Variant report

Variant	rs17091547
Chromosome Location	chr8:19675515-19675516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:283)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr8:19675429-19675923	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:19674261-19675933	MCF-7	breast:	n/a	n/a
3	POLR2A	chr8:19674062-19675954	K562	blood:	n/a	n/a
4	RFX5	chr8:19675426-19675889	GM12878	blood:	n/a	chr8:19675658-19675673
5	MXI1	chr8:19674680-19675879	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr8:19674183-19676012	PBDE	blood:	n/a	n/a
7	TAF1	chr8:19674307-19675954	ECC-1	luminal epithelium:	n/a	n/a
8	ELF1	chr8:19675405-19675900	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:19674827-19675930	GM12891	blood:	n/a	n/a
10	RAD21	chr8:19675484-19675953	Hela-S3	cervix:	n/a	n/a
11	YY1	chr8:19675403-19675933	GM12892	blood:	n/a	chr8:19675458-19675477
12	WRNIP1	chr8:19675468-19676027	GM12878	blood:	n/a	n/a
13	MYC	chr8:19674348-19675902	Hela-S3	cervix:	n/a	chr8:19674517-19674527
14	SIN3AK20	chr8:19675506-19676042	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr8:19674292-19675893	MCF-7	breast:	n/a	n/a
16	YY1	chr8:19675312-19675783	A549	lung:	n/a	chr8:19675458-19675477
17	TAF1	chr8:19674232-19675882	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr8:19674781-19675875	GM12878	blood:	n/a	n/a
19	JUN	chr8:19674222-19676106	K562	blood:	n/a	chr8:19674876-19674890
20	MAX	chr8:19674287-19675966	GM12878	blood:	n/a	chr8:19674517-19674527
21	EP300	chr8:19675459-19675882	GM12878	blood:	n/a	n/a
22	POLR2A	chr8:19675342-19675972	GM12892	blood:	n/a	n/a
23	POLR2A	chr8:19674231-19675966	K562	blood:	n/a	n/a
24	POLR2A	chr8:19674288-19675869	A549	lung:	n/a	n/a
25	MYC	chr8:19675515-19675527	MCF-7	breast:	n/a	n/a
26	POLR2A	chr8:19674279-19676054	NB4	blood:	n/a	n/a
27	MAX	chr8:19674401-19675975	HepG2	liver:	n/a	chr8:19674517-19674527
28	MYC	chr8:19674221-19676002	K562	blood:	n/a	chr8:19674517-19674527
29	MYC	chr8:19675512-19675840	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr8:19675316-19675806	H1-hESC	embryonic stem cell:	n/a	n/a
31	HEY1	chr8:19675400-19675801	HepG2	liver:	n/a	n/a
32	POLR2A	chr8:19674129-19675914	GM12878	blood:	n/a	n/a
33	EBF1	chr8:19675485-19675839	GM12878	blood:	n/a	n/a
34	POLR2A	chr8:19675285-19676023	GM12878	blood:	n/a	n/a
35	PML	chr8:19674225-19676047	GM12878	blood:	n/a	n/a
36	POLR2A	chr8:19675389-19675863	SK-N-SH	brain:	n/a	n/a
37	RUNX3	chr8:19675305-19676014	GM12878	blood:	n/a	n/a
38	CTCF	chr8:19675400-19675550	K562	blood:	n/a	n/a
39	TAF1	chr8:19675504-19675829	SK-N-SH	brain:	n/a	n/a
40	HEY1	chr8:19675324-19675903	HepG2	liver:	n/a	n/a
41	MTA3	chr8:19675351-19675978	GM12878	blood:	n/a	n/a
42	POLR2A	chr8:19674314-19675935	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr8:19674275-19676005	GM12892	blood:	n/a	n/a
44	MAX	chr8:19674326-19675983	Hela-S3	cervix:	n/a	chr8:19674517-19674527
45	MXI1	chr8:19674173-19675985	Hela-S3	cervix:	n/a	n/a
46	BHLHE40	chr8:19674387-19675965	HepG2	liver:	n/a	n/a
47	E2F6	chr8:19674353-19675990	K562	blood:	n/a	chr8:19674513-19674525
48	MAX	chr8:19674202-19676166	NB4	blood:	n/a	chr8:19674517-19674527
49	MAZ	chr8:19675513-19675806	HepG2	liver:	n/a	n/a
50	MAX	chr8:19675312-19676037	SK-N-SH	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:57916263..57917052-chr8:19675358..19676030,2	Hela-S3	cervix:
2	chr8:19674243..19675884-chr8:19680646..19683864,3	MCF-7	breast:
3	chr8:19675302..19676840-chr8:19775032..19777867,2	K562	blood:
4	chr8:19675514..19677492-chr8:19691174..19693357,2	MCF-7	breast:
5	chr8:19674757..19677268-chr8:19687110..19688906,2	K562	blood:
6	chr16:47497589..47499344-chr8:19675035..19676685,2	K562	blood:
7	chr8:19674069..19678740-chr8:19703160..19710631,7	K562	blood:
8	chr8:19673492..19676303-chr8:19685537..19688131,3	MCF-7	breast:

