Variant report

Variant	rs1239681
Chromosome Location	chr13:51165710-51165711
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	chr13:51165408..51167932-chr13:51169513..51171803,2	K562	blood:
2	chr13:51164156..51167567-chr13:51169457..51171803,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1239682	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1239683	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1239684	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1239686	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1239687	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1239688	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1239689	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1239690	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1239691	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1239692	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1239693	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1239695	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1239696	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1239702	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1239703	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1239705	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1239706	0.82[ASN][1000 genomes]
rs1239707	0.82[ASN][1000 genomes]
rs1270717	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1271766	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2794469	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs706601	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs706602	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs770383	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs770384	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs770385	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs770386	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs770388	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs770391	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs770392	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs770393	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs770394	0.86[EUR][1000 genomes]
rs770395	0.87[EUR][1000 genomes]
rs770396	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs947380	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs947382	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs947383	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9596313	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs978332	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription 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	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv32589	chr13:51165508-51166870	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51150400-51167400	Weak transcription	HepG2	liver
2	chr13:51151200-51169600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr13:51156200-51167600	Weak transcription	Fetal Kidney	kidney
4	chr13:51159400-51168000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:51159400-51168000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:51159400-51170600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:51159600-51168400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr13:51160000-51166600	Enhancers	Fetal Thymus	thymus
9	chr13:51160000-51168000	Weak transcription	Thymus	Thymus
10	chr13:51160200-51174000	Enhancers	Primary B cells from peripheral blood	blood
11	chr13:51160800-51168000	Enhancers	Dnd41	blood
12	chr13:51161200-51166000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr13:51161400-51167600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:51161400-51168000	Weak transcription	Fetal Intestine Small	intestine
15	chr13:51162000-51168000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr13:51162000-51168800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:51162200-51167400	Enhancers	HMEC	breast
18	chr13:51162200-51168000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr13:51162200-51172600	Weak transcription	Spleen	Spleen
20	chr13:51162400-51168800	Weak transcription	Fetal Lung	lung
21	chr13:51162400-51170200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:51162800-51168200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:51163600-51168600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr13:51163800-51166000	Weak transcription	Hela-S3	cervix
25	chr13:51163800-51167600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:51164000-51166600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr13:51164000-51168000	Weak transcription	Fetal Intestine Large	intestine
28	chr13:51164000-51168000	Weak transcription	Fetal Muscle Leg	muscle
29	chr13:51164400-51167400	Enhancers	NH-A	brain
30	chr13:51164400-51168800	Enhancers	Primary B cells from cord blood	blood
31	chr13:51164400-51168800	Weak transcription	Adipose Nuclei	Adipose
32	chr13:51164400-51168800	Weak transcription	Right Atrium	heart
33	chr13:51164600-51166600	Weak transcription	HSMMtube	muscle
34	chr13:51164600-51166600	Weak transcription	NHDF-Ad	bronchial
35	chr13:51164600-51167400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:51164800-51165800	Weak transcription	Osteobl	bone
37	chr13:51164800-51166000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr13:51164800-51166600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:51164800-51169400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr13:51165000-51166400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:51165200-51166000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:51165200-51166600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr13:51165200-51167000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:51165200-51167200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:51165200-51168400	Weak transcription	Left Ventricle	heart
46	chr13:51165400-51165800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr13:51165400-51165800	Weak transcription	HSMM	muscle
48	chr13:51165600-51165800	Enhancers	GM12878-XiMat	blood
49	chr13:51165600-51167400	Enhancers	NHEK	skin
50	chr13:51165600-51169000	Weak transcription	Fetal Heart	heart

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