Variant report

Variant	esv3409898
Chromosome Location	chr8:1314245-1318543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr8:1316323-1316644	GM12878	blood:	n/a	chr8:1316609-1316617
2	CTCF	chr8:1316400-1316550	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr8:1316342-1316528	GM19239	blood:	n/a	n/a
4	CTCF	chr8:1316565-1316616	LNCaP	prostate:	n/a	n/a
5	CTCF	chr8:1316560-1316710	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr8:1316480-1316630	Hela-S3	cervix:	n/a	n/a
7	JUND	chr8:1318416-1318487	HepG2	liver:	n/a	chr8:1318463-1318474
8	MAX	chr8:1316365-1316493	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr8:1316324-1316498	HepG2	liver:	n/a	n/a
10	MYC	chr8:1318476-1318496	MCF-7	breast:	n/a	n/a
11	MYC	chr8:1316547-1316564	MCF-7	breast:	n/a	n/a
12	MYC	chr8:1316467-1316541	MCF-7	breast:	n/a	n/a
13	PBX3	chr8:1316358-1316538	GM12878	blood:	n/a	n/a
14	SETDB1	chr8:1314959-1315731	U2OS	brain:	n/a	n/a
15	SUZ12	chr8:1316230-1316633	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF263	chr8:1318342-1318985	HEK293-T-REx	kidney:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1316294-1316344	HCPEpiC	choroid plexus:	n/a
2	chr8:1314612-1314662	GM12891	blood:	n/a
3	chr8:1317547-1317597	HPAEpiC	pulmonary alveolar:	n/a
4	chr8:1318052-1318102	Hela-S3	cervix:	n/a
5	chr8:1318052-1318102	GM19239	blood:	n/a
6	chr8:1316294-1316344	RPTEC	kidney:	n/a
7	chr8:1317118-1317168	U87	brain:	n/a
8	chr8:1316294-1316344	U87	brain:	n/a
9	chr8:1317547-1317597	GM12878	blood:	n/a
10	chr8:1317547-1317597	AG04450	lung:	fetal
11	chr8:1316294-1316344	HAEpiC	amniotic membrane:	n/a
12	chr8:1317547-1317597	ovcar-3	ovarian:	n/a
13	chr8:1317547-1317597	SK-N-MC	brain:	n/a
14	chr8:1314612-1314662	HCM	heart:	n/a
15	chr8:1317547-1317597	HRCEpiC	kidney:	n/a
16	chr8:1314612-1314662	GM19239	blood:	n/a
17	chr8:1318052-1318102	HepG2	liver:	n/a
18	chr8:1314612-1314662	RPTEC	kidney:	n/a
19	chr8:1314612-1314662	HCF	heart:	n/a
20	chr8:1316294-1316344	AG04450	lung:	fetal
21	chr8:1314612-1314662	LNCaP	prostate:	n/a
22	chr8:1318206-1318256	K562	blood:	n/a
23	chr8:1314612-1314662	NH-A	brain:	n/a
24	chr8:1316294-1316344	Hela-S3	cervix:	n/a
25	chr8:1318052-1318102	AG10803	skin:	n/a
26	chr8:1318206-1318256	HAEpiC	amniotic membrane:	n/a
27	chr8:1318206-1318256	GM12892	blood:	n/a
28	chr8:1318052-1318102	K562	blood:	n/a
29	chr8:1317118-1317168	SK-N-SH	brain:	n/a
30	chr8:1318052-1318102	HEK293	kidney:	embryo
31	chr8:1318052-1318102	AG09309	skin:	n/a
32	chr8:1318052-1318102	NT2-D1	testis:	n/a
33	chr8:1316294-1316344	HEEpiC	esophagus:	n/a
34	chr8:1318052-1318102	CMK	blood:	n/a
35	chr8:1318052-1318102	BE2_C	brain:	n/a
36	chr8:1318206-1318256	NH-A	brain:	n/a
37	chr8:1318206-1318256	SKMC	muscle:	n/a
38	chr8:1317118-1317168	MCF-7	breast:	n/a
39	chr8:1317547-1317597	HRPEpiC	eye:	n/a
40	chr8:1317547-1317597	HL-60	blood:	n/a
41	chr8:1316294-1316344	GM06990	blood:	n/a
42	chr8:1317118-1317168	GM19239	blood:	n/a
43	chr8:1318206-1318256	AG09319	gingival:	n/a
44	chr8:1317118-1317168	HEEpiC	esophagus:	n/a
45	chr8:1318206-1318256	HCT-116	colon:	n/a
46	chr8:1318206-1318256	MCF-7	breast:	n/a
47	chr8:1317547-1317597	MCF10A-Er-Src	breast:	n/a
48	chr8:1317547-1317597	NHBE	bronchial:	n/a
49	chr8:1316294-1316344	Jurkat	blood:	n/a
50	chr8:1314612-1314662	AoSMC	blood vessel:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERICH1-4	chr8:1316808-1317999	ENSG00000260721.1

No data

Variant related genes	Relation type
ENSG00000260721	TF binding region
ENSG00000260721	CpG island

