Variant report

Variant	nsv609900
Chromosome Location	chr8:4909163-4961837
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:4919958-4920877	H1-hESC	embryonic stem cell:	n/a	chr8:4920685-4920699
2	BRCA1	chr8:4939017-4939022	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr8:4923935-4924191	IMR90	lung:	n/a	n/a
4	CEBPB	chr8:4923179-4924239	Hela-S3	cervix:	n/a	chr8:4923731-4923742 chr8:4923503-4923516 chr8:4923503-4923514
5	CEBPB	chr8:4919840-4920158	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr8:4919832-4920159	A549	lung:	n/a	n/a
7	CEBPB	chr8:4936575-4936951	HepG2	liver:	n/a	chr8:4936759-4936768 chr8:4936759-4936768 chr8:4936757-4936770 chr8:4936759-4936768
8	CEBPB	chr8:4936602-4936943	K562	blood:	n/a	chr8:4936759-4936768 chr8:4936759-4936768 chr8:4936757-4936770 chr8:4936759-4936768
9	CEBPB	chr8:4919816-4920240	A549	lung:	n/a	n/a
10	CEBPB	chr8:4936558-4936957	Hela-S3	cervix:	n/a	chr8:4936759-4936768 chr8:4936759-4936768 chr8:4936757-4936770 chr8:4936759-4936768
11	CEBPB	chr8:4936578-4936942	IMR90	lung:	n/a	chr8:4936759-4936768 chr8:4936759-4936768 chr8:4936757-4936770 chr8:4936759-4936768
12	CEBPB	chr8:4923869-4924200	HepG2	liver:	n/a	n/a
13	CEBPB	chr8:4923897-4924061	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr8:4919071-4919152	HepG2	liver:	n/a	chr8:4919087-4919098
15	CEBPB	chr8:4919843-4920188	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr8:4936574-4936940	H1-hESC	embryonic stem cell:	n/a	chr8:4936759-4936768 chr8:4936759-4936768 chr8:4936757-4936770 chr8:4936759-4936768
17	CEBPB	chr8:4936578-4936933	A549	lung:	n/a	chr8:4936759-4936768 chr8:4936759-4936768 chr8:4936757-4936770 chr8:4936759-4936768
18	CEBPB	chr8:4919806-4920163	HepG2	liver:	n/a	n/a
19	CTCF	chr8:4919956-4920132	A549	lung:	n/a	chr8:4920039-4920057
20	CTCF	chr8:4919866-4920209	K562	blood:	n/a	chr8:4920039-4920057
21	CTCF	chr8:4919960-4920110	WERI-Rb-1	eye:	n/a	chr8:4920039-4920057
22	CTCF	chr8:4919955-4920155	GM10248	blood:	n/a	chr8:4920039-4920057
23	CTCF	chr8:4919960-4920110	GM12871	blood:	n/a	chr8:4920039-4920057
24	CTCF	chr8:4919920-4920070	RPTEC	kidney:	n/a	chr8:4920039-4920057
25	CTCF	chr8:4920020-4920170	HUVEC	blood vessel:	n/a	chr8:4920039-4920057
26	CTCF	chr8:4919920-4920070	NB4	blood:	n/a	chr8:4920039-4920057
27	CTCF	chr8:4959520-4959670	HepG2	liver:	n/a	n/a
28	CTCF	chr8:4919929-4920146	GM12878	blood:	n/a	chr8:4920039-4920057
29	CTCF	chr8:4959500-4959650	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr8:4959540-4959667	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr8:4919960-4920110	AG04449	skin:	n/a	chr8:4920039-4920057
32	CTCF	chr8:4920000-4920150	BE2_C	brain:	n/a	chr8:4920039-4920057
33	CTCF	chr8:4919848-4920241	GM12878	blood:	n/a	chr8:4920039-4920057
34	CTCF	chr8:4959541-4959640	GM12891	blood:	n/a	n/a
35	CTCF	chr8:4959500-4959650	BE2_C	brain:	n/a	n/a
36	CTCF	chr8:4959420-4959570	GM12875	blood:	n/a	n/a
37	CTCF	chr8:4919920-4920070	GM12865	blood:	n/a	chr8:4920039-4920057
38	CTCF	chr8:4919939-4920178	MCF-7	breast:	n/a	chr8:4920039-4920057
39	CTCF	chr8:4919960-4920110	AG04450	lung:	n/a	chr8:4920039-4920057
40	CTCF	chr8:4919960-4920110	GM12865	blood:	n/a	chr8:4920039-4920057
41	CTCF	chr8:4919980-4920130	GM12865	blood:	n/a	chr8:4920039-4920057
42	CTCF	chr8:4959360-4959510	HRE	kidney:	n/a	n/a
43	CTCF	chr8:4919909-4920161	H1-hESC	embryonic stem cell:	n/a	chr8:4920039-4920057
44	CTCF	chr8:4919980-4920130	BE2_C	brain:	n/a	chr8:4920039-4920057
45	CTCF	chr8:4959460-4959610	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr8:4959480-4959630	K562	blood:	n/a	n/a
47	CTCF	chr8:4959533-4959628	LNCaP	prostate:	n/a	n/a
48	CTCF	chr8:4919980-4920130	AG10803	skin:	n/a	chr8:4920039-4920057
49	CTCF	chr8:4919980-4920130	Hela-S3	cervix:	n/a	chr8:4920039-4920057
50	CTCF	chr8:4919940-4920090	HCM	heart:	n/a	chr8:4920039-4920057

