Variant report

Variant	rs9348922
Chromosome Location	chr6:33596641-33596642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33596598..33599064-chr6:33678282..33680140,2	K562	blood:
2	chr6:33587934..33590771-chr6:33596242..33598173,4	MCF-7	breast:
3	chr6:33594027..33596927-chr6:33599242..33602574,3	MCF-7	breast:
4	chr6:33595746..33598066-chr6:33631456..33633008,2	K562	blood:
5	chr6:33591444..33593471-chr6:33595633..33598243,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000096433	Chromatin interaction
ENSG00000137288	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12662525	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3916279	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs407415	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs434026	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs444697	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4713646	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55642707	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55792355	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7768202	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348921	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9368768	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9368769	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9469532	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
3	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33590200-33600600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:33590400-33600200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:33590400-33600400	Weak transcription	Psoas Muscle	Psoas
4	chr6:33591000-33599000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:33591000-33600000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:33591000-33600200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:33591000-33600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:33591000-33600600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:33591000-33600600	Weak transcription	Osteobl	bone
10	chr6:33591200-33600800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:33591600-33598200	Weak transcription	Right Ventricle	heart
12	chr6:33591800-33597800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:33591800-33600200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:33592000-33596800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:33592000-33600200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:33592000-33600400	Genic enhancers	Fetal Intestine Small	intestine
17	chr6:33592200-33597000	Genic enhancers	Fetal Intestine Large	intestine
18	chr6:33592200-33598000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:33592200-33600000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:33592200-33600600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:33592400-33598000	Weak transcription	Fetal Thymus	thymus
22	chr6:33592400-33598800	Genic enhancers	Hela-S3	cervix
23	chr6:33592400-33600400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:33592600-33599800	Weak transcription	Pancreas	Pancrea
25	chr6:33592600-33600200	Weak transcription	HepG2	liver
26	chr6:33592600-33600800	Weak transcription	HUVEC	blood vessel
27	chr6:33592800-33596800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:33593000-33596800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:33593000-33600200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:33594400-33600200	Weak transcription	NHLF	lung
31	chr6:33594600-33598000	Weak transcription	Fetal Stomach	stomach
32	chr6:33594600-33598000	Weak transcription	Lung	lung
33	chr6:33595000-33600400	Enhancers	Stomach Mucosa	stomach
34	chr6:33595200-33600600	Genic enhancers	NHEK	skin
35	chr6:33595400-33596800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:33595400-33596800	Enhancers	Colonic Mucosa	Colon
37	chr6:33595400-33596800	Enhancers	Fetal Muscle Leg	muscle
38	chr6:33595400-33596800	Enhancers	GM12878-XiMat	blood
39	chr6:33595400-33597000	Enhancers	Fetal Lung	lung
40	chr6:33595400-33597200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:33595600-33596800	Enhancers	Esophagus	oesophagus
42	chr6:33595600-33596800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr6:33595600-33597000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:33595600-33599800	Weak transcription	HMEC	breast
45	chr6:33595600-33600200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:33595600-33600200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:33595800-33596800	Enhancers	Placenta	Placenta
48	chr6:33595800-33596800	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr6:33595800-33598800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr6:33595800-33600200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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