Variant report

Variant	rs1189463
Chromosome Location	chr13:95724571-95724572
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	chr13:95723326..95726989-chr13:95727890..95731022,3	K562	blood:

Variant related genes	Relation type
ENSG00000125257	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1189433	0.91[EUR][1000 genomes]
rs1189434	0.91[EUR][1000 genomes]
rs1189435	0.91[EUR][1000 genomes]
rs1189436	0.91[EUR][1000 genomes]
rs1189437	0.86[EUR][1000 genomes]
rs1189438	0.87[EUR][1000 genomes]
rs1189439	0.87[EUR][1000 genomes]
rs1189440	0.89[EUR][1000 genomes]
rs1189441	0.80[ASN][1000 genomes]
rs1189442	0.80[ASN][1000 genomes]
rs1189451	0.92[ASN][1000 genomes]
rs1189452	0.93[ASN][1000 genomes]
rs1189453	0.94[ASN][1000 genomes]
rs1189454	0.87[ASN][1000 genomes]
rs1189456	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1189461	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1189462	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1189464	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1189466	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1189467	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1612388	0.85[ASN][1000 genomes]
rs1617888	0.82[ASN][1000 genomes]
rs1629441	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1630901	0.85[ASN][1000 genomes]
rs1678339	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1678347	0.84[EUR][1000 genomes]
rs1678351	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1678362	0.85[EUR][1000 genomes]
rs1678365	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1678387	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1678409	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1729745	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1729747	0.84[ASN][1000 genomes]
rs1729752	0.87[EUR][1000 genomes]
rs1729753	0.85[EUR][1000 genomes]
rs1729755	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1751031	0.85[ASN][1000 genomes]
rs1751033	0.85[ASN][1000 genomes]
rs1751034	0.84[ASN][1000 genomes]
rs1751036	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1751037	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1751040	0.97[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1751042	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1751043	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1751046	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1751056	0.82[EUR][1000 genomes]
rs2619308	0.87[EUR][1000 genomes]
rs2619312	0.92[ASN][1000 genomes]
rs2766475	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2950957	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7338853	0.93[ASN][1000 genomes]
rs931111	0.85[ASN][1000 genomes]
rs943289	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9524790	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832688	chr13:95633193-95780198	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv525194	chr13:95672950-95737192	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95669600-95744000	Weak transcription	Small Intestine	intestine
2	chr13:95672800-95729000	Weak transcription	Colonic Mucosa	Colon
3	chr13:95676000-95740000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:95683200-95751800	Weak transcription	Fetal Lung	lung
5	chr13:95683800-95725800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr13:95684400-95728200	Weak transcription	Adipose Nuclei	Adipose
7	chr13:95684600-95725400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr13:95685200-95734600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr13:95686800-95744600	Weak transcription	Esophagus	oesophagus
10	chr13:95692600-95725600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr13:95692800-95735800	Weak transcription	NHEK	skin
12	chr13:95694800-95725600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr13:95696000-95726200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr13:95702400-95735200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr13:95709200-95728000	Weak transcription	HSMMtube	muscle
16	chr13:95710200-95727400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:95710400-95741200	Weak transcription	Right Ventricle	heart
18	chr13:95711800-95724600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:95713000-95727000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr13:95713400-95725000	Weak transcription	Placenta	Placenta
21	chr13:95716600-95725800	Weak transcription	NHDF-Ad	bronchial
22	chr13:95716800-95727000	Weak transcription	Fetal Thymus	thymus
23	chr13:95717200-95726200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr13:95717600-95727600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr13:95718000-95741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr13:95718200-95728600	Strong transcription	GM12878-XiMat	blood
27	chr13:95718400-95724800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr13:95718800-95728200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr13:95719400-95726400	Weak transcription	HSMM	muscle
30	chr13:95719400-95729000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:95719600-95739800	Weak transcription	Pancreas	Pancrea
32	chr13:95720000-95735400	Weak transcription	HUVEC	blood vessel
33	chr13:95720000-95736200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr13:95720200-95729600	Weak transcription	Osteobl	bone
35	chr13:95720600-95735000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:95720600-95736600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr13:95720800-95734200	Weak transcription	Thymus	Thymus
38	chr13:95721600-95724800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:95721600-95728600	Strong transcription	Primary T cells from cord blood	blood
40	chr13:95721800-95727600	Strong transcription	K562	blood
41	chr13:95722000-95725600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr13:95722000-95725800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:95722200-95727800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr13:95723000-95725800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:95723000-95742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:95723200-95733000	Weak transcription	Aorta	Aorta
47	chr13:95723800-95726400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr13:95723800-95726800	Weak transcription	Lung	lung
49	chr13:95723800-95727200	Weak transcription	Spleen	Spleen
50	chr13:95723800-95733000	Weak transcription	Fetal Intestine Small	intestine

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