	Colon
22	chr22:34250800-34255400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr22:34250800-34255400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr22:34250800-34255600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr22:34250800-34255600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr22:34250800-34261000	Weak transcription	Fetal Brain Male	brain
27	chr22:34251000-34252800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr22:34251000-34253200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:34251000-34254000	Weak transcription	Fetal Stomach	stomach
30	chr22:34251000-34255400	Weak transcription	Brain Angular Gyrus	brain
31	chr22:34251000-34255400	Weak transcription	Brain Hippocampus Middle	brain
32	chr22:34251000-34257000	Weak transcription	Brain Anterior Caudate	brain
33	chr22:34251000-34257200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr22:34251000-34259000	Weak transcription	Fetal Intestine Large	intestine
35	chr22:34251000-34259200	Weak transcription	GM12878-XiMat	blood
36	chr22:34251000-34260400	Weak transcription	Brain Substantia Nigra	brain
37	chr22:34251000-34260400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr22:34251000-34269200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:34251200-34252800	Enhancers	Right Ventricle	heart
40	chr22:34251200-34268000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr22:34251600-34255600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr22:34251600-34256600	Weak transcription	Ovary	ovary
43	chr22:34251600-34256800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr22:34252000-34255400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr22:34252400-34252600	Enhancers	Fetal Muscle Leg	muscle
46	chr22:34252400-34253400	Enhancers	Fetal Heart	heart
47	chr22:34252400-34267600	Weak transcription	Primary B cells from peripheral blood	blood

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