Variant report

Variant	rs4245351
Chromosome Location	chr13:49876171-49876172
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49875221..49876253-chr13:50010820..50011928,3	K562	blood:
2	chr13:49874891..49877806-chr13:49883558..49885352,2	K562	blood:
3	chr13:49870307..49873739-chr13:49874898..49876503,3	K562	blood:
4	chr13:49871430..49873308-chr13:49873892..49876878,2	MCF-7	breast:
5	chr13:49875534..49877037-chr13:50068961..50071694,2	K562	blood:
6	chr13:49867730..49869911-chr13:49874326..49876304,2	K562	blood:

Variant related genes	Relation type
ENSG00000136147	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10459375	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10459376	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11838927	0.83[EUR][1000 genomes]
rs11843587	0.88[EUR][1000 genomes]
rs12385878	0.81[EUR][1000 genomes]
rs12585196	0.96[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1555672	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs1924659	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1924660	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1924661	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2038759	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2147398	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2181905	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2274149	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274150	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2407521	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2407607	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2407608	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2407609	0.92[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3087770	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3764131	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4941637	1.00[CEU][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4942809	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4942811	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4942812	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4942815	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6561511	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs719614	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7320595	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7320745	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7326181	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7326191	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7328063	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7330892	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7334929	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7984689	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7988621	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7991918	0.80[ASN][1000 genomes]
rs7997545	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7999710	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9316434	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9316437	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9316439	0.92[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9526533	1.00[CEU][hapmap];0.96[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526534	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526535	0.89[ASN][1000 genomes]
rs9526537	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9526538	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9526539	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535173	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535174	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535177	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535180	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535181	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535182	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535184	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535185	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535190	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535192	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535193	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535197	1.00[CEU][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535198	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs9535199	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9535200	0.84[EUR][1000 genomes]
rs9562873	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9568174	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9568176	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9568177	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568179	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568181	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568182	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9591249	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9596077	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9596078	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9596079	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9596080	0.96[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49826600-49877800	Weak transcription	Psoas Muscle	Psoas
2	chr13:49854000-49877600	Weak transcription	Left Ventricle	heart
3	chr13:49854000-49883000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:49867200-49876800	Weak transcription	Thymus	Thymus
5	chr13:49867200-49884200	Weak transcription	Fetal Brain Female	brain
6	chr13:49868400-49877000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr13:49869200-49879200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:49869600-49882200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:49869800-49877200	Weak transcription	Lung	lung
10	chr13:49871600-49880400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr13:49872000-49877000	Weak transcription	Spleen	Spleen
12	chr13:49872200-49878600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:49873400-49877800	Weak transcription	NH-A	brain
14	chr13:49873600-49877600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:49873800-49877800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:49873800-49878000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:49874200-49876400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:49874600-49877000	Enhancers	Fetal Muscle Leg	muscle
19	chr13:49874800-49876200	Flanking Active TSS	HepG2	liver
20	chr13:49874800-49878000	Enhancers	Fetal Thymus	thymus
21	chr13:49875000-49877800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:49875000-49878200	Enhancers	Brain Cingulate Gyrus	brain
23	chr13:49875200-49876200	Enhancers	Primary B cells from peripheral blood	blood
24	chr13:49875200-49876200	Enhancers	Brain Germinal Matrix	brain
25	chr13:49875200-49876200	Active TSS	Stomach Smooth Muscle	stomach
26	chr13:49875200-49876400	Enhancers	Fetal Heart	heart
27	chr13:49875200-49876400	Enhancers	Right Atrium	heart
28	chr13:49875200-49877000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr13:49875200-49878200	Enhancers	Gastric	stomach
30	chr13:49875200-49880400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:49875400-49877000	Weak transcription	Pancreas	Pancrea
32	chr13:49875400-49877800	Weak transcription	NHLF	lung
33	chr13:49875400-49878600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr13:49875600-49876200	Enhancers	K562	blood
35	chr13:49875600-49876600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr13:49875600-49878200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:49875600-49878200	Enhancers	Right Ventricle	heart
38	chr13:49875800-49876200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr13:49875800-49876200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr13:49875800-49876200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr13:49875800-49876200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr13:49875800-49876200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr13:49875800-49876200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr13:49875800-49876200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:49875800-49876200	Enhancers	Adipose Nuclei	Adipose
46	chr13:49875800-49876200	Enhancers	Liver	Liver
47	chr13:49875800-49876200	Enhancers	Brain Anterior Caudate	brain
48	chr13:49875800-49876200	Enhancers	Rectal Smooth Muscle	rectum
49	chr13:49875800-49876200	Enhancers	Osteobl	bone
50	chr13:49875800-49876400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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