Variant report

Variant	rs4942815
Chromosome Location	chr13:49889267-49889268
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	chr13:49888284..49892411-chr13:49892733..49897441,5	K562	blood:
2	chr13:49886834..49889531-chr13:50158388..50161122,2	K562	blood:

Variant related genes	Relation type
ENSG00000136144	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	0.86[EUR][1000 genomes]
rs10459376	0.87[EUR][1000 genomes]
rs11619804	0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs11838927	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11843587	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12585196	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1555672	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1924659	0.96[CEU][hapmap];0.82[YRI][hapmap];0.86[EUR][1000 genomes]
rs1924660	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs1924661	0.83[EUR][1000 genomes]
rs2038759	0.87[EUR][1000 genomes]
rs2147398	0.96[CEU][hapmap];0.87[CHB][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2181905	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2274149	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs2274150	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs2407521	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2407607	0.84[EUR][1000 genomes]
rs2407608	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs2407609	0.96[CEU][hapmap];0.82[CHB][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3087770	0.86[EUR][1000 genomes]
rs3751418	0.87[JPT][hapmap]
rs3764131	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs4245351	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4941637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4942809	0.82[EUR][1000 genomes]
rs4942811	0.83[EUR][1000 genomes]
rs4942812	0.96[CEU][hapmap];0.82[YRI][hapmap];0.86[EUR][1000 genomes]
rs6561511	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs719614	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs7320595	0.84[EUR][1000 genomes]
rs7320745	0.83[EUR][1000 genomes]
rs7326181	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7326191	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs7328063	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7330892	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7334929	0.84[EUR][1000 genomes]
rs7984689	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs7988621	0.87[EUR][1000 genomes]
rs7991918	0.85[EUR][1000 genomes]
rs7997545	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs7999710	0.87[EUR][1000 genomes]
rs9316434	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs9316437	0.87[EUR][1000 genomes]
rs9316439	0.96[CEU][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9526533	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs9526534	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs9526537	0.82[EUR][1000 genomes]
rs9526538	0.82[EUR][1000 genomes]
rs9526539	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9535173	0.81[EUR][1000 genomes]
rs9535174	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs9535177	0.83[EUR][1000 genomes]
rs9535179	0.83[JPT][hapmap]
rs9535180	0.83[EUR][1000 genomes]
rs9535181	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs9535182	0.83[EUR][1000 genomes]
rs9535184	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs9535185	0.84[EUR][1000 genomes]
rs9535190	0.87[EUR][1000 genomes]
rs9535193	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9535194	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9535197	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535198	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535199	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535200	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9562873	0.82[EUR][1000 genomes]
rs9568176	0.85[EUR][1000 genomes]
rs9568177	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs9568179	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9568181	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9568182	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9591249	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9596077	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9596078	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9596079	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9596080	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9596082	0.96[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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49875800-49891000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr13:49876200-49895000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr13:49876200-49935600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr13:49878200-49893600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:49878200-49894800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:49880400-49894200	Weak transcription	Primary B cells from cord blood	blood
7	chr13:49880600-49896000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr13:49881800-49906800	Weak transcription	Fetal Brain Male	brain
9	chr13:49884600-49895000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr13:49884600-49933600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr13:49884800-49903800	Weak transcription	Fetal Brain Female	brain
12	chr13:49884800-49914200	Weak transcription	Brain Hippocampus Middle	brain
13	chr13:49884800-49925600	Weak transcription	Brain Substantia Nigra	brain
14	chr13:49885000-49895000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr13:49885600-49933400	Weak transcription	Primary T cells from cord blood	blood
16	chr13:49885800-49926000	Weak transcription	Brain Germinal Matrix	brain
17	chr13:49887400-49889800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:49887600-49889400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:49887600-49889400	Enhancers	HMEC	breast
20	chr13:49887600-49889400	Enhancers	HSMM	muscle
21	chr13:49887600-49889400	Enhancers	HSMMtube	muscle
22	chr13:49887600-49889600	Enhancers	NHLF	lung
23	chr13:49887600-49889600	Enhancers	Osteobl	bone
24	chr13:49887800-49889400	Enhancers	Colon Smooth Muscle	Colon
25	chr13:49887800-49889600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:49888400-49893800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr13:49888400-49903800	Weak transcription	Right Ventricle	heart
28	chr13:49888400-49904000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr13:49888400-49922200	Weak transcription	Gastric	stomach
30	chr13:49888600-49889400	Enhancers	Rectal Smooth Muscle	rectum
31	chr13:49888600-49889600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:49888600-49889600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:49888600-49889800	Enhancers	K562	blood
34	chr13:49888600-49895600	Weak transcription	Esophagus	oesophagus
35	chr13:49888600-49897200	Weak transcription	Fetal Stomach	stomach
36	chr13:49888600-49905600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:49888600-49922200	Weak transcription	Lung	lung
38	chr13:49888800-49889400	Weak transcription	Small Intestine	intestine
39	chr13:49888800-49889400	Enhancers	NH-A	brain
40	chr13:49888800-49889600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr13:49888800-49889600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr13:49888800-49890800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:49888800-49890800	Weak transcription	Left Ventricle	heart
44	chr13:49888800-49894800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:49888800-49895000	Weak transcription	Fetal Intestine Small	intestine
46	chr13:49888800-49903600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr13:49888800-49905400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr13:49888800-49908800	Weak transcription	Fetal Intestine Large	intestine
49	chr13:49889000-49889400	Weak transcription	Right Atrium	heart
50	chr13:49889000-49889400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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