Variant report

Variant	rs17593836
Chromosome Location	chr11:59404679-59404680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:59383150..59385073-chr11:59402691..59405438,2	K562	blood:
2	chr11:59402868..59405539-chr11:59417059..59419661,2	K562	blood:
3	chr11:59402868..59406000-chr11:59417059..59419822,3	K562	blood:

Variant related genes	Relation type
ENSG00000110048	Chromatin interaction
ENSG00000255139	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10501380	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11230019	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11230020	1.00[TSI][hapmap]
rs11230036	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11230037	1.00[TSI][hapmap]
rs1151063	1.00[TSI][hapmap]
rs1151064	1.00[TSI][hapmap]
rs11821465	1.00[TSI][hapmap]
rs12271110	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12272999	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12274820	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12276505	1.00[CEU][hapmap]
rs12278910	1.00[TSI][hapmap]
rs12287696	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12289921	1.00[TSI][hapmap]
rs12290453	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs12291415	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1287111	1.00[TSI][hapmap]
rs17153910	1.00[TSI][hapmap]
rs17154005	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17154053	0.94[EUR][1000 genomes]
rs17154134	1.00[TSI][hapmap]
rs17154146	1.00[TSI][hapmap]
rs17154157	1.00[TSI][hapmap]
rs17154165	1.00[TSI][hapmap]
rs17154180	1.00[TSI][hapmap]
rs17154200	1.00[TSI][hapmap]
rs17154227	1.00[TSI][hapmap]
rs17508845	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17509520	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17510841	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs17511545	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs17511686	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17592880	0.87[ASN][1000 genomes]
rs17593682	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17594827	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17596359	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17596862	1.00[CEU][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs1938690	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2085962	0.89[EUR][1000 genomes]
rs2508335	1.00[CEU][hapmap]
rs2509274	1.00[TSI][hapmap]
rs2509275	1.00[TSI][hapmap]
rs2509279	1.00[CEU][hapmap]
rs41384548	1.00[TSI][hapmap]
rs472177	1.00[TSI][hapmap]
rs473490	1.00[TSI][hapmap]
rs475800	0.83[EUR][1000 genomes]
rs482355	1.00[TSI][hapmap]
rs482356	1.00[TSI][hapmap]
rs485803	1.00[CEU][hapmap]
rs488331	1.00[TSI][hapmap]
rs495564	1.00[TSI][hapmap]
rs498099	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs512194	1.00[TSI][hapmap]
rs513979	1.00[CEU][hapmap]
rs523016	1.00[TSI][hapmap]
rs524102	1.00[CEU][hapmap]
rs529270	1.00[TSI][hapmap]
rs533166	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs536544	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs540684	1.00[TSI][hapmap]
rs540989	0.83[EUR][1000 genomes]
rs549086	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs552601	1.00[TSI][hapmap]
rs554848	1.00[TSI][hapmap]
rs57397608	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs579373	1.00[TSI][hapmap]
rs6591540	0.87[ASN][1000 genomes]
rs6591541	1.00[TSI][hapmap]
rs7101580	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7107183	0.87[ASN][1000 genomes]
rs7112355	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117509	0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs7118051	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7119530	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7123969	1.00[TSI][hapmap]
rs7130130	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7924849	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7929816	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7947514	1.00[TSI][hapmap]
rs7948041	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7948635	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7952024	1.00[TSI][hapmap]
rs7952380	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8280	1.00[TSI][hapmap]
rs997788	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1797571	chr11:59383323-59424688	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1797737	chr11:59383323-59424688	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1802782	chr11:59383323-59448068	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv832172	chr11:59396407-59431115	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59384800-59404800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:59385000-59404800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:59393600-59408200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:59394600-59404800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:59395600-59409800	Weak transcription	Fetal Heart	heart
6	chr11:59395600-59434600	Weak transcription	Stomach Mucosa	stomach
7	chr11:59397200-59405000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:59401400-59404800	Weak transcription	Fetal Brain Male	brain
9	chr11:59402000-59407400	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr11:59402200-59407200	Strong transcription	Primary B cells from cord blood	blood
11	chr11:59402200-59411800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:59402200-59427000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr11:59402200-59432400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:59402200-59434000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:59402400-59408600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:59402400-59427800	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr11:59402400-59428200	Strong transcription	Primary T cells from cord blood	blood
18	chr11:59402600-59407200	Strong transcription	NHEK	skin
19	chr11:59402600-59408600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:59402600-59409200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:59402600-59410600	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:59402600-59410800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:59402600-59410800	Strong transcription	Liver	Liver
24	chr11:59402600-59411200	Strong transcription	Fetal Stomach	stomach
25	chr11:59402600-59411200	Strong transcription	Spleen	Spleen
26	chr11:59402600-59424200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:59402600-59426800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:59402600-59427200	Strong transcription	Primary hematopoietic stem cells	blood
29	chr11:59402600-59427400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:59402600-59427600	Strong transcription	Adipose Nuclei	Adipose
31	chr11:59402600-59427600	Strong transcription	GM12878-XiMat	blood
32	chr11:59402600-59428000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:59402600-59428000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr11:59402600-59428400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr11:59402600-59428400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:59402600-59428600	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:59402600-59429000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:59402600-59434000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:59402600-59434000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:59402600-59434200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr11:59402600-59434400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:59402800-59407200	Strong transcription	HSMM	muscle
43	chr11:59402800-59407200	Strong transcription	HSMMtube	muscle
44	chr11:59402800-59408600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:59402800-59410600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:59402800-59410800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr11:59402800-59411200	Strong transcription	Fetal Intestine Small	intestine
48	chr11:59402800-59411200	Strong transcription	Lung	lung
49	chr11:59402800-59411400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:59402800-59413200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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