Variant report

Variant	rs16951334
Chromosome Location	chr13:96407088-96407089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:96324907..96328412-chr13:96405169..96408703,4	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10508027	0.82[CHD][hapmap]
rs11616953	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11618323	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12428035	1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[MEX][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12429254	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12429385	1.00[CHB][hapmap]
rs12430152	0.85[CEU][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.86[MEX][hapmap]
rs17879875	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17885081	0.85[EUR][1000 genomes]
rs2274292	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3087341	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3099362	0.81[CHD][hapmap];0.86[MEX][hapmap]
rs3101570	0.85[CEU][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.86[MEX][hapmap]
rs3886352	0.90[CHD][hapmap];0.80[GIH][hapmap];0.80[MEX][hapmap];0.85[EUR][1000 genomes]
rs41277668	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4383020	0.82[CHD][hapmap]
rs72636541	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7316996	0.85[CEU][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.86[MEX][hapmap];0.86[EUR][1000 genomes]
rs7318892	0.85[CEU][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.86[MEX][hapmap];0.86[EUR][1000 genomes]
rs7323408	0.85[CEU][hapmap]
rs7331211	0.85[CEU][hapmap]
rs7331549	0.85[CEU][hapmap]
rs7334320	0.82[CHD][hapmap];0.93[MEX][hapmap]
rs7339059	0.82[CHD][hapmap]
rs7991405	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs9516621	0.82[CHD][hapmap];0.93[MEX][hapmap]
rs9525079	0.82[CHD][hapmap];0.93[MEX][hapmap]
rs9584324	0.85[CEU][hapmap]
rs9590310	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16951334	UGGT2	cis	cerebellum	SCAN
rs16951334	DZIP1	cis	parietal	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96366400-96415800	Weak transcription	HSMMtube	muscle
2	chr13:96367600-96436000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:96367800-96430200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:96386800-96415200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr13:96386800-96415600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr13:96387000-96409600	Weak transcription	Liver	Liver
7	chr13:96387000-96412000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:96387000-96412800	Weak transcription	Dnd41	blood
9	chr13:96387000-96415400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr13:96387000-96428800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr13:96392800-96413000	Weak transcription	Fetal Muscle Leg	muscle
12	chr13:96393800-96409800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:96393800-96412800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr13:96393800-96415800	Weak transcription	Osteobl	bone
15	chr13:96394000-96412400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:96394000-96415200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr13:96394000-96435800	Weak transcription	A549	lung
18	chr13:96394400-96438400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr13:96394600-96412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr13:96394600-96413600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr13:96394600-96413800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr13:96394600-96435800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:96394800-96409600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr13:96394800-96412800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr13:96394800-96412800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr13:96394800-96414800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr13:96394800-96420600	Weak transcription	Esophagus	oesophagus
28	chr13:96395000-96409600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr13:96395200-96414000	Weak transcription	Fetal Stomach	stomach
30	chr13:96395400-96413000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:96395800-96408200	Weak transcription	Primary T cells from cord blood	blood
32	chr13:96396000-96411600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:96396000-96412200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr13:96396000-96414000	Weak transcription	Lung	lung
35	chr13:96398000-96409600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:96398200-96412400	Weak transcription	HSMM	muscle
37	chr13:96398200-96424400	Weak transcription	NHDF-Ad	bronchial
38	chr13:96398400-96410000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:96398400-96413000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:96398400-96415600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr13:96398400-96436200	Weak transcription	Colon Smooth Muscle	Colon
42	chr13:96398400-96439400	Weak transcription	Brain Hippocampus Middle	brain
43	chr13:96399800-96408200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr13:96400000-96410400	Weak transcription	Fetal Intestine Small	intestine
45	chr13:96400000-96415400	Weak transcription	HepG2	liver
46	chr13:96400200-96413000	Weak transcription	Fetal Intestine Large	intestine
47	chr13:96400200-96413600	Weak transcription	Ovary	ovary
48	chr13:96401800-96409600	Weak transcription	HMEC	breast
49	chr13:96401800-96413000	Weak transcription	Fetal Thymus	thymus
50	chr13:96403200-96421800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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