Variant report

Variant	rs10152004
Chromosome Location	chr14:56619187-56619188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56617611..56619995-chr14:56685329..56687097,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1152464	0.92[CHB][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap]
rs1152466	0.84[CHB][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap]
rs12589933	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap]
rs1382974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs1382977	0.81[JPT][hapmap]
rs17091062	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.87[TSI][hapmap]
rs17091112	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17091123	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17091196	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap]
rs2228708	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2297610	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs242581	0.91[JPT][hapmap]
rs3783659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs385141	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs3898605	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4636823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.97[ASN][1000 genomes]
rs58116791	0.81[ASN][1000 genomes]
rs6573085	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7141484	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7141889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7141949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7143560	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs7152487	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7161103	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7161274	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs754314	1.00[CEU][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap]
rs8011852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs8014574	1.00[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap]

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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10152004	SLC35F4	cis	cerebellum	SCAN
rs10152004	STYX	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56611400-56620000	Enhancers	Colon Smooth Muscle	Colon
2	chr14:56613200-56620000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:56613400-56620000	Weak transcription	HUVEC	blood vessel
4	chr14:56613600-56619800	Enhancers	Fetal Brain Male	brain
5	chr14:56613800-56619400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:56615000-56620000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:56615400-56626800	Weak transcription	Left Ventricle	heart
8	chr14:56615600-56621000	Weak transcription	Small Intestine	intestine
9	chr14:56615600-56639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:56615800-56623200	Weak transcription	Spleen	Spleen
11	chr14:56615800-56625800	Weak transcription	Lung	lung
12	chr14:56615800-56626800	Weak transcription	Stomach Mucosa	stomach
13	chr14:56616000-56625800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:56616200-56621000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:56616200-56621200	Weak transcription	Aorta	Aorta
16	chr14:56616200-56626000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr14:56616800-56640200	Weak transcription	Fetal Stomach	stomach
18	chr14:56617200-56620200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:56617200-56627000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:56617600-56619800	Enhancers	Fetal Brain Female	brain
21	chr14:56617600-56623000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:56617800-56619800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:56617800-56620400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:56617800-56623000	Weak transcription	Fetal Lung	lung
25	chr14:56618000-56620400	Weak transcription	Brain Germinal Matrix	brain
26	chr14:56618000-56629200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:56618200-56619800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:56618200-56626400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:56618200-56627000	Weak transcription	Gastric	stomach
30	chr14:56618400-56619200	Weak transcription	Thymus	Thymus
31	chr14:56618600-56620600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:56618800-56619200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr14:56618800-56619400	Enhancers	Brain Cingulate Gyrus	brain
34	chr14:56618800-56620200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr14:56618800-56621000	Weak transcription	Primary T cells from cord blood	blood
36	chr14:56618800-56626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:56619000-56619800	Enhancers	Brain Substantia Nigra	brain
38	chr14:56619000-56621000	Weak transcription	Fetal Thymus	thymus
39	chr14:56619000-56621000	Weak transcription	Pancreas	Pancrea
40	chr14:56619000-56624200	Enhancers	Dnd41	blood
41	chr14:56619000-56625800	Weak transcription	Ovary	ovary

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