Variant report

Variant	nsv890976
Chromosome Location	chr8:69100070-69155563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:258)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:69127435-69127591	K562	blood:	n/a	n/a
2	BACH1	chr8:69123048-69123236	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:69141598-69142118	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr8:69127526-69127561	K562	blood:	n/a	n/a
5	BHLHE40	chr8:69104551-69104835	K562	blood:	n/a	n/a
6	BRCA1	chr8:69125400-69125432	GM12878	blood:	n/a	n/a
7	CCNT2	chr8:69127341-69127778	K562	blood:	n/a	chr8:69127549-69127569
8	CEBPB	chr8:69145725-69146263	HepG2	liver:	n/a	chr8:69145893-69145904
9	CEBPB	chr8:69153590-69153710	HepG2	liver:	n/a	n/a
10	CEBPB	chr8:69104574-69104831	K562	blood:	n/a	n/a
11	CEBPB	chr8:69155456-69155953	K562	blood:	n/a	chr8:69155567-69155580
12	CEBPB	chr8:69127492-69127725	K562	blood:	n/a	n/a
13	CEBPD	chr8:69127320-69127761	K562	blood:	n/a	n/a
14	CEBPD	chr8:69127425-69127751	K562	blood:	n/a	n/a
15	CHD2	chr8:69141858-69142072	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr8:69113994-69114009	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr8:69122760-69122910	GM12869	blood:	n/a	n/a
18	CTCF	chr8:69122940-69123090	K562	blood:	n/a	n/a
19	CTCF	chr8:69126556-69126577	Fibrobl	skin:	n/a	n/a
20	CTCF	chr8:69122740-69122890	GM12865	blood:	n/a	n/a
21	CTCF	chr8:69122720-69122870	GM12869	blood:	n/a	n/a
22	CTCF	chr8:69122820-69122970	HCT-116	colon:	n/a	n/a
23	CTCF	chr8:69122660-69122810	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr8:69122760-69122910	HepG2	liver:	n/a	n/a
25	CTCF	chr8:69122780-69122930	GM12868	blood:	n/a	n/a
26	CTCF	chr8:69122820-69122970	GM12864	blood:	n/a	n/a
27	CTCF	chr8:69129882-69129915	Fibrobl	skin:	n/a	n/a
28	CTCF	chr8:69122800-69122950	MCF-7	breast:	n/a	n/a
29	CTCF	chr8:69122740-69122890	Caco-2	colon:	n/a	n/a
30	CTCF	chr8:69122760-69122910	NHLF	lung:	n/a	n/a
31	CTCF	chr8:69122740-69122890	K562	blood:	n/a	n/a
32	CTCF	chr8:69122820-69122970	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr8:69122740-69122890	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr8:69122787-69122852	ProgFib	skin:	n/a	n/a
35	CTCF	chr8:69122700-69122850	HCT-116	colon:	n/a	n/a
36	CTCF	chr8:69100080-69100230	HPF	lung:	n/a	chr8:69100188-69100209 chr8:69100190-69100197 chr8:69100186-69100204
37	CTCF	chr8:69122760-69122910	HMF	breast:	n/a	n/a
38	CTCF	chr8:69122780-69122930	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr8:69122760-69122910	HMEC	breast:	n/a	n/a
40	CTCF	chr8:69122740-69122890	HEK293	kidney:	n/a	n/a
41	CTCF	chr8:69122800-69122950	HFF	foreskin:	n/a	n/a
42	CTCF	chr8:69122754-69122887	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr8:69122820-69122970	HL-60	blood:	n/a	n/a
44	CTCF	chr8:69122645-69123011	K562	blood:	n/a	n/a
45	CTCF	chr8:69122800-69122950	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr8:69122720-69122870	GM12873	blood:	n/a	n/a
47	CTCF	chr8:69122740-69122890	MCF-7	breast:	n/a	n/a
48	CTCF	chr8:69122760-69122910	HPF	lung:	n/a	n/a
49	CTCF	chr8:69122620-69122770	HCT-116	colon:	n/a	n/a
50	CTCF	chr8:69122760-69122910	GM06990	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:69098713..69101152-chr8:69102795..69104441,2	K562	blood:
2	chr8:69150878..69152487-chr8:69153586..69155583,2	MCF-7	breast:
3	chr8:69145174..69147795-chr8:69149459..69151885,2	K562	blood:
4	chr8:69150878..69152487-chr8:69153586..69155583,2	MCF-7	breast:
5	chr8:69122683..69124474-chr8:69132808..69135436,2	MCF-7	breast:
6	chr8:69145174..69147795-chr8:69149459..69151885,2	K562	blood:
7	chr8:69116532..69119083-chr8:69120595..69123100,2	K562	blood:
8	chr8:69098713..69101152-chr8:69102795..69104441,2	K562	blood:
9	chr8:68956215..68958835-chr8:69120539..69123484,2	K562	blood:
10	chr8:69126795..69128703-chr8:69131275..69133013,2	K562	blood:
11	chr8:69084432..69086381-chr8:69131521..69133145,2	MCF-7	breast:
12	chr8:69122683..69124474-chr8:69132808..69135436,2	MCF-7	breast:
13	chr8:69126795..69128703-chr8:69131275..69133013,2	K562	blood:
14	chr8:69116532..69119083-chr8:69120595..69123100,2	K562	blood:
15	chr8:68956759..68958835-chr8:69120502..69122039,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PREX2-2	chr8:69146910-69149265	NONHSAT127091

