Variant report

Variant	esv18617
Chromosome Location	chr8:1196689-1198886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr8:1197352-1197554	GM12878	blood:	n/a	n/a
2	CTCF	chr8:1197077-1197111	LNCaP	prostate:	n/a	n/a
3	CTCF	chr8:1197078-1197088	GM19239	blood:	n/a	n/a
4	MYC	chr8:1197004-1197047	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr8:1197055-1197188	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr8:1197038-1197106	MCF-7	breast:	n/a	n/a
7	POLR2A	chr8:1196859-1197069	MCF-7	breast:	n/a	n/a
8	POLR2A	chr8:1196853-1197288	MCF-7	breast:	n/a	n/a
9	POLR2A	chr8:1197053-1197073	A549	lung:	n/a	n/a
10	POLR2A	chr8:1197053-1197057	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr8:1196796-1196829	MCF-7	breast:	n/a	n/a
12	POLR2A	chr8:1197016-1197138	Gliobla	brain:	n/a	n/a
13	SETDB1	chr8:1196951-1197403	U2OS	brain:	n/a	n/a
14	SIX5	chr8:1198183-1198460	K562	blood:	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	chr8:1197488-1197538	ProgFib	skin:	n/a
2	chr8:1197144-1197194	GM12878	blood:	n/a
3	chr8:1197144-1197194	NHDF-neo	bronchial:	n/a
4	chr8:1197144-1197194	HIPEpiC	eye:	n/a
5	chr8:1197488-1197538	GM12892	blood:	n/a
6	chr8:1197488-1197538	PrEC	prostate:	n/a
7	chr8:1197231-1197281	HMEC	breast:	n/a
8	chr8:1198327-1198377	HCM	heart:	n/a
9	chr8:1197231-1197281	HEK293	kidney:	embryo
10	chr8:1198327-1198377	K562	blood:	n/a
11	chr8:1198327-1198377	SK-N-SH_RA	brain:	n/a
12	chr8:1197231-1197281	A549	lung:	n/a
13	chr8:1197488-1197538	Hepatocyte	liver:	n/a
14	chr8:1198327-1198377	MCF-7	breast:	n/a
15	chr8:1197231-1197281	HRCEpiC	kidney:	n/a
16	chr8:1197488-1197538	HCPEpiC	choroid plexus:	n/a
17	chr8:1197144-1197194	HCPEpiC	choroid plexus:	n/a
18	chr8:1198181-1198231	HCPEpiC	choroid plexus:	n/a
19	chr8:1198327-1198377	BE2_C	brain:	n/a
20	chr8:1197231-1197281	LNCaP	prostate:	n/a
21	chr8:1197144-1197194	AoSMC	blood vessel:	n/a
22	chr8:1198181-1198231	ProgFib	skin:	n/a
23	chr8:1197488-1197538	SK-N-SH	brain:	n/a
24	chr8:1197231-1197281	AoSMC	blood vessel:	n/a
25	chr8:1198327-1198377	MCF10A-Er-Src	breast:	n/a
26	chr8:1198327-1198377	NB4	blood:	n/a
27	chr8:1197144-1197194	T-47D	breast:	n/a
28	chr8:1197144-1197194	PANC-1	pancreas:	n/a
29	chr8:1198327-1198377	HCF	heart:	n/a
30	chr8:1197231-1197281	SK-N-SH	brain:	n/a
31	chr8:1197231-1197281	PFSK-1	brain:	n/a
32	chr8:1197231-1197281	HCT-116	colon:	n/a
33	chr8:1197488-1197538	SKMC	muscle:	n/a
34	chr8:1198327-1198377	AG09309	skin:	n/a
35	chr8:1197231-1197281	SKMC	muscle:	n/a
36	chr8:1197144-1197194	CMK	blood:	n/a
37	chr8:1197488-1197538	IMR90	lung:	fetal
38	chr8:1197231-1197281	GM12891	blood:	n/a
39	chr8:1197488-1197538	PFSK-1	brain:	n/a
40	chr8:1197488-1197538	T-47D	breast:	n/a
41	chr8:1198327-1198377	Hepatocyte	liver:	n/a
42	chr8:1198327-1198377	SK-N-SH	brain:	n/a
43	chr8:1197488-1197538	NHBE	bronchial:	n/a
44	chr8:1198327-1198377	AG04450	lung:	fetal
45	chr8:1197488-1197538	PANC-1	pancreas:	n/a
46	chr8:1198327-1198377	SAEC	small airway:	n/a
47	chr8:1197144-1197194	GM12892	blood:	n/a
48	chr8:1197231-1197281	K562	blood:	n/a
49	chr8:1197488-1197538	SK-N-MC	brain:	n/a
50	chr8:1197231-1197281	AG04449	skin:	fetal

