Variant report

Variant	rs55914427
Chromosome Location	chr8:69766534-69766535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:69766420-69766570	GM12869	blood:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
2	CTCF	chr8:69766440-69766590	HCT-116	colon:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
3	CTCF	chr8:69766425-69766570	GM10248	blood:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
4	CTCF	chr8:69766201-69766773	MCF-7	breast:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
5	CTCF	chr8:69766400-69766550	WI-38	lung:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
6	CTCF	chr8:69766460-69766610	HA-sp	spinal cord:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
7	RAD21	chr8:69766416-69766773	HepG2	liver:	n/a	chr8:69766506-69766525
8	RAD21	chr8:69766345-69766734	A549	lung:	n/a	chr8:69766506-69766525
9	CTCF	chr8:69766440-69766590	HMEC	breast:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
10	MYC	chr8:69766363-69766683	MCF10A-Er-Src	breast:	n/a	n/a
11	CTCF	chr8:69766460-69766610	SK-N-SH_RA	brain:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
12	CTCF	chr8:69766480-69766630	MCF-7	breast:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
13	CTCF	chr8:69766440-69766590	HRPEpiC	eye:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
14	CTCF	chr8:69766420-69766570	GM12865	blood:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
15	CTCF	chr8:69766440-69766590	GM12871	blood:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
16	MAX	chr8:69766273-69767185	MCF-7	breast:	n/a	n/a
17	MAX	chr8:69766428-69766628	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr8:69766460-69766610	GM12867	blood:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
19	CTCF	chr8:69766429-69766591	NHEK	skin:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
20	MAFF	chr8:69766500-69766702	K562	blood:	n/a	chr8:69766655-69766673 chr8:69766654-69766668
21	CTCF	chr8:69766312-69766732	GM12878	blood:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
22	FOS	chr8:69766426-69766683	MCF10A-Er-Src	breast:	n/a	chr8:69766452-69766461
23	CTCF	chr8:69766400-69766550	GM12864	blood:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
24	CTCF	chr8:69766440-69766590	HMF	breast:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
25	ESR1	chr8:69765313-69767175	T-47D	breast:	n/a	chr8:69766861-69766878
26	FOXP2	chr8:69766312-69766647	SK-N-MC	brain:	n/a	n/a
27	CTCF	chr8:69766420-69766570	HAc	cerebellar:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
28	CTCF	chr8:69766420-69766570	HRE	kidney:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
29	SIN3AK20	chr8:69766244-69767278	MCF-7	breast:	n/a	n/a
30	CTCF	chr8:69766440-69766590	HL-60	blood:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
31	SIN3AK20	chr8:69766308-69766894	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr8:69766520-69766670	HCT-116	colon:	n/a	n/a
33	EP300	chr8:69765250-69767159	T-47D	breast:	n/a	chr8:69765898-69765911 chr8:69765485-69765499 chr8:69765487-69765501 chr8:69767010-69767024 chr8:69765490-69765504
34	CTCF	chr8:69766440-69766590	SAEC	small airway:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
35	CTCF	chr8:69766440-69766590	BJ	skin:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
36	RAD21	chr8:69766325-69766850	IMR90	lung:	n/a	chr8:69766506-69766525
37	JUND	chr8:69766389-69767243	MCF-7	breast:	n/a	chr8:69766804-69766816 chr8:69766452-69766461
38	POLR2A	chr8:69766482-69766813	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr8:69766340-69766683	MCF10A-Er-Src	breast:	n/a	chr8:69766585-69766592
40	CTCF	chr8:69766426-69766584	GM13976	blood:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
41	CTCF	chr8:69766420-69766570	MCF-7	breast:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
42	CTCF	chr8:69766337-69766670	HUVEC	blood vessel:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
43	CTCF	chr8:69766388-69766644	MCF-7	breast:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
44	SMC3	chr8:69766346-69766699	GM12878	blood:	n/a	n/a
45	CTCF	chr8:69766308-69766619	H1-hESC	embryonic stem cell:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
46	CTCF	chr8:69766460-69766610	GM12874	blood:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
47	EP300	chr8:69765294-69767235	MCF-7	breast:	n/a	chr8:69765898-69765911 chr8:69765485-69765499 chr8:69765487-69765501 chr8:69767010-69767024 chr8:69765490-69765504
48	CTCF	chr8:69766376-69766564	A549	lung:	n/a	chr8:69766507-69766528 chr8:69766505-69766523
49	TAF1	chr8:69766423-69766755	SK-N-SH	brain:	n/a	n/a