Extended variants
information (count: 307 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:307 , 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	rs571781050	chr8:1314267-1314268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112618164	chr8:1314286-1314287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547616351	chr8:1314308-1314309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567596781	chr8:1314337-1314338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536594000	chr8:1314344-1314345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369317684	chr8:1314352-1314353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182187818	chr8:1314359-1314360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538681757	chr8:1314387-1314388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187160625	chr8:1314423-1314424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368963702	chr8:1314435-1314436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531880931	chr8:1314450-1314451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572172490	chr8:1314457-1314458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541212880	chr8:1314469-1314470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550041513	chr8:1314531-1314532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116018261	chr8:1314559-1314560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116326609	chr8:1314570-1314571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191604531	chr8:1314571-1314572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141681517	chr8:1314577-1314578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558660658	chr8:1314581-1314582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565217013	chr8:1314583-1314584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527807684	chr8:1314613-1314614	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs547580011	chr8:1314632-1314633	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs532560977	chr8:1314663-1314664	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs185386589	chr8:1314680-1314681	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs530289443	chr8:1314691-1314692	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572243392	chr8:1314721-1314722	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs569606322	chr8:1314749-1314750	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs547535282	chr8:1314752-1314753	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs538272189	chr8:1314772-1314773	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs150121811	chr8:1314794-1314795	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs189863318	chr8:1314802-1314803	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs536659253	chr8:1314829-1314830	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs193265782	chr8:1314856-1314857	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs554796929	chr8:1314869-1314870	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs554632828	chr8:1314890-1314891	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs73528813	chr8:1314924-1314925	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs559921255	chr8:1314926-1314927	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs113389774	chr8:1314936-1314937	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs556988371	chr8:1314937-1314938	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs577101223	chr8:1314938-1314939	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs545051238	chr8:1314940-1314941	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112345812	chr8:1314942-1314943	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565325888	chr8:1314981-1314982	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs74945891	chr8:1315011-1315012	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs79912930	chr8:1315013-1315014	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs542575178	chr8:1315054-1315055	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562774982	chr8:1315085-1315086	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs572197632	chr8:1315089-1315090	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs541136548	chr8:1315124-1315125	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs377507924	chr8:1315126-1315127	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1312200-1315400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:1313000-1314600	Weak transcription	Fetal Brain Female	brain
3	chr8:1313200-1314800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:1314000-1314400	Weak transcription	Fetal Brain Male	brain
5	chr8:1314400-1316200	Enhancers	Fetal Brain Male	brain
6	chr8:1314600-1315200	ZNF genes & repeats	Fetal Brain Female	brain
7	chr8:1314600-1316600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:1314800-1316600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:1315200-1315600	Weak transcription	Fetal Brain Female	brain
10	chr8:1315400-1315600	Enhancers	Brain Germinal Matrix	brain
11	chr8:1315400-1315600	Weak transcription	Right Atrium	heart
12	chr8:1315400-1315600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:1315400-1315600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
14	chr8:1315400-1316200	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr8:1315400-1316400	Enhancers	Colon Smooth Muscle	Colon
16	chr8:1315400-1316600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr8:1315600-1315800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:1315600-1315800	Enhancers	Right Atrium	heart
19	chr8:1315600-1316000	Enhancers	Brain Hippocampus Middle	brain
20	chr8:1315600-1316000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr8:1315600-1316000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
22	chr8:1315600-1316200	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr8:1315600-1316200	Enhancers	Brain Substantia Nigra	brain
24	chr8:1315600-1316200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr8:1315600-1316400	Enhancers	Brain Anterior Caudate	brain
26	chr8:1315600-1316400	Bivalent Enhancer	Fetal Stomach	stomach
27	chr8:1315600-1316600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:1315600-1316600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr8:1315600-1317200	Enhancers	Fetal Brain Female	brain
30	chr8:1315600-1317800	Enhancers	Adipose Nuclei	Adipose
31	chr8:1315800-1316400	Enhancers	Brain Angular Gyrus	brain
32	chr8:1315800-1316400	Enhancers	Rectal Smooth Muscle	rectum
33	chr8:1315800-1316600	Enhancers	Brain Cingulate Gyrus	brain
34	chr8:1315800-1336800	Weak transcription	Right Atrium	heart
35	chr8:1316000-1316200	Bivalent Enhancer	Fetal Lung	lung
36	chr8:1316000-1316200	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr8:1316000-1316400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
38	chr8:1316000-1317800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr8:1316000-1318800	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:1316200-1316400	Active TSS	Brain Germinal Matrix	brain
41	chr8:1316200-1316400	Bivalent Enhancer	Fetal Brain Male	brain
42	chr8:1316200-1316600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:1316200-1316600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
44	chr8:1316200-1316600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
45	chr8:1316400-1316600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
46	chr8:1316400-1316800	Enhancers	Fetal Stomach	stomach
47	chr8:1316400-1320000	Weak transcription	Brain Anterior Caudate	brain
48	chr8:1316400-1320800	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:1316400-1321000	Weak transcription	Brain Angular Gyrus	brain
50	chr8:1316600-1316800	Bivalent Enhancer	Fetal Brain Male	brain

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