Variant report

Variant	rs56366347
Chromosome Location	chr8:86090251-86090252
allele	C/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	GABPA	chr8:86089747-86090340	MCF-7	breast:	n/a	n/a
2	CTBP2	chr8:86089276-86090700	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:86088981-86091052	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr8:86090027-86090294	MCF-7	breast:	n/a	n/a
5	REST	chr8:86088960-86090525	H1-neurons	neurons:	n/a	n/a
6	MAX	chr8:86089750-86090453	SK-N-SH	brain:	n/a	chr8:86090163-86090172
7	CTCF	chr8:86090052-86090286	GM12892	blood:	n/a	n/a
8	POLR2A	chr8:86089060-86090384	GM15510	blood:	n/a	n/a
9	HNF4G	chr8:86089711-86090307	HepG2	liver:	n/a	chr8:86089914-86089929 chr8:86089914-86089929
10	YY1	chr8:86089896-86090260	K562	blood:	n/a	chr8:86090019-86090038 chr8:86090073-86090092
11	HEY1	chr8:86088962-86090357	HepG2	liver:	n/a	chr8:86089563-86089578
12	MXI1	chr8:86088621-86091242	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr8:86088793-86090419	K562	blood:	n/a	n/a
14	MTA3	chr8:86088970-86091300	GM12878	blood:	n/a	n/a
15	ZEB1	chr8:86089894-86090321	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:86089740-86090318	GM12891	blood:	n/a	n/a
17	HA-E2F1	chr8:86088931-86090472	MCF-7	breast:	n/a	chr8:86089551-86089560 chr8:86089596-86089605 chr8:86089551-86089563 chr8:86089899-86089908 chr8:86089600-86089610
18	POLR2A	chr8:86088898-86091652	HepG2	liver:	n/a	n/a
19	POLR2A	chr8:86089696-86090749	GM12892	blood:	n/a	n/a
20	CREB1	chr8:86089709-86090299	A549	lung:	n/a	n/a
21	E2F6	chr8:86089172-86090334	Hela-S3	cervix:	n/a	chr8:86089551-86089560 chr8:86089596-86089605 chr8:86089551-86089563 chr8:86089899-86089908 chr8:86089600-86089610
22	USF1	chr8:86089833-86090295	ECC-1	luminal epithelium:	n/a	chr8:86090023-86090034 chr8:86089902-86089918
23	MAX	chr8:86089705-86090526	MCF-7	breast:	n/a	chr8:86090163-86090172
24	E2F6	chr8:86088793-86090366	K562	blood:	n/a	chr8:86089551-86089560 chr8:86089600-86089610 chr8:86089596-86089605 chr8:86089551-86089563 chr8:86089899-86089908
25	POLR2A	chr8:86089033-86090553	GM12878	blood:	n/a	n/a
26	CTCF	chr8:86090082-86090263	NHEK	skin:	n/a	n/a
27	POLR2A	chr8:86089050-86090297	NB4	blood:	n/a	n/a
28	CTCF	chr8:86090140-86090290	GM12868	blood:	n/a	n/a
29	CTCF	chr8:86090056-86090294	GM19240	blood:	n/a	n/a
30	POLR2A	chr8:86089654-86090733	GM12891	blood:	n/a	n/a
31	POLR2A	chr8:86089663-86090370	GM12878	blood:	n/a	n/a
32	MYC	chr8:86089931-86090285	MCF-7	breast:	n/a	chr8:86090163-86090172
33	RELA	chr8:86088967-86090277	GM19193	blood:	n/a	n/a
34	POLR2A	chr8:86088804-86091163	GM12878	blood:	n/a	n/a
35	POLR2A	chr8:86088769-86090358	K562	blood:	n/a	n/a
36	MXI1	chr8:86089120-86090589	Hela-S3	cervix:	n/a	n/a
37	MYBL2	chr8:86089792-86090253	HepG2	liver:	n/a	n/a
38	CTCF	chr8:86090101-86090264	LNCaP	prostate:	n/a	n/a
39	MAX	chr8:86089022-86090451	ECC-1	luminal epithelium:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
40	GTF2F1	chr8:86089730-86090366	H1-hESC	embryonic stem cell:	n/a	n/a
41	JUND	chr8:86090015-86090272	H1-hESC	embryonic stem cell:	n/a	n/a
42	RELA	chr8:86088906-86090346	GM19099	blood:	n/a	n/a
43	GATA3	chr8:86089954-86090283	T-47D	breast:	n/a	n/a
44	EGR1	chr8:86088971-86090385	HCT-116	colon:	n/a	chr8:86089909-86089918 chr8:86089550-86089560 chr8:86090056-86090069 chr8:86089451-86089464 chr8:86089906-86089919 chr8:86089451-86089464 chr8:86089453-86089463 chr8:86089589-86089599 chr8:86089346-86089355 chr8:86089450-86089465
45	CTCF	chr8:86089969-86090342	IMR90	lung:	n/a	n/a
46	CTCF	chr8:86090120-86090270	NHDF-neo	bronchial:	n/a	n/a
47	POLR2A	chr8:86089741-86090301	U87	brain:	n/a	n/a
48	USF1	chr8:86089758-86090287	ECC-1	luminal epithelium:	n/a	chr8:86090023-86090034 chr8:86089902-86089918
49	TBP	chr8:86088936-86090326	K562	blood:	n/a	n/a
50	CTCF	chr8:86090120-86090270	GM12864	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:86090224-86090274	GM12878	blood:	n/a
