Variant report

Variant	nsv397163
Chromosome Location	chr8:107221704-107230062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:305)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:107227500-107227650	MCF-7	breast:	n/a	n/a
2	CTCF	chr8:107226640-107226790	GM12873	blood:	n/a	n/a
3	CTCF	chr8:107227517-107227608	Fibrobl	skin:	n/a	n/a
4	CTCF	chr8:107227566-107227571	MCF-7	breast:	n/a	n/a
5	CTCF	chr8:107227514-107227617	HepG2	liver:	n/a	n/a
6	CTCF	chr8:107227519-107227619	MCF-7	breast:	n/a	n/a
7	CTCF	chr8:107227540-107227690	MCF-7	breast:	n/a	n/a
8	CTCF	chr8:107227460-107227610	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr8:107227500-107227650	HCM	heart:	n/a	n/a
10	CTCF	chr8:107227562-107227598	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr8:107227500-107227650	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr8:107227532-107227599	LNCaP	prostate:	n/a	n/a
13	CTCF	chr8:107227480-107227630	HAc	cerebellar:	n/a	n/a
14	CTCF	chr8:107227542-107227612	K562	blood:	n/a	n/a
15	CTCF	chr8:107227460-107227610	HepG2	liver:	n/a	n/a
16	CTCF	chr8:107227539-107227600	Kidney_OC	kidney:	n/a	n/a
17	E2F6	chr8:107227686-107227815	K562	blood:	n/a	n/a
18	FOS	chr8:107220893-107221722	HUVEC	blood vessel:	n/a	chr8:107221119-107221130 chr8:107221235-107221244
19	POLR2A	chr8:107229671-107229779	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr8:107228060-107228163	MCF-7	breast:	n/a	n/a
21	POLR2A	chr8:107229652-107229660	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr8:107224277-107224318	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:107227844-107227852	MCF-7	breast:	n/a	n/a
24	RAD21	chr8:107227500-107227654	SK-N-SH_RA	brain:	n/a	n/a
25	RAD21	chr8:107227472-107227644	H1-hESC	embryonic stem cell:	n/a	n/a
26	SETDB1	chr8:107220889-107221739	U2OS	brain:	n/a	n/a
27	STAT3	chr8:107225918-107226064	MCF10A-Er-Src	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:107228565-107228615	SK-N-SH	brain:	n/a
2	chr8:107227990-107228040	HCM	heart:	n/a
3	chr8:107227878-107227928	AG10803	skin:	n/a
4	chr8:107227878-107227928	HCT-116	colon:	n/a
5	chr8:107227990-107228040	BJ	skin:	n/a
6	chr8:107228203-107228253	H1-hESC	embryonic stem cell:	embryo
7	chr8:107228565-107228615	LNCaP	prostate:	n/a
8	chr8:107227990-107228040	PANC-1	pancreas:	n/a
9	chr8:107228565-107228615	PFSK-1	brain:	n/a
10	chr8:107227990-107228040	HL-60	blood:	n/a
11	chr8:107228203-107228253	AoSMC	blood vessel:	n/a
12	chr8:107228203-107228253	GM12878	blood:	n/a
13	chr8:107228006-107228056	HMEC	breast:	n/a
14	chr8:107227990-107228040	HepG2	liver:	n/a
15	chr8:107228006-107228056	AG04450	lung:	fetal
16	chr8:107227990-107228040	SK-N-SH_RA	brain:	n/a
17	chr8:107228006-107228056	NT2-D1	testis:	n/a
18	chr8:107228006-107228056	HAEpiC	amniotic membrane:	n/a
19	chr8:107228006-107228056	HIPEpiC	eye:	n/a
20	chr8:107228565-107228615	RPTEC	kidney:	n/a
21	chr8:107227990-107228040	GM06990	blood:	n/a
22	chr8:107228565-107228615	CMK	blood:	n/a
23	chr8:107228006-107228056	ECC-1	luminal epithelium:	n/a
24	chr8:107227878-107227928	HepG2	liver:	n/a
25	chr8:107227990-107228040	BE2_C	brain:	n/a
26	chr8:107228006-107228056	HUVEC	blood vessel:	n/a
27	chr8:107227878-107227928	HL-60	blood:	n/a
28	chr8:107227990-107228040	HAEpiC	amniotic membrane:	n/a
29	chr8:107228006-107228056	GM12891	blood:	n/a
30	chr8:107228006-107228056	HepG2	liver:	n/a
31	chr8:107228565-107228615	HepG2	liver:	n/a
32	chr8:107227990-107228040	T-47D	breast:	n/a
33	chr8:107228203-107228253	AG04449	skin:	fetal
34	chr8:107227878-107227928	SK-N-SH	brain:	n/a
35	chr8:107228006-107228056	GM12878	blood:	n/a
36	chr8:107228203-107228253	PANC-1	pancreas:	n/a
37	chr8:107228006-107228056	NHBE	bronchial:	n/a
38	chr8:107228006-107228056	A549	lung:	n/a
39	chr8:107227878-107227928	ovcar-3	ovarian:	n/a
40	chr8:107228006-107228056	HCPEpiC	choroid plexus:	n/a
41	chr8:107228565-107228615	U87	brain:	n/a
42	chr8:107227878-107227928	SK-N-MC	brain:	n/a
43	chr8:107228006-107228056	HNPCEpiC	eye:	n/a
44	chr8:107227990-107228040	HPAEpiC	pulmonary alveolar:	n/a
45	chr8:107227878-107227928	LNCaP	prostate:	n/a
46	chr8:107228565-107228615	HUVEC	blood vessel:	n/a
47	chr8:107227878-107227928	HEK293	kidney:	embryo
48	chr8:107228565-107228615	ProgFib	skin:	n/a
49	chr8:107228565-107228615	AG09309	skin:	n/a
50	chr8:107228203-107228253	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107221506..107223299-chr8:107416923..107419855,2	K562	blood:

