Variant report

Variant	rs10473308
Chromosome Location	chr5:43371183-43371184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43368792..43371190-chr5:43484228..43486800,2	K562	blood:
2	chr5:43352697..43356285-chr5:43368873..43371600,3	K562	blood:
3	chr5:43312260..43314488-chr5:43370514..43372916,2	K562	blood:

Variant related genes	Relation type
ENSG00000112972	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10037409	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10037706	1.00[CEU][hapmap]
rs10038859	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10040897	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10043148	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10052384	1.00[EUR][1000 genomes]
rs10054415	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10056437	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10062031	1.00[EUR][1000 genomes]
rs10062121	1.00[EUR][1000 genomes]
rs10062598	1.00[CEU][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10064967	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10067763	1.00[CEU][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes]
rs10069507	1.00[CEU][hapmap]
rs10077324	0.86[EUR][1000 genomes]
rs10079530	0.86[EUR][1000 genomes]
rs10472379	0.86[EUR][1000 genomes]
rs10473306	1.00[CEU][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes]
rs11955467	0.86[EUR][1000 genomes]
rs1478436	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16874093	1.00[CEU][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16874094	1.00[CEU][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes]
rs28450849	1.00[EUR][1000 genomes]
rs28608156	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28856961	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4326149	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55645370	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60520238	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6865440	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6884349	1.00[CEU][hapmap];0.95[YRI][hapmap];0.86[EUR][1000 genomes]
rs6892413	1.00[EUR][1000 genomes]
rs6893898	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6894240	1.00[CEU][hapmap]
rs6895237	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs7356654	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7356727	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751075	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73751078	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73751082	1.00[EUR][1000 genomes]
rs73751083	1.00[EUR][1000 genomes]
rs7710717	1.00[CEU][hapmap];0.84[YRI][hapmap];0.86[EUR][1000 genomes]
rs7715267	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7729140	1.00[CEU][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes]
rs7729145	1.00[CEU][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes]
rs7733732	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9292869	1.00[CEU][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9292870	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9292872	1.00[CEU][hapmap];0.84[YRI][hapmap];0.86[EUR][1000 genomes]
rs9292875	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43366600-43372400	Enhancers	Fetal Intestine Large	intestine
2	chr5:43366600-43372400	Enhancers	Fetal Intestine Small	intestine
3	chr5:43367200-43386400	Weak transcription	Pancreas	Pancrea
4	chr5:43367400-43376600	Weak transcription	Colonic Mucosa	Colon
5	chr5:43367600-43376000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:43368200-43376400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:43368400-43381600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:43368600-43376600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:43368600-43389800	Weak transcription	Stomach Mucosa	stomach
10	chr5:43368800-43396400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:43369000-43376400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:43369000-43387000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:43369200-43386800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:43370000-43396200	Weak transcription	Primary B cells from cord blood	blood
15	chr5:43370200-43376200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:43370200-43376400	Weak transcription	Primary T cells from cord blood	blood
17	chr5:43370400-43372400	Enhancers	K562	blood
18	chr5:43370400-43377200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:43370600-43376200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr5:43371000-43379000	Weak transcription	Primary T cells fromperipheralblood	blood

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