Variant report

Variant	rs1009385
Chromosome Location	chr22:34249434-34249435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:34248240..34252170-chr22:34315347..34319641,4	MCF-7	breast:
2	chr22:34248614..34251924-chr22:34259957..34262591,3	MCF-7	breast:
3	chr22:34248231..34249994-chr22:34261049..34263874,2	MCF-7	breast:
4	chr22:34246562..34250566-chr22:34253925..34258689,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273082	Chromatin interaction
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11089633	0.85[JPT][hapmap]
rs12483818	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13053314	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13054983	0.86[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs13058342	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16993143	1.00[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16993180	0.81[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2267299	0.83[CHD][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2267301	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2267308	0.92[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.88[MKK][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2283950	0.85[JPT][hapmap]
rs34573078	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3819667	0.94[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3827344	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]
rs4820120	1.00[CEU][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67503539	0.90[ASN][1000 genomes]
rs67714362	0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs68063018	0.92[ASN][1000 genomes]
rs762836	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1009385	LARGE	cis	Artery Tibial	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34243200-34250800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr22:34244800-34249600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:34245800-34249600	Enhancers	Fetal Intestine Large	intestine
4	chr22:34246000-34249600	Enhancers	Fetal Intestine Small	intestine
5	chr22:34246200-34249600	Enhancers	Fetal Heart	heart
6	chr22:34246800-34249600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr22:34247000-34249600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr22:34247400-34249600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr22:34247400-34249600	Weak transcription	Gastric	stomach
10	chr22:34247400-34249800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr22:34247400-34250400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr22:34247600-34249600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr22:34247600-34249600	Weak transcription	Fetal Brain Female	brain
14	chr22:34247800-34249600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr22:34247800-34249600	Weak transcription	Lung	lung
16	chr22:34247800-34263000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:34248000-34249600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:34248000-34249600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:34248000-34250600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr22:34248400-34249600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:34248400-34249600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:34248600-34250000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:34248800-34250200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr22:34249000-34249600	Enhancers	Fetal Brain Male	brain
25	chr22:34249000-34249600	Enhancers	Fetal Kidney	kidney
26	chr22:34249000-34249600	Enhancers	Fetal Lung	lung
27	chr22:34249000-34249600	Enhancers	Fetal Stomach	stomach
28	chr22:34249000-34249600	Enhancers	Left Ventricle	heart
29	chr22:34249000-34249600	Enhancers	Right Ventricle	heart
30	chr22:34249000-34249800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr22:34249000-34250000	Enhancers	Small Intestine	intestine
32	chr22:34249000-34250600	Enhancers	Primary B cells from peripheral blood	blood
33	chr22:34249200-34249600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:34249200-34249600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr22:34249200-34249600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr22:34249200-34249600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr22:34249200-34249600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr22:34249200-34249600	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr22:34249200-34249600	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr22:34249200-34249600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr22:34249200-34249600	Enhancers	Esophagus	oesophagus
42	chr22:34249200-34249600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr22:34249200-34249600	Enhancers	Placenta	Placenta
44	chr22:34249200-34249600	Enhancers	Pancreas	Pancrea
45	chr22:34249200-34249600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr22:34249200-34249600	Enhancers	Thymus	Thymus
47	chr22:34249200-34249600	Enhancers	HepG2	liver
48	chr22:34249200-34249600	Flanking Active TSS	Osteobl	bone
49	chr22:34249200-34249800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr22:34249200-34249800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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