No data

Variant related genes	Relation type
SLC16A14P1	TF binding region
SLC16A14P1	CpG island

Extended variants
information (count: 369 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:369 , 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	rs565654348	chr8:107221740-107221741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577494218	chr8:107221752-107221753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74530810	chr8:107221766-107221767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs59854028	chr8:107221769-107221770	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530386705	chr8:107221777-107221778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190463283	chr8:107221805-107221806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551377052	chr8:107221814-107221815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78203231	chr8:107221833-107221834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182703448	chr8:107221876-107221877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566511548	chr8:107221901-107221902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150020276	chr8:107221916-107221917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533983784	chr8:107221934-107221935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13256415	chr8:107221956-107221957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185561546	chr8:107221967-107221968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560023877	chr8:107221995-107221996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75418940	chr8:107221996-107221997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17248848	chr8:107222079-107222080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537046226	chr8:107222104-107222105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555872145	chr8:107222166-107222167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10103727	chr8:107222192-107222193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189922911	chr8:107222200-107222201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534846816	chr8:107222208-107222209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552773241	chr8:107222239-107222240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs118028908	chr8:107222285-107222286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544914290	chr8:107222288-107222289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117328263	chr8:107222312-107222313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62526101	chr8:107222313-107222314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182671105	chr8:107222321-107222322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187802380	chr8:107222326-107222327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561063651	chr8:107222411-107222412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528193871	chr8:107222427-107222428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145249621	chr8:107222472-107222473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367846102	chr8:107222496-107222497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559997663	chr8:107222525-107222526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533516330	chr8:107222539-107222540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552148310	chr8:107222555-107222556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570244759	chr8:107222581-107222582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193141108	chr8:107222582-107222583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184030872	chr8:107222587-107222588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553997636	chr8:107222620-107222621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187369694	chr8:107222645-107222646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376750425	chr8:107222666-107222667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553012695	chr8:107222670-107222671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368856431	chr8:107222679-107222680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149157541	chr8:107222701-107222702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556868591	chr8:107222750-107222751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575425718	chr8:107222772-107222773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542877007	chr8:107222811-107222812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554281618	chr8:107222901-107222902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142625633	chr8:107222917-107222918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
Gastric cancer	17908304	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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107215200-107222200	Enhancers	NHDF-Ad	bronchial
2	chr8:107215400-107222200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:107218600-107222000	Enhancers	HUVEC	blood vessel
4	chr8:107220400-107222200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:107220600-107229200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:107221200-107222000	Enhancers	Aorta	Aorta
7	chr8:107221400-107222000	Weak transcription	Fetal Lung	lung
8	chr8:107221400-107223200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:107222000-107222200	Enhancers	Fetal Lung	lung
10	chr8:107225400-107231000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:107226800-107227400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:107227400-107230400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:107227800-107228000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:107228000-107230800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:107230000-107232200	Enhancers	Osteobl	bone
16	chr8:107230000-107232400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:107230000-107232600	Enhancers	Cortex derived primary cultured neurospheres	brain

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