Variant report

Variant	rs9535886
Chromosome Location	chr13:52730750-52730751
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52729535..52732308-chr13:52732328..52734703,4	K562	blood:
2	chr13:52728953..52731151-chr13:52731981..52733789,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136098	Chromatin interaction

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

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

rs_ID	r²[population]
rs1122934	1.00[ASN][1000 genomes]
rs2478956	1.00[JPT][hapmap]
rs2768118	1.00[JPT][hapmap]
rs4091568	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941729	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55667430	0.87[ASN][1000 genomes]
rs55715265	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57345934	1.00[ASN][1000 genomes]
rs61957231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957233	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61957238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957249	1.00[ASN][1000 genomes]
rs61957252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957254	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957258	1.00[ASN][1000 genomes]
rs61957297	1.00[ASN][1000 genomes]
rs61957307	0.83[EUR][1000 genomes]
rs61958782	1.00[ASN][1000 genomes]
rs61958784	1.00[ASN][1000 genomes]
rs61958786	1.00[ASN][1000 genomes]
rs61958788	1.00[ASN][1000 genomes]
rs61958800	1.00[ASN][1000 genomes]
rs61958801	1.00[ASN][1000 genomes]
rs61958802	1.00[ASN][1000 genomes]
rs61958803	1.00[ASN][1000 genomes]
rs61958806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958807	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958865	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719349	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7325826	1.00[JPT][hapmap]
rs7333070	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73502305	1.00[ASN][1000 genomes]
rs73502307	1.00[ASN][1000 genomes]
rs9526818	1.00[ASN][1000 genomes]
rs9526840	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526852	1.00[JPT][hapmap]
rs9535814	1.00[ASN][1000 genomes]
rs9535818	1.00[ASN][1000 genomes]
rs9535831	1.00[ASN][1000 genomes]
rs9535838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535839	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535850	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535852	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535859	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535870	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535875	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535881	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535890	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9535892	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535893	1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9535894	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9535897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535900	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535901	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535902	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535903	1.00[ASN][1000 genomes]
rs9535906	1.00[ASN][1000 genomes]
rs9535909	1.00[ASN][1000 genomes]
rs9535910	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535911	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535960	1.00[JPT][hapmap]
rs9536018	1.00[JPT][hapmap]
rs9536019	1.00[JPT][hapmap]
rs9536044	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking 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	59 gene(s)	inside rSNPs	diseases
3	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv1037567	chr13:52643647-52802799	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv3429935	chr13:52694751-52735744	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52703600-52730800	Weak transcription	Stomach Mucosa	stomach
2	chr13:52703600-52731000	Weak transcription	Brain Angular Gyrus	brain
3	chr13:52703600-52732600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr13:52703600-52732800	Weak transcription	Psoas Muscle	Psoas
5	chr13:52703600-52733000	Weak transcription	Esophagus	oesophagus
6	chr13:52703800-52731200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr13:52703800-52731400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr13:52703800-52731400	Weak transcription	Spleen	Spleen
9	chr13:52703800-52732600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr13:52703800-52732600	Weak transcription	HMEC	breast
11	chr13:52703800-52733200	Weak transcription	Gastric	stomach
12	chr13:52704000-52733000	Weak transcription	Fetal Thymus	thymus
13	chr13:52706200-52731000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr13:52706600-52730800	Weak transcription	HUVEC	blood vessel
15	chr13:52706600-52731000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:52706600-52732600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr13:52706600-52732800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:52706600-52732800	Weak transcription	Pancreas	Pancrea
19	chr13:52707400-52731200	Weak transcription	Primary B cells from cord blood	blood
20	chr13:52707400-52732800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr13:52707600-52731600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr13:52707600-52732600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:52707800-52732600	Weak transcription	A549	lung
24	chr13:52708000-52732600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:52708400-52732600	Weak transcription	HSMMtube	muscle
26	chr13:52708400-52732800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr13:52710400-52732800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr13:52712200-52733000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:52712400-52733000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:52720800-52732400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr13:52721800-52732600	Weak transcription	NHEK	skin
32	chr13:52723000-52732600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:52723000-52732600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr13:52724000-52731000	Weak transcription	Fetal Intestine Small	intestine
35	chr13:52724200-52732800	Weak transcription	Thymus	Thymus
36	chr13:52725400-52732600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:52725600-52731200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:52725800-52731000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr13:52725800-52732600	Weak transcription	Brain Germinal Matrix	brain
40	chr13:52725800-52732600	Weak transcription	Fetal Brain Female	brain
41	chr13:52725800-52732800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr13:52725800-52732800	Weak transcription	Ovary	ovary
43	chr13:52726000-52730800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr13:52726000-52731400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr13:52726000-52731400	Weak transcription	Colonic Mucosa	Colon
46	chr13:52726000-52731400	Weak transcription	Lung	lung
47	chr13:52726000-52731400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr13:52726000-52732400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:52726000-52732400	Weak transcription	Colon Smooth Muscle	Colon
50	chr13:52726000-52732600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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