Variant report

Variant	rs13282591
Chromosome Location	chr8:90741846-90741847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr8:90741080-90741851	K562	blood:	n/a	n/a
2	POLR2A	chr8:90741167-90741939	K562	blood:	n/a	n/a
3	POLR2A	chr8:90741700-90741849	ProgFib	skin:	n/a	n/a
4	POLR2A	chr8:90741651-90741864	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:90741151-90741980	GM12878	blood:	n/a	n/a
6	RELA	chr8:90741190-90742754	GM12878	blood:	n/a	chr8:90742262-90742271 chr8:90742262-90742271
7	NFIC	chr8:90740962-90741914	GM12878	blood:	n/a	n/a
8	FOXM1	chr8:90741309-90741888	GM12878	blood:	n/a	n/a
9	ZNF384	chr8:90741171-90741856	K562	blood:	n/a	n/a
10	POLR2A	chr8:90740941-90742723	GM12878	blood:	n/a	n/a
11	RELA	chr8:90741226-90742637	GM12891	blood:	n/a	chr8:90742262-90742271 chr8:90742262-90742271
12	PAX5	chr8:90741359-90741883	GM12878	blood:	n/a	n/a
13	PAX5	chr8:90741317-90741849	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:90741204-90742014	GM12892	blood:	n/a	n/a
15	ZNF384	chr8:90741138-90742153	GM12878	blood:	n/a	n/a
16	ATF2	chr8:90741233-90741894	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:90741677-90741863	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:90741190-90742013	GM12892	blood:	n/a	n/a
19	POLR2A	chr8:90741331-90741850	GM12892	blood:	n/a	n/a
20	PML	chr8:90740789-90741846	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90740620..90742197-chr8:90743722..90745998,2	K562	blood:
2	chr8:90741497..90743886-chr8:90913667..90916372,2	MCF-7	breast:
3	chr8:90740621..90743258-chr8:90763138..90765800,2	K562	blood:
4	chr8:90741234..90743922-chr8:90995229..90998004,3	MCF-7	breast:
5	chr8:90739799..90743850-chr8:90767861..90774313,11	K562	blood:
6	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
7	chr8:90732925..90737686-chr8:90738407..90742912,6	K562	blood:
8	chr8:90740411..90742010-chr8:90994882..90996914,2	K562	blood:
9	chr8:90737934..90739593-chr8:90739830..90742161,2	K562	blood:
10	chr8:90740691..90742554-chr8:91012981..91015197,3	MCF-7	breast:
11	chr8:90739799..90744088-chr8:90767861..90774313,10	K562	blood:
12	chr8:90740510..90743977-chr8:90993488..90997809,6	K562	blood:
13	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
14	chr8:90736651..90739528-chr8:90739958..90742509,3	MCF-7	breast:
15	chr8:90734630..90736246-chr8:90739978..90742912,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251136	TF binding region
ENSG00000164823	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10956243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276910	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218898	0.93[ASN][1000 genomes]
rs218904	0.86[ASN][1000 genomes]
rs39510	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39760	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39764	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39765	0.86[EUR][1000 genomes];1.00[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	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
5	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
2	chr8:90717800-90747800	Weak transcription	Ovary	ovary
3	chr8:90720800-90742400	Weak transcription	Fetal Lung	lung
4	chr8:90738600-90742400	Weak transcription	Aorta	Aorta
5	chr8:90738600-90749000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:90738600-90749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:90739000-90749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:90739200-90744800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:90739200-90748800	Weak transcription	A549	lung
10	chr8:90739400-90745400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:90739600-90742000	Weak transcription	HMEC	breast
12	chr8:90739600-90743000	Weak transcription	HSMM	muscle
13	chr8:90740000-90742600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:90740400-90742000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:90740400-90742600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:90740400-90742800	Enhancers	Fetal Intestine Large	intestine
17	chr8:90740600-90742200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr8:90740800-90742000	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:90740800-90742000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:90740800-90742200	Enhancers	Primary B cells from cord blood	blood
21	chr8:90740800-90742800	Enhancers	Stomach Mucosa	stomach
22	chr8:90741000-90742600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr8:90741000-90745200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:90741200-90742000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr8:90741200-90742000	Enhancers	HUVEC	blood vessel
26	chr8:90741200-90742200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:90741200-90742600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr8:90741200-90742600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr8:90741400-90742000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:90741400-90742000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:90741400-90742000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:90741400-90742000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:90741400-90742200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:90741400-90742400	Active TSS	GM12878-XiMat	blood
35	chr8:90741400-90742400	Active TSS	K562	blood
36	chr8:90741400-90742600	Active TSS	Psoas Muscle	Psoas
37	chr8:90741400-90742800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr8:90741400-90742800	Active TSS	Adipose Nuclei	Adipose
39	chr8:90741400-90742800	Active TSS	Duodenum Mucosa	Duodenum
40	chr8:90741400-90743000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:90741400-90751400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr8:90741600-90742000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:90741600-90742000	Active TSS	Left Ventricle	heart
44	chr8:90741600-90742200	Active TSS	Placenta	Placenta
45	chr8:90741600-90742200	Active TSS	Hela-S3	cervix
46	chr8:90741600-90742400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:90741600-90742400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:90741600-90742400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:90741600-90742400	Active TSS	Liver	Liver
50	chr8:90741600-90742600	Weak transcription	Fetal Intestine Small	intestine

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