Variant report

Variant	rs3099363
Chromosome Location	chr13:96496858-96496859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10508027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11616953	0.88[EUR][1000 genomes]
rs11618323	0.81[EUR][1000 genomes]
rs11619636	0.81[ASN][1000 genomes]
rs12428062	0.81[ASN][1000 genomes]
rs12430152	0.87[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1330556	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330557	0.95[ASN][1000 genomes]
rs16951448	0.81[ASN][1000 genomes]
rs17879875	0.81[EUR][1000 genomes]
rs1788062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17885081	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1854758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3099362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs3101570	0.87[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3125439	0.81[AMR][1000 genomes]
rs3848077	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3886352	0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4254181	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4347496	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4383020	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4409947	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4526890	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773932	0.81[ASN][1000 genomes]
rs531549	0.81[ASN][1000 genomes]
rs537463	0.81[ASN][1000 genomes]
rs56077337	0.81[ASN][1000 genomes]
rs565297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs565898	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6492822	0.81[AMR][1000 genomes]
rs661544	0.81[ASN][1000 genomes]
rs662884	0.81[ASN][1000 genomes]
rs72636541	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72636556	0.95[ASN][1000 genomes]
rs72636562	0.93[ASN][1000 genomes]
rs72636570	0.95[ASN][1000 genomes]
rs7316996	0.87[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7318892	0.87[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7323408	0.88[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7331211	0.88[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7331549	0.88[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7332078	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7334320	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7335209	0.95[ASN][1000 genomes]
rs7339059	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7991405	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7999737	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8000018	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs816142	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs9516621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9525077	1.00[ASN][1000 genomes]
rs9525079	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9584324	0.88[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9590310	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9590344	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832690	chr13:96330757-96508077	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3509289	chr13:96461000-96505090	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3509290	chr13:96461000-96505090	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv832691	chr13:96478098-96659823	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv527566	chr13:96485609-96497070	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3099363	DZIP1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96476000-96502600	Weak transcription	Fetal Heart	heart
2	chr13:96478000-96498200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:96478000-96502600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:96478000-96502600	Weak transcription	Left Ventricle	heart
5	chr13:96478000-96568400	Weak transcription	Placenta	Placenta
6	chr13:96478200-96502200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:96478200-96502600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:96478200-96502600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:96478200-96502600	Weak transcription	Aorta	Aorta
10	chr13:96478200-96502600	Weak transcription	Fetal Stomach	stomach
11	chr13:96478200-96502600	Weak transcription	Gastric	stomach
12	chr13:96478200-96502600	Weak transcription	Ovary	ovary
13	chr13:96486400-96502400	Weak transcription	Osteobl	bone
14	chr13:96486400-96502600	Weak transcription	Hela-S3	cervix
15	chr13:96486400-96502600	Weak transcription	NHLF	lung
16	chr13:96486400-96503000	Weak transcription	NHDF-Ad	bronchial
17	chr13:96486600-96502200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:96486600-96502200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr13:96486600-96502400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:96486600-96502400	Weak transcription	HMEC	breast
21	chr13:96486600-96502600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:96486600-96502600	Weak transcription	NH-A	brain
23	chr13:96487000-96510000	Weak transcription	HUVEC	blood vessel
24	chr13:96490400-96502200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:96491000-96502200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:96491600-96500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:96492200-96500000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:96493600-96502200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr13:96493800-96497800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:96493800-96498000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:96493800-96502200	Weak transcription	Fetal Muscle Leg	muscle
32	chr13:96493800-96502400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr13:96493800-96502600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr13:96493800-96502600	Weak transcription	Pancreas	Pancrea
35	chr13:96494000-96498800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:96494000-96500200	Weak transcription	HSMM	muscle
37	chr13:96494200-96501200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr13:96494600-96499000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr13:96495000-96502200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr13:96495000-96590800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr13:96495400-96498800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:96495400-96499000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr13:96495800-96502200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr13:96495800-96502400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:96495800-96502600	Weak transcription	Adipose Nuclei	Adipose
46	chr13:96496200-96502600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:96496800-96497400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr13:96496800-96497400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr13:96496800-96498800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr13:96496800-96502600	Weak transcription	Brain Substantia Nigra	brain

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