Variant report

Variant	rs1189464
Chromosome Location	chr13:95725866-95725867
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: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1189430	0.86[EUR][1000 genomes]
rs1189431	0.86[EUR][1000 genomes]
rs1189433	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1189434	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1189435	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1189436	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1189437	0.89[EUR][1000 genomes]
rs1189438	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1189439	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1189440	0.96[EUR][1000 genomes]
rs1189441	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1189442	0.86[ASN][1000 genomes]
rs1189443	0.85[ASN][1000 genomes]
rs1189444	0.85[ASN][1000 genomes]
rs1189451	0.96[ASN][1000 genomes]
rs1189452	0.97[ASN][1000 genomes]
rs1189453	0.93[ASN][1000 genomes]
rs1189454	0.84[ASN][1000 genomes]
rs1189456	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1189461	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1189462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1189463	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1189466	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1189467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1612388	0.92[ASN][1000 genomes]
rs1629441	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1630901	0.92[ASN][1000 genomes]
rs1678339	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1678347	0.91[EUR][1000 genomes]
rs1678351	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678353	0.86[EUR][1000 genomes]
rs1678362	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1678365	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1678387	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1678409	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1729745	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1729747	0.90[ASN][1000 genomes]
rs1729752	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1729753	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1729755	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1729773	0.86[EUR][1000 genomes]
rs1751031	0.92[ASN][1000 genomes]
rs1751033	0.87[ASN][1000 genomes]
rs1751034	0.90[ASN][1000 genomes]
rs1751036	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1751037	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1751040	0.83[ASN][1000 genomes]
rs1751042	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1751043	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1751046	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1751052	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1751055	0.86[EUR][1000 genomes]
rs1751056	0.85[EUR][1000 genomes]
rs1751057	0.86[EUR][1000 genomes]
rs2619308	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2619311	0.84[ASN][1000 genomes]
rs2619312	0.96[ASN][1000 genomes]
rs2766475	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2950957	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7338853	0.97[ASN][1000 genomes]
rs7986666	0.81[ASN][1000 genomes]
rs931111	0.91[ASN][1000 genomes]
rs943289	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9524790	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv562767	chr13:95725866-95731190	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 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	chr13:95684400-95728200	Weak transcription	Adipose Nuclei	Adipose
6	chr13:95685200-95734600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr13:95686800-95744600	Weak transcription	Esophagus	oesophagus
8	chr13:95692800-95735800	Weak transcription	NHEK	skin
9	chr13:95696000-95726200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr13:95702400-95735200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr13:95709200-95728000	Weak transcription	HSMMtube	muscle
12	chr13:95710200-95727400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:95710400-95741200	Weak transcription	Right Ventricle	heart
14	chr13:95713000-95727000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:95716800-95727000	Weak transcription	Fetal Thymus	thymus
16	chr13:95717200-95726200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr13:95717600-95727600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr13:95718000-95741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr13:95718200-95728600	Strong transcription	GM12878-XiMat	blood
20	chr13:95718800-95728200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr13:95719400-95726400	Weak transcription	HSMM	muscle
22	chr13:95719400-95729000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr13:95719600-95739800	Weak transcription	Pancreas	Pancrea
24	chr13:95720000-95735400	Weak transcription	HUVEC	blood vessel
25	chr13:95720000-95736200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr13:95720200-95729600	Weak transcription	Osteobl	bone
27	chr13:95720600-95735000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:95720600-95736600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr13:95720800-95734200	Weak transcription	Thymus	Thymus
30	chr13:95721600-95728600	Strong transcription	Primary T cells from cord blood	blood
31	chr13:95721800-95727600	Strong transcription	K562	blood
32	chr13:95722200-95727800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr13:95723000-95742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:95723200-95733000	Weak transcription	Aorta	Aorta
35	chr13:95723800-95726400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:95723800-95726800	Weak transcription	Lung	lung
37	chr13:95723800-95727200	Weak transcription	Spleen	Spleen
38	chr13:95723800-95733000	Weak transcription	Fetal Intestine Small	intestine
39	chr13:95723800-95733000	Weak transcription	Fetal Stomach	stomach
40	chr13:95723800-95760000	Weak transcription	Colon Smooth Muscle	Colon
41	chr13:95724000-95726400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr13:95724000-95726400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr13:95724000-95726800	Weak transcription	Gastric	stomach
44	chr13:95724000-95726800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr13:95724000-95728000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr13:95724000-95729000	Weak transcription	Fetal Kidney	kidney
47	chr13:95724000-95740000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr13:95724000-95751800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr13:95724000-95760600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:95724200-95726200	Weak transcription	A549	lung

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