Variant report

Variant	rs9568169
Chromosome Location	chr13:49794650-49794651
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1013347	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12184794	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12871418	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1359066	0.95[GIH][hapmap];0.83[MEX][hapmap]
rs1407827	0.95[GIH][hapmap];0.83[MEX][hapmap]
rs1407829	0.95[GIH][hapmap];0.83[MEX][hapmap]
rs1535922	0.89[GIH][hapmap];0.85[MKK][hapmap];0.82[AMR][1000 genomes]
rs1924659	0.84[CHD][hapmap]
rs1983805	0.95[GIH][hapmap];0.82[MEX][hapmap]
rs2026029	0.95[GIH][hapmap];0.83[MEX][hapmap]
rs2075610	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2146748	0.89[GIH][hapmap]
rs2147398	0.81[CHD][hapmap]
rs2147399	0.86[AMR][1000 genomes]
rs2181539	0.89[GIH][hapmap];0.81[MKK][hapmap]
rs2183095	0.89[GIH][hapmap];0.84[MKK][hapmap]
rs2274150	0.81[CHD][hapmap]
rs2407266	0.89[GIH][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap]
rs2407609	0.81[CHD][hapmap]
rs2897633	0.87[GIH][hapmap]
rs2897689	0.80[GIH][hapmap]
rs2994377	0.89[GIH][hapmap];0.84[MKK][hapmap]
rs2994378	0.89[GIH][hapmap];0.85[MKK][hapmap]
rs2994379	0.89[GIH][hapmap];0.84[MKK][hapmap]
rs2994380	0.91[GIH][hapmap];0.83[MKK][hapmap]
rs3012116	0.89[GIH][hapmap];0.85[MKK][hapmap]
rs3012117	0.89[GIH][hapmap];0.84[MKK][hapmap]
rs3012121	0.89[GIH][hapmap];0.85[MKK][hapmap]
rs4142065	0.89[GIH][hapmap]
rs4530025	0.89[GIH][hapmap]
rs4942799	0.93[GIH][hapmap];0.83[MEX][hapmap]
rs4942800	0.95[GIH][hapmap]
rs4942812	0.84[CHD][hapmap]
rs6561496	0.89[GIH][hapmap];0.81[MKK][hapmap]
rs6561497	0.89[GIH][hapmap];0.81[MKK][hapmap]
rs6561506	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6561507	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6561510	0.86[LWK][hapmap];0.90[YRI][hapmap]
rs67235936	0.84[AMR][1000 genomes]
rs7326191	0.84[CHD][hapmap]
rs7338304	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7982804	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7983885	0.95[GIH][hapmap];0.83[MEX][hapmap]
rs7987258	0.81[GIH][hapmap];0.83[MEX][hapmap]
rs7988168	0.89[GIH][hapmap];0.81[MKK][hapmap]
rs7994910	0.95[GIH][hapmap];0.83[MEX][hapmap]
rs7995616	0.95[GIH][hapmap];0.83[MEX][hapmap]
rs7996151	0.82[AMR][1000 genomes]
rs7997545	0.84[CHD][hapmap]
rs8002911	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9316428	0.89[GIH][hapmap]
rs9316434	0.84[CHD][hapmap]
rs9526518	0.89[GIH][hapmap]
rs9526521	0.89[GIH][hapmap]
rs9526531	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9526532	0.88[ASW][hapmap];0.95[CEU][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9535136	0.89[GIH][hapmap]
rs9535145	0.89[GIH][hapmap];0.85[MKK][hapmap]
rs9535146	0.89[GIH][hapmap]
rs9535154	0.89[GIH][hapmap];0.85[MKK][hapmap]
rs9535155	0.89[GIH][hapmap];0.84[MKK][hapmap]
rs9535166	0.89[GIH][hapmap];0.85[MKK][hapmap];0.82[AMR][1000 genomes]
rs9535167	0.89[GIH][hapmap];0.84[MKK][hapmap]
rs9535170	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535172	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9535181	0.84[CHD][hapmap]
rs9535184	0.84[CHD][hapmap]
rs9535193	0.84[CHD][hapmap]
rs9562866	0.89[GIH][hapmap];0.81[MKK][hapmap]
rs9562870	0.95[GIH][hapmap];0.83[MEX][hapmap]
rs9568150	0.89[GIH][hapmap]
rs9568171	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568172	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9568173	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9568177	0.84[CHD][hapmap]
rs9591246	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9591247	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9596073	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs972297	0.86[CHD][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap]

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	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
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49792200-49795600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr13:49792200-49795800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr13:49792400-49795600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr13:49793000-49795600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr13:49793400-49795600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr13:49793400-49796000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr13:49793800-49794800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:49793800-49794800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:49793800-49795000	Active TSS	A549	lung
10	chr13:49793800-49795000	Bivalent/Poised TSS	NHEK	skin
11	chr13:49793800-49795200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
12	chr13:49793800-49795400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:49793800-49795600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr13:49793800-49795600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr13:49793800-49795600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
16	chr13:49793800-49795600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr13:49793800-49795600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:49793800-49795600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:49793800-49795600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr13:49793800-49795600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr13:49794000-49794800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:49794000-49794800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:49794000-49794800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
24	chr13:49794000-49794800	Flanking Active TSS	Liver	Liver
25	chr13:49794000-49794800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr13:49794000-49794800	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
27	chr13:49794000-49794800	Flanking Bivalent TSS/Enh	Thymus	Thymus
28	chr13:49794000-49794800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
29	chr13:49794000-49795000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr13:49794000-49795000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:49794000-49795000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:49794000-49795000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
33	chr13:49794000-49795000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
34	chr13:49794000-49795000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
35	chr13:49794000-49795000	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr13:49794000-49795000	Active TSS	Ovary	ovary
37	chr13:49794000-49795200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:49794000-49795200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr13:49794000-49795200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:49794000-49795200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr13:49794000-49795200	Flanking Active TSS	Pancreas	Pancrea
42	chr13:49794000-49795400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
43	chr13:49794000-49795400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
44	chr13:49794000-49795400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
45	chr13:49794000-49795400	Bivalent Enhancer	Fetal Brain Male	brain
46	chr13:49794000-49795400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
47	chr13:49794000-49795400	Bivalent/Poised TSS	HSMM	muscle
48	chr13:49794000-49795400	Bivalent/Poised TSS	NHLF	lung
49	chr13:49794000-49795400	Bivalent/Poised TSS	Osteobl	bone
50	chr13:49794000-49795600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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