No data

Variant related genes	Relation type
INTS10	TF binding region
ENSG00000129636	Chromatin interaction
ENSG00000104613	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10283069	0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs12542375	0.83[AFR][1000 genomes]
rs17091543	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17091544	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17091775	1.00[MEX][hapmap]
rs17116619	1.00[MEX][hapmap]
rs4294198	0.96[AFR][1000 genomes]
rs7832092	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3425950	chr8:19673522-19676520	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19673600-19675800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:19673600-19675800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:19673600-19676000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:19673800-19675600	Active TSS	Brain Germinal Matrix	brain
5	chr8:19673800-19675600	Active TSS	Fetal Brain Female	brain
6	chr8:19673800-19675800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:19673800-19675800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr8:19673800-19675800	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr8:19673800-19675800	Active TSS	Rectal Smooth Muscle	rectum
10	chr8:19673800-19675800	Active TSS	HSMM	muscle
11	chr8:19673800-19676000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:19673800-19676000	Active TSS	Colonic Mucosa	Colon
13	chr8:19673800-19676000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr8:19673800-19676200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:19673800-19676200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:19673800-19676200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:19673800-19676200	Active TSS	Brain Angular Gyrus	brain
18	chr8:19673800-19676200	Active TSS	Fetal Intestine Large	intestine
19	chr8:19673800-19676200	Active TSS	GM12878-XiMat	blood
20	chr8:19673800-19676200	Active TSS	NH-A	brain
21	chr8:19673800-19676400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:19673800-19676800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:19674000-19675600	Active TSS	Duodenum Mucosa	Duodenum
24	chr8:19674000-19675600	Active TSS	Fetal Brain Male	brain
25	chr8:19674000-19675600	Active TSS	Fetal Lung	lung
26	chr8:19674000-19675600	Active TSS	Right Ventricle	heart
27	chr8:19674000-19675600	Active TSS	Thymus	Thymus
28	chr8:19674000-19675600	Active TSS	NHEK	skin
29	chr8:19674000-19675800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:19674000-19675800	Active TSS	Brain Anterior Caudate	brain
31	chr8:19674000-19675800	Active TSS	Brain Cingulate Gyrus	brain
32	chr8:19674000-19675800	Active TSS	Colon Smooth Muscle	Colon
33	chr8:19674000-19675800	Active TSS	Fetal Kidney	kidney
34	chr8:19674000-19676000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:19674000-19676000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr8:19674000-19676000	Active TSS	Aorta	Aorta
37	chr8:19674000-19676000	Active TSS	Ovary	ovary
38	chr8:19674000-19676000	Active TSS	Psoas Muscle	Psoas
39	chr8:19674000-19676200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:19674000-19676200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:19674000-19676200	Active TSS	Brain Substantia Nigra	brain
42	chr8:19674000-19676200	Active TSS	Fetal Intestine Small	intestine
43	chr8:19674000-19676200	Active TSS	A549	lung
44	chr8:19674000-19676200	Active TSS	HSMMtube	muscle
45	chr8:19674000-19676200	Active TSS	K562	blood
46	chr8:19674000-19676200	Active TSS	NHDF-Ad	bronchial
47	chr8:19674000-19676400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:19674000-19676400	Active TSS	Brain Hippocampus Middle	brain
49	chr8:19674000-19676400	Active TSS	NHLF	lung
50	chr8:19674000-19676600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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