No data

Variant related genes	Relation type
ENSG00000252210	TF binding region

Extended variants
information (count: 2125 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2125 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1155491	chr8:69100070-69100071	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556828999	chr8:69100076-69100077	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576987484	chr8:69100101-69100102	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573433548	chr8:69100107-69100108	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543978999	chr8:69100142-69100143	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552882224	chr8:69100156-69100157	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572482382	chr8:69100169-69100170	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376207100	chr8:69100196-69100197	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200996853	chr8:69100229-69100230	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561438160	chr8:69100232-69100233	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182591603	chr8:69100279-69100280	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75816386	chr8:69100302-69100303	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564490192	chr8:69100318-69100319	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141752592	chr8:69100331-69100332	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547293973	chr8:69100340-69100341	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560814870	chr8:69100380-69100381	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533472577	chr8:69100390-69100391	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572542707	chr8:69100396-69100397	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34276874	chr8:69100403-69100404	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs117441208	chr8:69100417-69100418	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs113133150	chr8:69100437-69100438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs531681462	chr8:69100474-69100475	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs150580022	chr8:69100486-69100487	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs570536179	chr8:69100488-69100489	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs369539654	chr8:69100514-69100515	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs139622916	chr8:69100569-69100570	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs149551918	chr8:69100583-69100584	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs144228679	chr8:69100598-69100599	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535370582	chr8:69100668-69100669	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs554915641	chr8:69100692-69100693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs560420553	chr8:69100707-69100708	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs185926605	chr8:69100724-69100725	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs575212253	chr8:69100810-69100811	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs543957894	chr8:69100829-69100830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375102708	chr8:69100836-69100837	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs557864350	chr8:69100842-69100843	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs578109685	chr8:69100878-69100879	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs540873288	chr8:69100897-69100898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs140760500	chr8:69100904-69100905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs529562176	chr8:69100940-69100941	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs370844220	chr8:69100985-69100986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs73263351	chr8:69101007-69101008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147912058	chr8:69101036-69101037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531763128	chr8:69101037-69101038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564042641	chr8:69101042-69101043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140044985	chr8:69101052-69101053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571758335	chr8:69101109-69101110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569971987	chr8:69101110-69101111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377458217	chr8:69101114-69101115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532951490	chr8:69101180-69101181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Cancer	16751803	CNVD
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69043600-69107000	Weak transcription	Brain Substantia Nigra	brain
2	chr8:69052600-69104600	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:69075000-69130800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:69075200-69109200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:69075200-69113800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:69076400-69104000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:69076400-69104200	Weak transcription	Adipose Nuclei	Adipose
8	chr8:69078400-69104400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:69078400-69113600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:69086000-69141600	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:69087800-69108800	Weak transcription	Left Ventricle	heart
12	chr8:69090400-69126800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:69090600-69104400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:69092800-69115200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:69096000-69104400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:69096000-69114400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:69097000-69104600	Weak transcription	Brain Anterior Caudate	brain
18	chr8:69097400-69104800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:69097600-69104400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:69097800-69104600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:69097800-69110600	Weak transcription	HUVEC	blood vessel
22	chr8:69097800-69115000	Weak transcription	Fetal Stomach	stomach
23	chr8:69098000-69107600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:69100000-69100200	Enhancers	Lung	lung
25	chr8:69100000-69100400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:69100000-69101000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:69100000-69113600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:69100200-69104600	Weak transcription	Lung	lung
29	chr8:69100400-69104400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:69101000-69103200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:69101600-69101800	Weak transcription	Fetal Brain Male	brain
32	chr8:69101800-69102000	Enhancers	Fetal Brain Male	brain
33	chr8:69102000-69104600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:69102000-69110600	Weak transcription	Fetal Brain Male	brain
35	chr8:69103200-69111600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:69103200-69141400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:69103200-69141800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:69103600-69106400	Weak transcription	Ovary	ovary
39	chr8:69103800-69107000	Weak transcription	Fetal Lung	lung
40	chr8:69104000-69105000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:69104200-69106400	Strong transcription	Adipose Nuclei	Adipose
42	chr8:69104400-69104800	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:69104400-69105200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:69104400-69105600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:69104400-69106400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:69104400-69107400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:69104600-69104800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:69104600-69104800	ZNF genes & repeats	Lung	lung
49	chr8:69104600-69105400	Strong transcription	Brain Anterior Caudate	brain
50	chr8:69104600-69105400	Strong transcription	Brain Hippocampus Middle	brain

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