Variant report

Variant	rs1751042
Chromosome Location	chr13:95728323-95728324
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:95726717-95729517	K562	blood:	n/a	n/a
2	POLR2A	chr13:95728269-95728558	A549	lung:	n/a	n/a
3	NFATC1	chr13:95728110-95728420	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95723326..95726989-chr13:95727890..95731022,3	K562	blood:

Variant related genes	Relation type
ABCC4	TF binding region
ENSG00000125257	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1189430	0.86[EUR][1000 genomes]
rs1189431	0.86[EUR][1000 genomes]
rs1189433	1.00[CEU][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1189434	1.00[CEU][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1189435	1.00[CEU][hapmap];0.85[JPT][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1189436	1.00[CEU][hapmap];0.85[JPT][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1189437	1.00[CEU][hapmap];0.85[JPT][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1189438	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1189439	1.00[CEU][hapmap];0.85[JPT][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1189440	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1189441	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1189442	0.84[ASN][1000 genomes]
rs1189443	0.82[ASN][1000 genomes]
rs1189444	0.82[ASN][1000 genomes]
rs1189445	0.81[JPT][hapmap]
rs1189446	0.81[JPT][hapmap]
rs1189449	0.81[JPT][hapmap]
rs1189451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1189452	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1189453	0.91[ASN][1000 genomes]
rs1189454	0.82[ASN][1000 genomes]
rs1189456	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1189461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1189462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1189463	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1189464	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1189466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1189467	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1612388	0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs1617888	0.80[ASN][1000 genomes]
rs1629441	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1630901	0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs1678339	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678341	0.85[JPT][hapmap]
rs1678347	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1678351	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1678353	1.00[CEU][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs1678362	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1678365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1678387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1678409	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1729745	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1729747	0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs1729752	1.00[CEU][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1729753	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1729755	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1729773	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1751031	0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs1751033	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs1751034	0.87[ASN][1000 genomes]
rs1751036	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1751037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1751040	0.80[ASN][1000 genomes]
rs1751043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1751046	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1751052	0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1751055	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1751056	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1751057	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2619308	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2619311	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2619312	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2766475	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2950957	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4148540	0.82[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs4773840	0.85[JPT][hapmap]
rs7330330	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs7331488	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs7338853	0.94[ASN][1000 genomes]
rs7986666	0.83[ASN][1000 genomes]
rs931111	0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs943289	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9524790	0.94[ASN][1000 genomes]
rs9561765	0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]

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:70 , 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	chr13:95685200-95734600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr13:95686800-95744600	Weak transcription	Esophagus	oesophagus
7	chr13:95692800-95735800	Weak transcription	NHEK	skin
8	chr13:95702400-95735200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr13:95710400-95741200	Weak transcription	Right Ventricle	heart
10	chr13:95718000-95741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr13:95718200-95728600	Strong transcription	GM12878-XiMat	blood
12	chr13:95719400-95729000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:95719600-95739800	Weak transcription	Pancreas	Pancrea
14	chr13:95720000-95735400	Weak transcription	HUVEC	blood vessel
15	chr13:95720000-95736200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:95720200-95729600	Weak transcription	Osteobl	bone
17	chr13:95720600-95735000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:95720600-95736600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr13:95720800-95734200	Weak transcription	Thymus	Thymus
20	chr13:95721600-95728600	Strong transcription	Primary T cells from cord blood	blood
21	chr13:95723000-95742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:95723200-95733000	Weak transcription	Aorta	Aorta
23	chr13:95723800-95733000	Weak transcription	Fetal Intestine Small	intestine
24	chr13:95723800-95733000	Weak transcription	Fetal Stomach	stomach
25	chr13:95723800-95760000	Weak transcription	Colon Smooth Muscle	Colon
26	chr13:95724000-95729000	Weak transcription	Fetal Kidney	kidney
27	chr13:95724000-95740000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:95724000-95751800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr13:95724000-95760600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:95724200-95729200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr13:95724200-95729200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:95724200-95730200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:95724200-95732400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr13:95724200-95733000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr13:95724200-95734600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:95724200-95734800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr13:95724200-95740000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:95724200-95749600	Weak transcription	Fetal Intestine Large	intestine
39	chr13:95725400-95728400	Strong transcription	Ovary	ovary
40	chr13:95725400-95728800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr13:95725600-95730800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr13:95726400-95729400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr13:95726400-95733800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:95726400-95739800	Weak transcription	NH-A	brain
45	chr13:95726800-95728400	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr13:95726800-95728600	Strong transcription	Gastric	stomach
47	chr13:95726800-95728600	Strong transcription	Lung	lung
48	chr13:95727000-95728400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr13:95727000-95739800	Weak transcription	NHLF	lung
50	chr13:95727000-95752600	Weak transcription	HSMM	muscle

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