Variant report

Variant	esv1828349
Chromosome Location	chr8:58175232-58198324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:915)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr8:58189904-58189917	GM12878	blood:	n/a	n/a
2	E2F4	chr8:58180057-58180448	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXA1	chr8:58185585-58186018	HepG2	liver:	n/a	n/a
4	FOXA1	chr8:58185011-58185376	HepG2	liver:	n/a	n/a
5	FOXA1	chr8:58185554-58185908	HepG2	liver:	n/a	n/a
6	FOXA1	chr8:58185005-58185328	HepG2	liver:	n/a	n/a
7	FOXA1	chr8:58184959-58185448	HepG2	liver:	n/a	n/a
8	FOXA1	chr8:58185630-58185995	HepG2	liver:	n/a	n/a
9	FOXA1	chr8:58185559-58185945	HepG2	liver:	n/a	n/a
10	FOXA1	chr8:58184986-58185275	HepG2	liver:	n/a	n/a
11	FOXA2	chr8:58185598-58185963	HepG2	liver:	n/a	n/a
12	FOXA2	chr8:58185083-58185214	HepG2	liver:	n/a	n/a
13	GATA3	chr8:58178195-58178384	SH-SY5Y	brain:	n/a	n/a
14	HNF4A	chr8:58185594-58185923	HepG2	liver:	n/a	chr8:58185776-58185791
15	HNF4A	chr8:58185651-58185977	HepG2	liver:	n/a	chr8:58185776-58185791
16	JUND	chr8:58188570-58188850	HepG2	liver:	n/a	chr8:58188723-58188732
17	MAFF	chr8:58178089-58178110	K562	blood:	n/a	n/a
18	MAFK	chr8:58185918-58186121	HepG2	liver:	n/a	chr8:58185987-58186003
19	MAFK	chr8:58185844-58186135	HepG2	liver:	n/a	chr8:58185987-58186003
20	MXI1	chr8:58178391-58178470	GM12878	blood:	n/a	n/a
21	POLR2A	chr8:58190837-58190839	MCF-7	breast:	n/a	n/a
22	POLR2A	chr8:58195607-58195807	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr8:58191039-58191090	MCF-7	breast:	n/a	n/a
24	POLR2A	chr8:58185280-58185372	Gliobla	brain:	n/a	n/a
25	POLR2A	chr8:58185419-58185465	Gliobla	brain:	n/a	n/a
26	POLR2A	chr8:58181694-58181852	MCF10A-Er-Src	breast:	n/a	n/a
27	RXRA	chr8:58185647-58185890	HepG2	liver:	n/a	n/a
28	SP1	chr8:58185549-58185935	HepG2	liver:	n/a	n/a
29	SPI1	chr8:58182021-58182222	GM12878	blood:	n/a	n/a
30	SPI1	chr8:58182022-58182209	K562	blood:	n/a	n/a
31	SPI1	chr8:58182022-58182219	GM12891	blood:	n/a	n/a
32	STAT3	chr8:58179999-58180198	MCF10A-Er-Src	breast:	n/a	n/a
33	YY1	chr8:58185690-58185963	HepG2	liver:	n/a	n/a
34	YY1	chr8:58185652-58185912	HepG2	liver:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:58191386-58191436	HCT-116	colon:	n/a
2	chr8:58191910-58191960	NT2-D1	testis:	n/a
3	chr8:58192502-58192552	AoSMC	blood vessel:	n/a
4	chr8:58177661-58177711	HepG2	liver:	n/a
5	chr8:58191910-58191960	BJ	skin:	n/a
6	chr8:58177661-58177711	GM12891	blood:	n/a
7	chr8:58192065-58192115	HNPCEpiC	eye:	n/a
8	chr8:58191386-58191436	HIPEpiC	eye:	n/a
9	chr8:58191969-58192019	NB4	blood:	n/a
10	chr8:58191910-58191960	GM06990	blood:	n/a
11	chr8:58191956-58192006	HepG2	liver:	n/a
12	chr8:58193284-58193334	MCF10A-Er-Src	breast:	n/a
13	chr8:58191952-58192002	MCF10A-Er-Src	breast:	n/a
14	chr8:58191956-58192006	AG09319	gingival:	n/a
15	chr8:58188909-58188959	AoSMC	blood vessel:	n/a
16	chr8:58191952-58192002	GM06990	blood:	n/a
17	chr8:58191386-58191436	HL-60	blood:	n/a
18	chr8:58191910-58191960	NHDF-neo	bronchial:	n/a
19	chr8:58191956-58192006	HL-60	blood:	n/a
20	chr8:58192883-58192933	GM12878	blood:	n/a
21	chr8:58192502-58192552	PANC-1	pancreas:	n/a
22	chr8:58193284-58193334	HEEpiC	esophagus:	n/a
23	chr8:58192065-58192115	HRCEpiC	kidney:	n/a
24	chr8:58193284-58193334	NHDF-neo	bronchial:	n/a
25	chr8:58191610-58191660	MCF-7	breast:	n/a
26	chr8:58192502-58192552	NHDF-neo	bronchial:	n/a
27	chr8:58191969-58192019	HIPEpiC	eye:	n/a
28	chr8:58193284-58193334	GM06990	blood:	n/a
29	chr8:58191610-58191660	ECC-1	luminal epithelium:	n/a
30	chr8:58193284-58193334	AG04450	lung:	fetal
31	chr8:58191969-58192019	GM19239	blood:	n/a
32	chr8:58191969-58192019	SKMC	muscle:	n/a
33	chr8:58192065-58192115	K562	blood:	n/a
34	chr8:58177661-58177711	AoSMC	blood vessel:	n/a
35	chr8:58191956-58192006	NHBE	bronchial:	n/a
36	chr8:58177661-58177711	PrEC	prostate:	n/a
37	chr8:58177661-58177711	RPTEC	kidney:	n/a
38	chr8:58191910-58191960	BE2_C	brain:	n/a
39	chr8:58191610-58191660	Caco-2	colon:	n/a
40	chr8:58190903-58190953	HUVEC	blood vessel:	n/a
41	chr8:58188909-58188959	GM12891	blood:	n/a
42	chr8:58188909-58188959	HIPEpiC	eye:	n/a
43	chr8:58192021-58192071	AG04450	lung:	fetal
44	chr8:58191956-58192006	HCF	heart:	n/a
45	chr8:58192883-58192933	CMK	blood:	n/a
46	chr8:58192021-58192071	AG10803	skin:	n/a
47	chr8:58192502-58192552	HPAEpiC	pulmonary alveolar:	n/a
48	chr8:58191910-58191960	PANC-1	pancreas:	n/a
49	chr8:58191952-58192002	HIPEpiC	eye:	n/a
50	chr8:58191956-58192006	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58190918..58193705-chr8:58197368..58198890,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM110B-7	chr8:58174093-58175676	ENSG00000253614
2	lnc-FAM110B-7	chr8:58177900-58179172	ENSG00000253614
3	lnc-FAM110B-7	chr8:58177900-58179170	NR_038874
4	lnc-FAM110B-7	chr8:58174093-58175676	NR_038874

