Variant report

Variant	rs9595926
Chromosome Location	chr13:49143836-49143837
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	chr13:49142248..49144143-chr13:49147250..49149323,2	K562	blood:
2	chr13:49143466..49145650-chr13:49355908..49357695,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233456	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12583787	1.00[ASN][1000 genomes]
rs12585384	1.00[ASN][1000 genomes]
rs12857866	1.00[ASN][1000 genomes]
rs17071937	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148515	1.00[ASN][1000 genomes]
rs2897587	0.83[EUR][1000 genomes]
rs4151598	1.00[ASN][1000 genomes]
rs4151602	1.00[ASN][1000 genomes]
rs4151613	1.00[ASN][1000 genomes]
rs449268	1.00[ASN][1000 genomes]
rs55686933	1.00[ASN][1000 genomes]
rs57394470	1.00[ASN][1000 genomes]
rs6650379	1.00[ASN][1000 genomes]
rs7139763	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7319276	1.00[ASN][1000 genomes]
rs7326934	1.00[ASN][1000 genomes]
rs73479216	0.83[ASN][1000 genomes]
rs73479220	1.00[ASN][1000 genomes]
rs73495018	1.00[ASN][1000 genomes]
rs73495037	1.00[ASN][1000 genomes]
rs74074915	1.00[ASN][1000 genomes]
rs74074916	1.00[ASN][1000 genomes]
rs74074942	1.00[ASN][1000 genomes]
rs74074944	1.00[ASN][1000 genomes]
rs74074946	1.00[ASN][1000 genomes]
rs74074951	1.00[ASN][1000 genomes]
rs74077638	1.00[ASN][1000 genomes]
rs9316384	1.00[ASN][1000 genomes]
rs9316386	1.00[ASN][1000 genomes]
rs9316387	1.00[ASN][1000 genomes]
rs9316396	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316398	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9331984	1.00[ASN][1000 genomes]
rs9331994	1.00[ASN][1000 genomes]
rs9332033	1.00[ASN][1000 genomes]
rs9332044	1.00[ASN][1000 genomes]
rs9332055	1.00[ASN][1000 genomes]
rs9332070	1.00[ASN][1000 genomes]
rs9332085	1.00[ASN][1000 genomes]
rs9591176	1.00[ASN][1000 genomes]
rs9595914	1.00[ASN][1000 genomes]
rs9595924	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595929	0.83[EUR][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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	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
6	nsv455881	chr13:49134412-49169570	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv561591	chr13:49134412-49169570	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49135000-49155000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:49137200-49153000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr13:49137400-49145200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr13:49138800-49145600	Weak transcription	HUVEC	blood vessel
5	chr13:49139000-49144800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr13:49139600-49144400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr13:49140000-49144200	Weak transcription	K562	blood
8	chr13:49140800-49146400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:49141000-49145000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:49141200-49147000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr13:49141400-49144800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr13:49141400-49145800	Enhancers	Fetal Stomach	stomach
13	chr13:49141400-49146200	Enhancers	HepG2	liver
14	chr13:49141400-49146400	Enhancers	Fetal Lung	lung
15	chr13:49141400-49146600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr13:49141800-49144000	Weak transcription	Fetal Kidney	kidney
17	chr13:49141800-49144200	Bivalent Enhancer	Primary B cells from cord blood	blood
18	chr13:49141800-49145600	Enhancers	Dnd41	blood
19	chr13:49141800-49145800	Enhancers	Placenta	Placenta
20	chr13:49141800-49146000	Enhancers	Fetal Muscle Leg	muscle
21	chr13:49141800-49150200	Weak transcription	Aorta	Aorta
22	chr13:49142200-49144600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr13:49142200-49145000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr13:49142200-49146000	Enhancers	Spleen	Spleen
25	chr13:49142400-49144000	Enhancers	Psoas Muscle	Psoas
26	chr13:49142400-49144400	Weak transcription	NHDF-Ad	bronchial
27	chr13:49142400-49144600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:49142400-49145800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr13:49142400-49148800	Enhancers	Fetal Thymus	thymus
30	chr13:49142600-49144200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:49142600-49144200	Enhancers	Right Atrium	heart
32	chr13:49142600-49144600	Weak transcription	HMEC	breast
33	chr13:49142600-49145400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:49142600-49145400	Enhancers	Esophagus	oesophagus
35	chr13:49142600-49145400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr13:49142600-49145400	Enhancers	HSMMtube	muscle
37	chr13:49142600-49145600	Enhancers	Adipose Nuclei	Adipose
38	chr13:49142600-49145600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr13:49142600-49145600	Enhancers	Stomach Smooth Muscle	stomach
40	chr13:49142800-49144000	Weak transcription	Ovary	ovary
41	chr13:49142800-49144400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:49142800-49144400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr13:49142800-49144600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr13:49142800-49145000	Weak transcription	Osteobl	bone
45	chr13:49142800-49145200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:49142800-49145600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:49142800-49145600	Enhancers	Brain Hippocampus Middle	brain
48	chr13:49143000-49144000	Weak transcription	HSMM	muscle
49	chr13:49143000-49144200	Enhancers	Brain Anterior Caudate	brain
50	chr13:49143000-49145200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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