2	chr8:86090224-86090274	MCF10A-Er-Src	breast:	n/a
3	chr8:86090224-86090274	BJ	skin:	n/a
4	chr8:86090224-86090274	PANC-1	pancreas:	n/a
5	chr8:86090224-86090274	Hepatocyte	liver:	n/a
6	chr8:86090224-86090274	SK-N-SH	brain:	n/a
7	chr8:86090224-86090274	NHBE	bronchial:	n/a
8	chr8:86090224-86090274	ovcar-3	ovarian:	n/a
9	chr8:86090224-86090274	Hela-S3	cervix:	n/a
10	chr8:86090224-86090274	HepG2	liver:	n/a
11	chr8:86090224-86090274	SKMC	muscle:	n/a
12	chr8:86090224-86090274	PrEC	prostate:	n/a
13	chr8:86090224-86090274	NH-A	brain:	n/a
14	chr8:86090224-86090274	ECC-1	luminal epithelium:	n/a
15	chr8:86090224-86090274	HCM	heart:	n/a
16	chr8:86090224-86090274	GM12891	blood:	n/a
17	chr8:86090224-86090274	HPAEpiC	pulmonary alveolar:	n/a
18	chr8:86090224-86090274	HRCEpiC	kidney:	n/a
19	chr8:86090224-86090274	AG09309	skin:	n/a
20	chr8:86090224-86090274	HNPCEpiC	eye:	n/a
21	chr8:86090224-86090274	NHDF-neo	bronchial:	n/a
22	chr8:86090224-86090274	GM19239	blood:	n/a
23	chr8:86090224-86090274	PFSK-1	brain:	n/a
24	chr8:86090224-86090274	HCF	heart:	n/a
25	chr8:86090224-86090274	AG04450	lung:	fetal
26	chr8:86090224-86090274	HEK293	kidney:	embryo
27	chr8:86090224-86090274	GM06990	blood:	n/a
28	chr8:86090224-86090274	HRE	kidney:	n/a
29	chr8:86090224-86090274	T-47D	breast:	n/a
30	chr8:86090224-86090274	HEEpiC	esophagus:	n/a
31	chr8:86090224-86090274	HAEpiC	amniotic membrane:	n/a
32	chr8:86090224-86090274	HMEC	breast:	n/a
33	chr8:86090224-86090274	Jurkat	blood:	n/a
34	chr8:86090224-86090274	GM12892	blood:	n/a
35	chr8:86090224-86090274	AoSMC	blood vessel:	n/a
36	chr8:86090224-86090274	Caco-2	colon:	n/a
37	chr8:86090224-86090274	LNCaP	prostate:	n/a
38	chr8:86090224-86090274	SK-N-MC	brain:	n/a
39	chr8:86090224-86090274	HUVEC	blood vessel:	n/a
40	chr8:86090224-86090274	IMR90	lung:	fetal
41	chr8:86090224-86090274	ProgFib	skin:	n/a
42	chr8:86090224-86090274	U87	brain:	n/a
43	chr8:86090224-86090274	SK-N-SH_RA	brain:	n/a
44	chr8:86090224-86090274	SAEC	small airway:	n/a
45	chr8:86090224-86090274	AG09319	gingival:	n/a
46	chr8:86090224-86090274	HCPEpiC	choroid plexus:	n/a
47	chr8:86090224-86090274	A549	lung:	n/a
48	chr8:86090224-86090274	NB4	blood:	n/a
49	chr8:86090224-86090274	AG04449	skin:	fetal
50	chr8:86090224-86090274	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:149899426..149900366-chr8:86089491..86090377,2	HCT-116	colon:
2	chr8:86088170..86090782-chr8:86116952..86119231,3	MCF-7	breast:
3	chr8:86088356..86092364-chr8:86131123..86134666,8	MCF-7	breast:
4	chr8:86088150..86092119-chr8:86130217..86134794,5	K562	blood:
5	chr8:86016436..86019868-chr8:86087554..86092567,7	K562	blood:
6	chr8:86087523..86090287-chr8:86131220..86133061,4	K562	blood:
7	chr8:86088862..86093405-chr8:86093868..86100908,10	K562	blood:
8	chr8:86089162..86091404-chr8:86126321..86127950,2	MCF-7	breast:
9	chr8:86089844..86092252-chr8:86098327..86100668,2	MCF-7	breast:
10	chr8:86088302..86092423-chr8:86099880..86105553,7	MCF-7	breast:
11	chr8:86089298..86091951-chr8:86118252..86120782,3	MCF-7	breast:
12	chr8:86088315..86091850-chr8:86128947..86134706,9	MCF-7	breast:
13	chr8:82753384..82754969-chr8:86089257..86091516,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf59-1	chr8:86090195-86090385	ENSG00000254208.1

Variant related genes	Relation type
ENSG00000260493	TF binding region
ENSG00000260493	CpG island
ENSG00000104497	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000185015	Chromatin interaction
ENSG00000133740	Chromatin interaction
ENSG00000133739	Chromatin interaction
ENSG00000176731	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16913589	0.83[AMR][1000 genomes]
rs16913598	0.83[AMR][1000 genomes]
rs17813585	0.88[EUR][1000 genomes]
rs4150863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150895	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4150896	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4150921	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55701281	0.83[EUR][1000 genomes]
