Variant report

Variant	rs4776058
Chromosome Location	chr15:52880263-52880264
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	chr15:52878282..52881403-chr15:52901150..52903681,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1080731	1.00[CHB][hapmap]
rs10851521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11070907	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11070909	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs11853917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11855616	0.90[CHB][hapmap]
rs11857150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12102003	0.97[ASN][1000 genomes]
rs12232257	0.92[JPT][hapmap]
rs12898644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12902679	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];0.95[ASN][1000 genomes]
rs12903617	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12914502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs12915981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs13329393	0.90[CHB][hapmap]
rs17614559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863512	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs2288271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2414160	0.90[CHB][hapmap]
rs2414161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2414163	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2414166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2414167	1.00[CHB][hapmap]
rs35372377	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35505902	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4390542	1.00[CHB][hapmap]
rs4548810	0.95[CEU][hapmap];0.89[CHB][hapmap]
rs4774634	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4776059	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4776063	0.90[CHB][hapmap]
rs4776065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4776066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs62023352	0.84[ASN][1000 genomes]
rs7167494	0.90[CHB][hapmap]
rs8026800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8030141	0.89[CHB][hapmap]
rs933860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv1832020	chr15:52702400-52901914	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1047775	chr15:52822050-52912228	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv833006	chr15:52825954-53040462	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4776058	KIAA1370	cis	Lymphoblastoid	GTEx
rs4776058	KIAA1370	cis	uninvolved skin	skin_eQTL
rs4776058	Hs.11898	cis	multi-tissue	Pritchard
rs4776058	KIAA1370	cis	normal skin	skin_eQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52861200-52925200	Weak transcription	Stomach Mucosa	stomach
2	chr15:52861400-52883600	Weak transcription	Lung	lung
3	chr15:52861600-52880600	Weak transcription	Fetal Intestine Small	intestine
4	chr15:52861600-52883800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:52861600-52884000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr15:52861600-52885000	Weak transcription	Spleen	Spleen
7	chr15:52861600-52901600	Weak transcription	Esophagus	oesophagus
8	chr15:52861800-52882600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr15:52861800-52882600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:52861800-52883800	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:52861800-52884400	Weak transcription	Thymus	Thymus
12	chr15:52861800-52890600	Weak transcription	Fetal Kidney	kidney
13	chr15:52861800-52896800	Weak transcription	Hela-S3	cervix
14	chr15:52861800-52901600	Weak transcription	A549	lung
15	chr15:52861800-52908400	Weak transcription	Gastric	stomach
16	chr15:52861800-52934800	Weak transcription	Right Ventricle	heart
17	chr15:52862000-52901600	Weak transcription	Brain Angular Gyrus	brain
18	chr15:52866400-52889800	Weak transcription	Pancreas	Pancrea
19	chr15:52867400-52882400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:52869200-52880400	Weak transcription	Brain Germinal Matrix	brain
21	chr15:52869200-52890200	Weak transcription	Aorta	Aorta
22	chr15:52869400-52895000	Weak transcription	Fetal Heart	heart
23	chr15:52869400-52945400	Weak transcription	Small Intestine	intestine
24	chr15:52869800-52900000	Strong transcription	Primary B cells from cord blood	blood
25	chr15:52870200-52883600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr15:52870200-52905000	Weak transcription	HMEC	breast
27	chr15:52870600-52883800	Weak transcription	NHLF	lung
28	chr15:52871200-52890400	Weak transcription	GM12878-XiMat	blood
29	chr15:52871200-52901600	Weak transcription	Dnd41	blood
30	chr15:52871800-52902200	Weak transcription	Fetal Brain Male	brain
31	chr15:52871800-52967600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:52872000-52900200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr15:52872200-52883600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr15:52872200-52883800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr15:52872200-52933800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:52872400-52881600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr15:52872400-52884200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:52872400-52897800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr15:52872600-52884000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:52872600-52890200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:52872600-52891000	Weak transcription	HUVEC	blood vessel
42	chr15:52872600-52920800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:52872800-52883200	Weak transcription	NH-A	brain
44	chr15:52873400-52928000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:52873600-52885000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:52873600-52898800	Strong transcription	Adipose Nuclei	Adipose
47	chr15:52873800-52909600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr15:52874000-52883800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr15:52874200-52900000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:52874200-52917000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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