Variant report

Variant	rs808263
Chromosome Location	chr10:116479396-116479397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10885595	0.91[CHB][hapmap]
rs10885600	0.82[ASN][1000 genomes]
rs10885601	0.97[ASN][1000 genomes]
rs10885603	0.92[ASN][1000 genomes]
rs10885606	0.81[ASN][1000 genomes]
rs11196864	0.95[CHB][hapmap]
rs11196865	0.83[CHB][hapmap]
rs11196872	0.90[CHB][hapmap]
rs11196874	0.91[CHB][hapmap]
rs11196875	0.91[CHB][hapmap]
rs11196903	0.85[ASN][1000 genomes]
rs11196904	0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11196905	0.84[CHD][hapmap]
rs12220314	0.81[ASN][1000 genomes]
rs2420064	0.80[ASN][1000 genomes]
rs34253301	0.80[ASN][1000 genomes]
rs34621187	0.81[ASN][1000 genomes]
rs61869110	0.81[ASN][1000 genomes]
rs67774070	0.81[ASN][1000 genomes]
rs703349	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7075935	0.91[CHB][hapmap]
rs7077074	0.81[ASN][1000 genomes]
rs7080397	0.85[ASN][1000 genomes]
rs7082487	0.81[ASN][1000 genomes]
rs7095432	0.81[ASN][1000 genomes]
rs7908984	0.95[JPT][hapmap]
rs7912645	0.82[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs808251	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs808294	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs808295	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs808296	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs808298	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs808299	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs808301	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs808305	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs808306	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs808307	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs808314	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs808322	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs808332	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs808339	0.93[EUR][1000 genomes]
rs808340	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs808342	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs808344	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs808346	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs808350	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs808351	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs808352	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs808353	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808355	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808357	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882870	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1042170	chr10:116455043-116504871	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1046888	chr10:116455043-116505640	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1038822	chr10:116455647-116497204	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs808263	PNLIP	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116474200-116482800	Weak transcription	Brain Angular Gyrus	brain
2	chr10:116474400-116480600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr10:116474400-116480800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:116474400-116482200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:116474400-116486200	Weak transcription	Lung	lung
6	chr10:116475000-116483400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:116475200-116480400	Weak transcription	HSMMtube	muscle
8	chr10:116475400-116480600	Weak transcription	Aorta	Aorta
9	chr10:116475400-116480800	Weak transcription	Gastric	stomach
10	chr10:116475600-116484600	Enhancers	Adipose Nuclei	Adipose
11	chr10:116475800-116479400	Enhancers	Hela-S3	cervix
12	chr10:116475800-116480200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr10:116475800-116480600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr10:116476200-116483200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:116476600-116484800	Enhancers	Liver	Liver
16	chr10:116477200-116480400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:116477400-116480600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr10:116477400-116481000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr10:116477400-116486200	Weak transcription	Right Ventricle	heart
20	chr10:116477600-116480600	Weak transcription	Right Atrium	heart
21	chr10:116478200-116479400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:116478200-116479400	Enhancers	HepG2	liver
23	chr10:116478200-116479600	Enhancers	Duodenum Mucosa	Duodenum
24	chr10:116478200-116479600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr10:116478200-116480400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:116478400-116479800	Enhancers	Brain Substantia Nigra	brain
27	chr10:116478400-116480600	Weak transcription	Left Ventricle	heart
28	chr10:116478400-116480800	Weak transcription	Fetal Muscle Leg	muscle
29	chr10:116478600-116479400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr10:116478600-116479400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr10:116478600-116479600	Enhancers	A549	lung
32	chr10:116478800-116480200	Enhancers	Fetal Heart	heart
33	chr10:116478800-116484600	Enhancers	Stomach Mucosa	stomach
34	chr10:116479000-116479400	Enhancers	Brain Anterior Caudate	brain
35	chr10:116479000-116479400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr10:116479000-116479400	Enhancers	Fetal Intestine Small	intestine
37	chr10:116479000-116479400	Enhancers	Pancreas	Pancrea
38	chr10:116479000-116479400	Enhancers	Psoas Muscle	Psoas
39	chr10:116479200-116479400	Enhancers	Ovary	ovary
40	chr10:116479200-116479400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
41	chr10:116479200-116480600	Weak transcription	Brain Hippocampus Middle	brain
42	chr10:116479200-116480800	Weak transcription	Small Intestine	intestine

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