Variant report

Variant	rs13259216
Chromosome Location	chr8:8673601-8673602
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8672193..8674340-chr8:8678508..8680939,2	K562	blood:

Variant related genes	Relation type
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10088933	0.98[ASN][1000 genomes]
rs1039915	0.96[CEU][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1039916	0.89[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11249891	0.83[EUR][1000 genomes]
rs11249893	0.87[EUR][1000 genomes]
rs11775523	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11777085	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784052	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544992	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12545499	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12547493	0.92[CEU][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12677543	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12682352	0.96[CEU][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13259070	0.84[EUR][1000 genomes]
rs1510934	0.86[JPT][hapmap];0.82[MKK][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs1533058	1.00[ASW][hapmap];0.93[CEU][hapmap];0.81[CHB][hapmap];0.93[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1533059	0.93[CEU][hapmap];0.81[CHB][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2048419	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2271342	0.81[EUR][1000 genomes]
rs2409092	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2409096	0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs2428	0.92[CEU][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes]
rs332040	0.85[CEU][hapmap];0.89[MEX][hapmap]
rs35039922	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35431455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3789849	0.84[EUR][1000 genomes]
rs408459	0.89[MEX][hapmap]
rs4382480	0.89[CEU][hapmap];0.90[MEX][hapmap]
rs4481596	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4840362	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841040	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4841042	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4841043	0.92[ASN][1000 genomes]
rs4841045	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841051	0.89[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4841054	0.86[JPT][hapmap]
rs57312668	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59046059	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60315134	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693109	0.83[AMR][1000 genomes]
rs6994038	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7823757	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832968	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs882462	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs907180	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs907181	0.86[JPT][hapmap]
rs907183	0.89[CEU][hapmap];0.89[MEX][hapmap]
rs9329167	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh 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	9 gene(s)	inside rSNPs	diseases
8	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	esv1824870	chr8:8583943-8699382	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv890338	chr8:8669622-8707970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs13259216	PRSS55	cis	cerebellum	SCAN
rs13259216	MFHAS1	cis	cerebellum	SCAN
rs13259216	FLJ10661	cis	cerebellum	SCAN
rs13259216	TDH	cis	cerebellum	SCAN
rs13259216	PPP1R3B	cis	cerebellum	SCAN
rs13259216	RP11-62H7.2	cis	Thyroid	GTEx
rs13259216	SGK223	cis	Thyroid	GTEx
rs13259216	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs13259216	FAM86B3P	cis	Esophagus Mucosa	GTEx
rs13259216	CTSB	cis	cerebellum	SCAN
rs13259216	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8637600-8679800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:8653800-8674800	Weak transcription	Brain Germinal Matrix	brain
3	chr8:8655200-8680600	Weak transcription	Colonic Mucosa	Colon
4	chr8:8655600-8685600	Weak transcription	Fetal Brain Female	brain
5	chr8:8658400-8675200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:8658400-8687200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:8660200-8684400	Weak transcription	HSMMtube	muscle
8	chr8:8662600-8683400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:8662800-8679800	Weak transcription	Brain Angular Gyrus	brain
10	chr8:8663400-8691800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:8663600-8681400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:8664000-8678600	Weak transcription	Spleen	Spleen
13	chr8:8664000-8682400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:8664200-8675000	Weak transcription	Hela-S3	cervix
15	chr8:8664200-8681200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:8664200-8691400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:8664400-8675200	Weak transcription	Pancreas	Pancrea
18	chr8:8664400-8691800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:8664600-8683200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:8667000-8680000	Weak transcription	Esophagus	oesophagus
21	chr8:8667200-8675000	Weak transcription	Gastric	stomach
22	chr8:8667200-8678400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:8667200-8683600	Weak transcription	NHDF-Ad	bronchial
24	chr8:8667200-8685800	Weak transcription	Right Atrium	heart
25	chr8:8667200-8686200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:8667200-8699200	Weak transcription	Aorta	Aorta
27	chr8:8667200-8701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:8667400-8677800	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:8667400-8678200	Weak transcription	Adipose Nuclei	Adipose
30	chr8:8667400-8678400	Weak transcription	A549	lung
31	chr8:8667400-8679000	Weak transcription	NHLF	lung
32	chr8:8667400-8685400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:8667400-8686000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:8667400-8693400	Weak transcription	Small Intestine	intestine
35	chr8:8667600-8679200	Weak transcription	HepG2	liver
36	chr8:8667600-8679400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:8667600-8679800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:8667600-8685800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:8667600-8701000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:8668000-8675200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:8668200-8681400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:8668600-8675000	Weak transcription	Ovary	ovary
43	chr8:8668600-8675400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:8668600-8679400	Weak transcription	Fetal Brain Male	brain
45	chr8:8668600-8679800	Weak transcription	Fetal Kidney	kidney
46	chr8:8669400-8675000	Weak transcription	Left Ventricle	heart
47	chr8:8669600-8674600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:8669800-8677200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:8670000-8675000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:8670000-8675000	Weak transcription	Lung	lung

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