rs56082812	0.88[EUR][1000 genomes]
rs56174027	0.83[EUR][1000 genomes]
rs57271883	0.88[EUR][1000 genomes]
rs59170491	0.88[EUR][1000 genomes]
rs60789842	0.88[EUR][1000 genomes]
rs6987314	0.88[EUR][1000 genomes]
rs73688679	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688688	0.88[EUR][1000 genomes]
rs73688691	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1799571	chr8:86064130-86105803	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a
4	esv3401841	chr8:86088225-86091073	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86088600-86090400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr8:86088600-86090600	Active TSS	Fetal Brain Female	brain
3	chr8:86088600-86090800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:86088600-86090800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:86088600-86090800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:86088600-86091000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:86088600-86091000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:86088600-86091600	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:86088800-86090400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:86088800-86090400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:86088800-86090400	Active TSS	Aorta	Aorta
12	chr8:86088800-86090400	Active TSS	Brain Anterior Caudate	brain
13	chr8:86088800-86090400	Active TSS	Brain Cingulate Gyrus	brain
14	chr8:86088800-86090400	Active TSS	NHDF-Ad	bronchial
15	chr8:86088800-86090600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:86088800-86090600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:86088800-86090600	Active TSS	Brain Substantia Nigra	brain
18	chr8:86088800-86090600	Active TSS	Colonic Mucosa	Colon
19	chr8:86088800-86090600	Active TSS	Fetal Brain Male	brain
20	chr8:86088800-86090600	Active TSS	Fetal Intestine Large	intestine
21	chr8:86088800-86090600	Active TSS	Psoas Muscle	Psoas
22	chr8:86088800-86090600	Active TSS	Right Atrium	heart
23	chr8:86088800-86090800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr8:86088800-86090800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr8:86088800-86090800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:86088800-86090800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:86088800-86090800	Active TSS	Brain Germinal Matrix	brain
28	chr8:86088800-86090800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr8:86088800-86090800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:86088800-86090800	Active TSS	Fetal Muscle Trunk	muscle
31	chr8:86088800-86090800	Active TSS	Fetal Stomach	stomach
32	chr8:86088800-86090800	Active TSS	HSMMtube	muscle
33	chr8:86088800-86091000	Active TSS	H1 Cell Line	embryonic stem cell
34	chr8:86089000-86090400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:86089000-86090400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:86089000-86090400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:86089000-86090400	Active TSS	Brain Angular Gyrus	brain
38	chr8:86089000-86090400	Active TSS	Duodenum Mucosa	Duodenum
39	chr8:86089000-86090400	Active TSS	Esophagus	oesophagus
40	chr8:86089000-86090400	Active TSS	Left Ventricle	heart
41	chr8:86089000-86090400	Active TSS	Lung	lung
42	chr8:86089000-86090400	Active TSS	Placenta Amnion	Placenta Amnion
43	chr8:86089000-86090400	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr8:86089000-86090400	Active TSS	NHEK	skin
45	chr8:86089000-86090600	Active TSS	Ovary	ovary
46	chr8:86089000-86090600	Active TSS	Pancreas	Pancrea
47	chr8:86089000-86090600	Active TSS	Right Ventricle	heart
48	chr8:86089000-86090600	Active TSS	Thymus	Thymus
49	chr8:86089000-86090600	Active TSS	A549	lung
50	chr8:86089000-86090800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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