Variant report

Variant	rs4585710
Chromosome Location	chr8:11303828-11303829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr8:11303509-11304788	SK-N-SH	brain:	n/a	n/a
2	EP300	chr8:11303563-11305389	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11303828-11303878	U87	brain:	n/a
2	chr8:11303828-11303878	T-47D	breast:	n/a
3	chr8:11303828-11303878	LNCaP	prostate:	n/a
4	chr8:11303828-11303878	HMEC	breast:	n/a
5	chr8:11303828-11303878	NHDF-neo	bronchial:	n/a
6	chr8:11303828-11303878	IMR90	lung:	fetal
7	chr8:11303828-11303878	HCM	heart:	n/a
8	chr8:11303828-11303878	H1-hESC	embryonic stem cell:	embryo
9	chr8:11303828-11303878	HCT-116	colon:	n/a
10	chr8:11303828-11303878	CMK	blood:	n/a
11	chr8:11303828-11303878	HPAEpiC	pulmonary alveolar:	n/a
12	chr8:11303828-11303878	NHBE	bronchial:	n/a
13	chr8:11303828-11303878	Hela-S3	cervix:	n/a
14	chr8:11303828-11303878	HRPEpiC	eye:	n/a
15	chr8:11303828-11303878	PrEC	prostate:	n/a
16	chr8:11303828-11303878	NH-A	brain:	n/a
17	chr8:11303828-11303878	GM12878	blood:	n/a
18	chr8:11303828-11303878	SKMC	muscle:	n/a
19	chr8:11303828-11303878	HUVEC	blood vessel:	n/a
20	chr8:11303828-11303878	HRE	kidney:	n/a
21	chr8:11303828-11303878	HRCEpiC	kidney:	n/a
22	chr8:11303828-11303878	GM19239	blood:	n/a
23	chr8:11303828-11303878	SK-N-SH	brain:	n/a
24	chr8:11303828-11303878	SK-N-MC	brain:	n/a
25	chr8:11303828-11303878	BE2_C	brain:	n/a
26	chr8:11303828-11303878	SAEC	small airway:	n/a
27	chr8:11303828-11303878	AG09309	skin:	n/a
28	chr8:11303828-11303878	K562	blood:	n/a
29	chr8:11303828-11303878	Jurkat	blood:	n/a
30	chr8:11303828-11303878	HL-60	blood:	n/a
31	chr8:11303828-11303878	A549	lung:	n/a
32	chr8:11303828-11303878	AG04450	lung:	fetal
33	chr8:11303828-11303878	SK-N-SH_RA	brain:	n/a
34	chr8:11303828-11303878	HCPEpiC	choroid plexus:	n/a
35	chr8:11303828-11303878	HEK293	kidney:	embryo
36	chr8:11303828-11303878	GM12892	blood:	n/a
37	chr8:11303828-11303878	HCF	heart:	n/a
38	chr8:11303828-11303878	Hepatocyte	liver:	n/a
39	chr8:11303828-11303878	HNPCEpiC	eye:	n/a
40	chr8:11303828-11303878	PANC-1	pancreas:	n/a
41	chr8:11303828-11303878	HIPEpiC	eye:	n/a
42	chr8:11303828-11303878	AG04449	skin:	fetal
43	chr8:11303828-11303878	NB4	blood:	n/a
44	chr8:11303828-11303878	PFSK-1	brain:	n/a
45	chr8:11303828-11303878	ECC-1	luminal epithelium:	n/a
46	chr8:11303828-11303878	BJ	skin:	n/a
47	chr8:11303828-11303878	RPTEC	kidney:	n/a
48	chr8:11303828-11303878	GM12891	blood:	n/a
49	chr8:11303828-11303878	AG10803	skin:	n/a
50	chr8:11303828-11303878	GM06990	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11303566..11306251-chr8:11321499..11323964,2	MCF-7	breast:
2	chr8:11303373..11305446-chr8:11310341..11312400,2	K562	blood:
3	chr8:11301164..11304076-chr8:11323710..11325324,2	K562	blood:

No data

Variant related genes	Relation type
FAM167A	TF binding region
FAM167A	CpG island
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10088942	1.00[ASN][1000 genomes]
rs10089185	1.00[ASN][1000 genomes]
rs10099562	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10099909	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10111303	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438815	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13439101	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17153240	1.00[ASN][1000 genomes]
rs28448403	1.00[ASN][1000 genomes]
rs28479369	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28606038	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3021514	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5011845	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008392	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7844834	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11280600-11308800	Weak transcription	Primary B cells from cord blood	blood
2	chr8:11286200-11306400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:11287800-11313600	Weak transcription	Right Atrium	heart
4	chr8:11289800-11305800	Weak transcription	Osteobl	bone
5	chr8:11292400-11313000	Weak transcription	Pancreas	Pancrea
6	chr8:11296200-11305800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:11296200-11319200	Enhancers	Fetal Thymus	thymus
8	chr8:11298200-11305800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:11298200-11306000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:11298200-11306000	Weak transcription	Fetal Heart	heart
11	chr8:11298400-11306000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:11298400-11306000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:11298800-11308600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:11299200-11306000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:11299400-11306600	Enhancers	Stomach Mucosa	stomach
16	chr8:11299800-11304600	Enhancers	Thymus	Thymus
17	chr8:11300600-11305800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:11301200-11304000	Weak transcription	Esophagus	oesophagus
19	chr8:11301200-11305800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:11301400-11306200	Weak transcription	GM12878-XiMat	blood
21	chr8:11301800-11305800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:11302800-11305800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:11302800-11306400	Weak transcription	Lung	lung
24	chr8:11303000-11304000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:11303200-11304400	Enhancers	Brain Substantia Nigra	brain
26	chr8:11303200-11305800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:11303200-11306000	Weak transcription	Gastric	stomach
28	chr8:11303400-11304600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:11303400-11305800	Weak transcription	NHEK	skin
30	chr8:11303600-11305200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:11303600-11305200	Bivalent Enhancer	Placenta	Placenta
32	chr8:11303600-11323200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr8:11303800-11304000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:11303800-11304400	Enhancers	Brain Angular Gyrus	brain
35	chr8:11303800-11306800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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