Variant report

Variant	rs16951407
Chromosome Location	chr17:15252932-15252933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15182819..15184688-chr17:15250956..15253066,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1014027	0.85[CEU][hapmap];0.86[CHB][hapmap]
rs12600385	0.88[ASW][hapmap];0.86[CEU][hapmap];0.85[CHB][hapmap];0.90[GIH][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap]
rs1380182	0.81[CEU][hapmap];0.92[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1380184	0.86[CEU][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap]
rs1903112	0.90[CEU][hapmap]
rs2168999	0.82[ASN][1000 genomes]
rs2286516	0.80[CEU][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap]
rs55969697	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7209263	0.81[CEU][hapmap];0.84[CHD][hapmap]
rs7213020	0.86[CEU][hapmap];0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs7223727	0.88[ASW][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7224677	0.81[CEU][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap]
rs725341	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs9902480	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv907703	chr17:15199907-15370701	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers 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	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16951407	UBB	cis	cerebellum	SCAN
rs16951407	LLGL1	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15246400-15254600	Weak transcription	Placenta	Placenta
2	chr17:15247600-15255000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:15248000-15254400	Weak transcription	NHDF-Ad	bronchial
4	chr17:15249000-15253400	Enhancers	Fetal Intestine Large	intestine
5	chr17:15249000-15254000	Enhancers	Fetal Intestine Small	intestine
6	chr17:15249800-15255000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr17:15250800-15253200	Enhancers	Duodenum Mucosa	Duodenum
8	chr17:15251600-15254200	Weak transcription	Brain Substantia Nigra	brain
9	chr17:15251600-15254200	Weak transcription	Fetal Lung	lung
10	chr17:15251600-15254800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr17:15251600-15254800	Enhancers	Colon Smooth Muscle	Colon
12	chr17:15251600-15254800	Weak transcription	Fetal Stomach	stomach
13	chr17:15251800-15253200	Weak transcription	HSMMtube	muscle
14	chr17:15251800-15254600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:15251800-15254600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:15251800-15254600	Weak transcription	Adipose Nuclei	Adipose
17	chr17:15251800-15254800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:15251800-15254800	Weak transcription	Osteobl	bone
19	chr17:15251800-15255000	Weak transcription	HMEC	breast
20	chr17:15252000-15254200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr17:15252000-15254600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr17:15252000-15254800	Weak transcription	Psoas Muscle	Psoas
23	chr17:15252000-15254800	Weak transcription	A549	lung
24	chr17:15252200-15254800	Weak transcription	Colonic Mucosa	Colon
25	chr17:15252400-15254600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:15252400-15254800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr17:15252400-15255000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr17:15252400-15255000	Weak transcription	Small Intestine	intestine
29	chr17:15252600-15253000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:15252600-15253600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr17:15252600-15254200	Weak transcription	NHEK	skin
32	chr17:15252800-15253600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:15252800-15253600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr17:15252800-15254800	Weak transcription	Hela-S3	cervix

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