Variant report

Variant	rs9535180
Chromosome Location	chr13:49837022-49837023
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	chr13:49835568..49837886-chr13:49841764..49843487,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10459375	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10459376	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11843587	0.83[EUR][1000 genomes]
rs12385878	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12585196	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1924659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1924660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924661	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038759	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2147398	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2181905	0.87[EUR][1000 genomes]
rs2274149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274150	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2407521	0.80[CHB][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2407607	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407608	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2407609	0.85[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3087770	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3764131	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245351	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4941637	0.83[EUR][1000 genomes]
rs4942809	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942811	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942812	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4942815	0.83[EUR][1000 genomes]
rs6561511	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719614	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7320595	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7320745	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7326181	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7326191	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7328063	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7330892	0.82[EUR][1000 genomes]
rs7334929	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7984689	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7988621	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7997545	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7999710	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9316434	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316437	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9316439	0.85[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9526533	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526534	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526535	0.86[ASN][1000 genomes]
rs9526537	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9526538	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9526539	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535173	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535177	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535182	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535185	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535190	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535192	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9535193	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535194	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535197	0.85[EUR][1000 genomes]
rs9535198	0.83[EUR][1000 genomes]
rs9535199	0.82[EUR][1000 genomes]
rs9562873	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568174	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9568176	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9568177	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9568179	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9568181	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9568182	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9591249	0.80[CHB][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9596077	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9596078	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9596079	0.82[EUR][1000 genomes]
rs9596080	0.85[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.85[EUR][1000 genomes];0.88[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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49823000-49838000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:49823000-49838200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:49823000-49844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:49823400-49837200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:49823400-49837400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr13:49823400-49837600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:49823400-49844000	Weak transcription	A549	lung
8	chr13:49823600-49837400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr13:49823600-49843200	Weak transcription	NHEK	skin
10	chr13:49823800-49855400	Weak transcription	Small Intestine	intestine
11	chr13:49826600-49877800	Weak transcription	Psoas Muscle	Psoas
12	chr13:49827600-49837200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr13:49827800-49837800	Strong transcription	Fetal Lung	lung
14	chr13:49827800-49839400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:49828800-49837200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr13:49831200-49837600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:49831200-49845200	Weak transcription	NH-A	brain
18	chr13:49832000-49843000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:49832800-49838200	Strong transcription	NHDF-Ad	bronchial
20	chr13:49832800-49838600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr13:49832800-49844800	Strong transcription	Dnd41	blood
22	chr13:49832800-49860600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr13:49832800-49862800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr13:49833000-49837200	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:49833000-49865600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr13:49833200-49852600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr13:49833200-49863800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr13:49833200-49866600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr13:49833400-49837200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:49833400-49838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr13:49833400-49838400	Strong transcription	Liver	Liver
32	chr13:49833400-49838400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr13:49833400-49838600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:49833400-49838800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr13:49833600-49837200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr13:49833600-49837800	Strong transcription	Primary T cells from cord blood	blood
37	chr13:49833600-49837800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr13:49833600-49838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:49833800-49837200	Strong transcription	Left Ventricle	heart
40	chr13:49834000-49837800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr13:49834000-49846400	Weak transcription	Pancreas	Pancrea
42	chr13:49834200-49837600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr13:49834200-49855600	Weak transcription	Fetal Intestine Small	intestine
44	chr13:49834200-49875200	Weak transcription	Gastric	stomach
45	chr13:49834600-49845600	Weak transcription	Fetal Kidney	kidney
46	chr13:49834600-49867000	Weak transcription	Thymus	Thymus
47	chr13:49834800-49837800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr13:49834800-49841400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr13:49834800-49841400	Weak transcription	HUVEC	blood vessel
50	chr13:49834800-49853200	Weak transcription	Rectal Smooth Muscle	rectum

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