Variant report

Variant	rs7330330
Chromosome Location	chr13:95692397-95692398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95691490..95693679-chr13:95696087..95697693,2	K562	blood:

Variant related genes	Relation type
ENSG00000125257	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1189433	0.82[CEU][hapmap]
rs1189434	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs1189435	0.82[CEU][hapmap];0.87[TSI][hapmap]
rs1189436	0.82[CEU][hapmap];0.87[TSI][hapmap]
rs1189437	0.82[CEU][hapmap];0.87[TSI][hapmap]
rs1189438	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs1189439	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs1189441	0.94[EUR][1000 genomes]
rs1189461	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs1189462	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs1189466	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs1678339	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs1678351	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs1678353	0.82[CEU][hapmap]
rs1678362	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs1678365	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs1678387	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs1678409	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs1729745	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs1729752	0.82[CEU][hapmap]
rs1751036	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs1751037	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs1751042	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs1751043	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs1751055	0.82[CEU][hapmap]
rs1751057	0.82[CEU][hapmap];0.87[TSI][hapmap]
rs2766475	0.82[ASW][hapmap];0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs2950957	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs4148540	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5016378	0.94[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs7331488	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs943289	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs9561765	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832688	chr13:95633193-95780198	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv525194	chr13:95672950-95737192	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95655600-95722600	Weak transcription	Gastric	stomach
2	chr13:95661400-95694000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:95668600-95712000	Weak transcription	NHDF-Ad	bronchial
4	chr13:95669400-95723200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr13:95669600-95744000	Weak transcription	Small Intestine	intestine
6	chr13:95671400-95722200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr13:95672800-95729000	Weak transcription	Colonic Mucosa	Colon
8	chr13:95673200-95693200	Weak transcription	Primary T cells from cord blood	blood
9	chr13:95675400-95693600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:95676000-95740000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:95677400-95693600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:95677800-95695400	Weak transcription	K562	blood
13	chr13:95677800-95718200	Weak transcription	HSMM	muscle
14	chr13:95678400-95694200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:95680000-95705000	Weak transcription	Colon Smooth Muscle	Colon
16	chr13:95680200-95693800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr13:95682000-95693200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:95682000-95699200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr13:95682000-95718200	Weak transcription	Pancreas	Pancrea
20	chr13:95682800-95721800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:95683200-95751800	Weak transcription	Fetal Lung	lung
22	chr13:95683800-95725800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr13:95684200-95695200	Weak transcription	Osteobl	bone
24	chr13:95684400-95728200	Weak transcription	Adipose Nuclei	Adipose
25	chr13:95684600-95725400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr13:95685000-95694600	Weak transcription	Left Ventricle	heart
27	chr13:95685000-95696200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:95685000-95721400	Weak transcription	Fetal Intestine Small	intestine
29	chr13:95685200-95695600	Weak transcription	Fetal Kidney	kidney
30	chr13:95685200-95734600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr13:95686200-95694400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:95686800-95698000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:95686800-95702000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr13:95686800-95702400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr13:95686800-95722600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:95686800-95744600	Weak transcription	Esophagus	oesophagus
37	chr13:95687000-95693200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr13:95687000-95693400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:95687000-95693600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr13:95687000-95722600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr13:95688200-95694200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr13:95688600-95711400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr13:95689600-95696800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:95690200-95695400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr13:95690600-95695800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr13:95690800-95692400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:95690800-95692600	Strong transcription	GM12878-XiMat	blood
48	chr13:95690800-95694800	Strong transcription	NHLF	lung
49	chr13:95690800-95695200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr13:95691000-95694200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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