No data

Variant related genes	Relation type
RNU6-596P	TF binding region
LINC00588	TF binding region
RNU6-596P	CpG island
LINC00588	CpG island
ENSG00000215117	chromatin interactions

Extended variants
information (count: 382 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67677367	chr8:58175264-58175265	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146242614	chr8:58175274-58175275	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs542033418	chr8:58175281-58175282	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs549381294	chr8:58175283-58175284	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs534498679	chr8:58175294-58175295	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs529920323	chr8:58175339-58175340	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs149635950	chr8:58175343-58175344	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs374157158	chr8:58175344-58175345	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs33999185	chr8:58175347-58175348	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs549194267	chr8:58175354-58175355	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs144248193	chr8:58175374-58175375	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs201151077	chr8:58175458-58175459	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs201470302	chr8:58175463-58175464	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs372680419	chr8:58175464-58175465	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs190985589	chr8:58175546-58175547	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs558223755	chr8:58175589-58175590	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs56740825	chr8:58175617-58175618	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537696960	chr8:58175619-58175620	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs536248579	chr8:58175659-58175660	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs533588606	chr8:58177939-58177940	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs554088972	chr8:58177963-58177964	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs577255190	chr8:58177988-58177989	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs67895971	chr8:58177994-58177995	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146969420	chr8:58178042-58178043	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs186673812	chr8:58178094-58178095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs147713571	chr8:58178132-58178133	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs56350499	chr8:58178139-58178140	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561239152	chr8:58178140-58178141	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs552586548	chr8:58178207-58178208	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs530088502	chr8:58178238-58178239	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs56255635	chr8:58178264-58178265	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191337338	chr8:58178275-58178276	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs572136774	chr8:58178278-58178279	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs532625711	chr8:58178280-58178281	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs552456135	chr8:58178306-58178307	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs539159724	chr8:58178311-58178312	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs569408179	chr8:58178313-58178314	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs531829792	chr8:58178318-58178319	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs548253125	chr8:58178389-58178390	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs568093362	chr8:58178447-58178448	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs533765820	chr8:58178464-58178465	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs149221824	chr8:58178477-58178478	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs375800941	chr8:58178478-58178479	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs200305601	chr8:58178490-58178491	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs200782114	chr8:58178494-58178495	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs55787104	chr8:58178519-58178520	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185046718	chr8:58178520-58178521	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs112807649	chr8:58178570-58178571	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs149196170	chr8:58178577-58178578	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs556518404	chr8:58178621-58178622	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58185200-58185400	Enhancers	HepG2	liver
2	chr8:58185400-58185800	Enhancers	Pancreas	Pancrea
3	chr8:58185400-58185800	Flanking Active TSS	HepG2	liver
4	chr8:58185600-58187200	Enhancers	Fetal Lung	lung
5	chr8:58185800-58186600	Enhancers	HepG2	liver
6	chr8:58187600-58187800	Enhancers	Aorta	Aorta
7	chr8:58190800-58193000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:58191000-58192400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr8:58191200-58191400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:58191400-58191600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:58191400-58193000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:58191600-58193400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:58192200-58192400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr8:58192400-58192800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
15	chr8:58192400-58193600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:58192600-58192800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:58192600-58192800	Bivalent/Poised TSS	Fetal Brain Female	brain
18	chr8:58192600-58192800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
19	chr8:58192600-58193200	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr8:58192800-58193000	Active TSS	Fetal Brain Female	brain
21	chr8:58192800-58193000	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr8:58193000-58193400	Active TSS	Fetal Muscle Trunk	muscle
23	chr8:58193200-58193400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr8:58193400-58193800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:58196800-58197200	Enhancers	Fetal Brain Female	brain
26	chr8:58197000-58197200	Enhancers	Fetal Lung	lung
27	chr8:58198200-58199600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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