50	SMC3	chr8:69765661-69767115	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:69766397..69768626-chr8:69981914..69983508,2	MCF-7	breast:
2	chr8:69765041..69767952-chr8:69838126..69840398,3	MCF-7	breast:
3	chr8:69766422..69767301-chr8:70023556..70024512,9	MCF-7	breast:
4	chr8:69766369..69767301-chr8:70023597..70024512,9	MCF-7	breast:
5	chr8:69766399..69767115-chr8:69991782..69992767,2	MCF-7	breast:
6	chr8:69765926..69767722-chr8:70531531..70533883,3	MCF-7	breast:
7	chr8:69765117..69767304-chr8:69979220..69980795,2	MCF-7	breast:
8	chr8:69765448..69769118-chr8:69936665..69941458,7	MCF-7	breast:
9	chr8:69765354..69768313-chr8:70403823..70406098,3	MCF-7	breast:
10	chr8:69610109..69611975-chr8:69765057..69767019,2	MCF-7	breast:
11	chr8:69765987..69767833-chr8:69983718..69985913,2	MCF-7	breast:
12	chr8:69765805..69766693-chr8:69985208..69986080,2	MCF-7	breast:
13	chr8:69766183..69766998-chr8:70468234..70468991,2	MCF-7	breast:
14	chr8:68292865..68293515-chr8:69766457..69767353,3	MCF-7	breast:
15	chr8:69765279..69767479-chr8:70175959..70178236,2	MCF-7	breast:
16	chr8:69762198..69770207-chr8:70021083..70026192,14	MCF-7	breast:
17	chr8:69766511..69767277-chr8:70023631..70024260,3	MCF-7	breast:
18	chr8:69766441..69769103-chr8:69782417..69786375,4	MCF-7	breast:
19	chr8:69766391..69767381-chr8:70023551..70024464,7	MCF-7	breast:
20	chr8:69765869..69767143-chr8:69958070..69958747,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254337	TF binding region
ENSG00000137573	Chromatin interaction
ENSG00000238808	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56350065	1.00[AFR][1000 genomes]
rs57331149	1.00[AFR][1000 genomes]
rs58281208	1.00[AFR][1000 genomes]
rs60314331	1.00[AFR][1000 genomes]
rs73683739	1.00[AFR][1000 genomes]
rs73683741	1.00[AFR][1000 genomes]
rs73683750	1.00[AFR][1000 genomes]
rs73683754	1.00[AFR][1000 genomes]
rs73683755	1.00[AFR][1000 genomes]
rs73683792	1.00[AFR][1000 genomes]
rs73683794	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465703	chr8:69641287-69814578	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv611462	chr8:69641287-69814578	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1017131	chr8:69676989-69792515	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1031642	chr8:69728620-69814849	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1033122	chr8:69728620-69843088	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1018791	chr8:69729491-69814849	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv470214	chr8:69745066-69814577	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv465704	chr8:69745066-69814578	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv611463	chr8:69745066-69814578	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69756200-69776000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:69763000-69778600	Weak transcription	Aorta	Aorta
3	chr8:69764800-69766800	Enhancers	Hela-S3	cervix
4	chr8:69764800-69767000	Enhancers	Fetal Lung	lung
5	chr8:69765000-69766600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:69765000-69766600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr8:69765000-69766800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:69765000-69767400	Enhancers	Osteobl	bone
9	chr8:69765400-69766800	Enhancers	Liver	Liver
10	chr8:69765400-69767000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:69765400-69767000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:69765600-69766600	Enhancers	HMEC	breast
13	chr8:69765600-69767000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:69765800-69766800	Enhancers	Brain Hippocampus Middle	brain
15	chr8:69765800-69767000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:69765800-69767000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:69765800-69767000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:69765800-69767000	Enhancers	Brain Anterior Caudate	brain
19	chr8:69765800-69767000	Enhancers	NHDF-Ad	bronchial
20	chr8:69766000-69766800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:69766000-69766800	Enhancers	Brain Cingulate Gyrus	brain
22	chr8:69766000-69767000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:69766200-69766600	Weak transcription	HSMM	muscle
24	chr8:69766200-69766800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:69766200-69767000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr8:69766400-69766800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:69766400-69766800	Enhancers	NH-A	brain
28	chr8:69766400-69767000	Enhancers	Stomach Mucosa	stomach

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