Variant report

Variant	rs9317615
Chromosome Location	chr13:67378152-67378153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1020228	0.81[YRI][hapmap]
rs1025850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11616479	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11617188	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.98[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12428689	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12429002	0.87[GIH][hapmap]
rs12429996	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12430583	0.82[GIH][hapmap]
rs12860004	0.81[ASN][1000 genomes]
rs12875661	0.94[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs12875687	0.80[CEU][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs1441996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1441999	0.81[YRI][hapmap]
rs1442004	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1442006	0.95[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[ASN][1000 genomes]
rs1442013	0.81[CHB][hapmap]
rs1475207	0.81[CHB][hapmap]
rs1530301	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1561768	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1866983	0.81[CHB][hapmap]
rs1998607	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[ASN][1000 genomes]
rs2010695	0.84[ASN][1000 genomes]
rs2031350	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.98[TSI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2053497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2165599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2165600	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.98[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2324967	0.81[CHB][hapmap]
rs2324988	0.81[CHB][hapmap]
rs2875502	0.81[CHB][hapmap];0.91[YRI][hapmap]
rs4591020	0.81[CHB][hapmap]
rs4630424	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap]
rs4883787	0.81[CHB][hapmap]
rs4883789	0.91[YRI][hapmap]
rs4884705	0.87[ASN][1000 genomes]
rs7358806	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs746273	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7986641	0.81[CHB][hapmap]
rs7993113	0.80[CHB][hapmap]
rs7994100	0.81[CHB][hapmap]
rs8000445	0.81[YRI][hapmap]
rs9285255	0.85[CHB][hapmap]
rs9317614	0.81[LWK][hapmap];1.00[YRI][hapmap]
rs9317618	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9317619	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9317620	0.88[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs9529137	0.81[CHB][hapmap]
rs9529148	0.87[ASN][1000 genomes]
rs9540911	0.80[CHB][hapmap]
rs9540919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9540920	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.98[TSI][hapmap]
rs9540923	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9540936	0.84[ASN][1000 genomes]
rs9564345	0.81[CHB][hapmap]
rs9564350	0.81[CHB][hapmap]
rs9564358	0.85[GIH][hapmap]
rs9571678	0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs9571679	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9571680	0.87[GIH][hapmap]
rs9592488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9592490	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9592491	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[ASN][1000 genomes]
rs9599147	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9599152	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9599153	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs9599157	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9599161	0.87[YRI][hapmap]
rs988157	0.81[CHB][hapmap]
rs9972065	0.84[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041133	chr13:66723731-67530595	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv530605	chr13:67126136-67697306	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv455928	chr13:67212422-67392298	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv562131	chr13:67212422-67392298	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv900402	chr13:67269546-67379709	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1042768	chr13:67276493-67416565	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv523360	chr13:67322714-67520344	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1051576	chr13:67322747-67520255	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv900404	chr13:67325786-67392298	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv900405	chr13:67347245-67446835	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1042756	chr13:67352439-67445867	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv430580	chr13:67352439-67468100	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv562136	chr13:67355618-67485147	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1051623	chr13:67377549-67465276	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67375800-67383600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr13:67376400-67380600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:67377000-67381200	Enhancers	Brain Anterior Caudate	brain
4	chr13:67377200-67378200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr13:67377200-67379200	Enhancers	Brain Cingulate Gyrus	brain
6	chr13:67377400-67378200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr13:67377400-67378200	Enhancers	Fetal Brain Male	brain
8	chr13:67377400-67378200	Enhancers	Fetal Brain Female	brain
9	chr13:67377600-67378200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:67377600-67378200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:67377600-67378200	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr13:67377600-67378200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:67377600-67378200	Enhancers	Fetal Muscle Leg	muscle
14	chr13:67377600-67378200	Enhancers	Left Ventricle	heart
15	chr13:67377600-67378200	Enhancers	Psoas Muscle	Psoas
16	chr13:67377600-67378600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:67377600-67380600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:67377800-67378200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr13:67378000-67378200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr13:67378000-67378200	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr13:67378000-67378200	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr13:67378000-67378200	Flanking Active TSS	Fetal Lung	lung
23	chr13:67378000-67378400	Enhancers	Adipose Nuclei	Adipose
24	chr13:67378000-67378400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr13:67378000-67378400	Enhancers	HSMMtube	muscle
26	chr13:67378000-67380000	Enhancers	Hela-S3	cervix
27	chr13:67378000-67380600	Enhancers	A549	lung

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