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLGAP2-7	chr8:1197062-1197215	l_3529_chr8:1197061-1199999_testes

No data

Variant related genes	Relation type
ENSG00000254269	TF binding region
ENSG00000254160	TF binding region
ENSG00000254269	CpG island
ENSG00000254160	CpG island

Extended variants
information (count: 324 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144671094	chr8:1196704-1196705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551872756	chr8:1196718-1196719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79279744	chr8:1196729-1196730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534346449	chr8:1196731-1196732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371051755	chr8:1196737-1196738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148965691	chr8:1196759-1196760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143644333	chr8:1196778-1196779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557582791	chr8:1196793-1196794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34277973	chr8:1196799-1196800	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs13281151	chr8:1196822-1196823	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs375203551	chr8:1196825-1196826	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs35523582	chr8:1196836-1196837	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573351801	chr8:1196841-1196842	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542250996	chr8:1196843-1196844	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141261457	chr8:1196851-1196852	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140310657	chr8:1196856-1196857	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs34887829	chr8:1196870-1196871	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs113141874	chr8:1196885-1196886	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs575548388	chr8:1196886-1196887	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs111544149	chr8:1196889-1196890	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs563210767	chr8:1196890-1196891	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs113550025	chr8:1196892-1196893	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs112362722	chr8:1196897-1196898	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs76518886	chr8:1196899-1196900	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs28521731	chr8:1196900-1196901	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551933180	chr8:1196907-1196908	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs559070481	chr8:1196910-1196911	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs66657547	chr8:1196923-1196924	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs66517540	chr8:1196924-1196925	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs145836293	chr8:1196934-1196935	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs36130662	chr8:1196938-1196939	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs113315334	chr8:1196941-1196942	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs188211089	chr8:1196947-1196948	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs36152375	chr8:1196948-1196949	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs62487837	chr8:1196949-1196950	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs58095269	chr8:1196954-1196955	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs62487839	chr8:1196966-1196967	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs147920469	chr8:1196967-1196968	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs114742029	chr8:1196968-1196969	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs36164193	chr8:1196972-1196973	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs77704188	chr8:1196974-1196975	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs62487840	chr8:1196987-1196988	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs62487841	chr8:1196990-1196991	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs553595873	chr8:1196994-1196995	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs112301628	chr8:1196997-1196998	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs112618265	chr8:1197000-1197001	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs58310675	chr8:1197015-1197016	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs374586807	chr8:1197017-1197018	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs542821057	chr8:1197022-1197023	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs535581072	chr8:1197029-1197030	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1195200-1197200	Enhancers	Fetal Brain Male	brain
2	chr8:1196800-1197200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:1196800-1197200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
4	chr8:1196800-1197400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:1196800-1197400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:1196800-1197400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr8:1197000-1197200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:1197000-1197200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
9	chr8:1197000-1197200	ZNF genes & repeats	Gastric	stomach
10	chr8:1197000-1197200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
11	chr8:1197000-1197400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
12	chr8:1197000-1197400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:1197000-1197400	ZNF genes & repeats	Pancreas	Pancrea
14	chr8:1197200-1198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:1197200-1199200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:1197200-1201800	Weak transcription	Gastric	stomach
17	chr8:1197400-1201600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:1197400-1202000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:1197400-1202000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:1198600-1199200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links