Variant report

Variant	rs1567398
Chromosome Location	chr8:8726804-8726805
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8726269..8728991-chr8:8747261..8749561,2	K562	blood:
2	chr8:8716471..8722141-chr8:8722765..8728048,6	K562	blood:

Variant related genes	Relation type
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1039916	0.91[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs12677550	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs12679021	0.82[CHB][hapmap]
rs12682352	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs13254903	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1821007	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1876836	0.89[JPT][hapmap]
rs2428	0.82[CHB][hapmap]
rs332037	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs332039	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs332040	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3789843	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3827806	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs408459	0.82[CHB][hapmap];0.80[CHD][hapmap]
rs435953	0.83[ASN][1000 genomes]
rs437895	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4382480	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.97[ASN][1000 genomes]
rs440788	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4523255	0.81[CEU][hapmap]
rs4841051	0.91[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs4841055	0.91[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs4841058	0.82[CHB][hapmap]
rs60707155	0.80[EUR][1000 genomes]
rs6601265	0.82[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap]
rs7017599	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907183	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	esv2757257	chr8:8707639-8747894	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv2759591	chr8:8707639-8747894	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv818595	chr8:8712895-8752684	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv1030977	chr8:8725992-8739514	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1026305	chr8:8726128-8739514	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs1567398	RP11-62H7.2	cis	Esophagus Muscularis	GTEx
rs1567398	C8orf13	cis	multi-tissue	Pritchard
rs1567398	SGK223	cis	Thyroid	GTEx
rs1567398	FLJ10661	cis	cerebellum	SCAN
rs1567398	CLDN23	cis	multi-tissue	Pritchard
rs1567398	MFHAS1	cis	cerebellum	SCAN
rs1567398	DEFB136	cis	parietal	SCAN
rs1567398	CTSB	cis	cerebellum	SCAN
rs1567398	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs1567398	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs1567398	CTA-398F10.2	cis	Skin Sun Exposed Lower leg	GTEx
rs1567398	TDH	cis	cerebellum	SCAN
rs1567398	FAM167A	cis	parietal	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8699400-8729600	Weak transcription	Fetal Stomach	stomach
2	chr8:8709400-8729400	Weak transcription	NHLF	lung
3	chr8:8709600-8730000	Weak transcription	HSMMtube	muscle
4	chr8:8714400-8728000	Weak transcription	Ovary	ovary
5	chr8:8714400-8730000	Weak transcription	Aorta	Aorta
6	chr8:8714800-8728400	Weak transcription	Fetal Lung	lung
7	chr8:8714800-8730000	Weak transcription	Brain Angular Gyrus	brain
8	chr8:8717800-8735200	Weak transcription	Esophagus	oesophagus
9	chr8:8718000-8730000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:8718200-8728200	Weak transcription	Lung	lung
11	chr8:8718200-8729800	Weak transcription	Right Ventricle	heart
12	chr8:8718400-8742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:8718600-8728000	Weak transcription	Osteobl	bone
14	chr8:8718600-8729400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:8718600-8729800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:8718800-8727200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:8718800-8730400	Weak transcription	HSMM	muscle
18	chr8:8719000-8730400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:8719400-8727200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:8719800-8729400	Weak transcription	NH-A	brain
21	chr8:8721800-8727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:8721800-8728200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:8722000-8727200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:8722000-8727200	Weak transcription	Placenta	Placenta
25	chr8:8722000-8727600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:8722200-8727000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:8722400-8727200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:8722600-8727600	Weak transcription	HepG2	liver
29	chr8:8723600-8727600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:8723600-8728200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:8723600-8729200	Weak transcription	Gastric	stomach
32	chr8:8723600-8729200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:8723800-8727800	Weak transcription	Liver	Liver
34	chr8:8723800-8728000	Weak transcription	Adipose Nuclei	Adipose
35	chr8:8723800-8728200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:8724000-8728400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:8724200-8728000	Weak transcription	Psoas Muscle	Psoas
38	chr8:8724200-8728200	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:8724400-8727600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:8724400-8727600	Weak transcription	NHDF-Ad	bronchial
41	chr8:8724400-8728600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:8724600-8735000	Weak transcription	Brain Substantia Nigra	brain
43	chr8:8725200-8730000	Enhancers	Fetal Thymus	thymus
44	chr8:8725400-8730000	Enhancers	Fetal Brain Male	brain
45	chr8:8725600-8727200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:8725600-8727400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr8:8725800-8727400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:8725800-8727600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr8:8725800-8727600	Enhancers	Fetal Kidney	kidney
50	chr8:8725800-8728200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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