No.	Distal block	Cell Line	Cell type
1	chr8:4919600..4920385-chr8:6687720..6688260,2	K562	blood:
2	chr8:4914258..4917095-chr8:4917428..4919602,2	K562	blood:
3	chr8:4919533..4920406-chr8:5997153..5998101,2	MCF-7	breast:
4	chr8:4914258..4917095-chr8:4917428..4919602,2	K562	blood:
5	chr8:4902858..4905778-chr8:4907306..4909304,2	K562	blood:
6	chr8:4919838..4920394-chr8:5997449..5998189,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSMD1-10	chr8:4930167-4930391	NONHSAT124752

Variant related genes	Relation type
ENSG00000253262	TF binding region

Extended variants
information (count: 1314 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:1314 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1020635	chr8:4909163-4909164	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs537768625	chr8:4909175-4909176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555992055	chr8:4909186-4909187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574193953	chr8:4909211-4909212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541623687	chr8:4909224-4909225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146485571	chr8:4909251-4909252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139987897	chr8:4909260-4909261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185071055	chr8:4909288-4909289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142200116	chr8:4909318-4909319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530695923	chr8:4909320-4909321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117625091	chr8:4909324-4909325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561243667	chr8:4909329-4909330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189446172	chr8:4909340-4909341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151148549	chr8:4909341-4909342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2924738	chr8:4909390-4909391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76550295	chr8:4909401-4909402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566003349	chr8:4909402-4909403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3063341	chr8:4909404-4909405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73186668	chr8:4909405-4909406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202056820	chr8:4909414-4909415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539973136	chr8:4909415-4909416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1962944	chr8:4909416-4909417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557717771	chr8:4909445-4909446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375071258	chr8:4909465-4909466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570110561	chr8:4909485-4909486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577591882	chr8:4909515-4909516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10699181	chr8:4909538-4909539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs33937379	chr8:4909539-4909540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3063342	chr8:4909540-4909541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202087156	chr8:4909541-4909542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115036052	chr8:4909562-4909563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370696429	chr8:4909575-4909576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540251825	chr8:4909593-4909594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567952613	chr8:4909594-4909595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200653283	chr8:4909599-4909600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377387238	chr8:4909608-4909609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534878942	chr8:4909619-4909620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3063344	chr8:4909626-4909627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148888862	chr8:4909637-4909638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397837764	chr8:4909642-4909643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201334587	chr8:4909644-4909645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573786081	chr8:4909645-4909646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553547666	chr8:4909687-4909688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568725627	chr8:4909705-4909706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182201122	chr8:4909707-4909708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368878102	chr8:4909723-4909724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372801540	chr8:4909725-4909726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140041769	chr8:4909727-4909728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201899180	chr8:4909729-4909730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71211113	chr8:4909741-4909742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4908000-4909400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:4909400-4909800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:4909800-4910200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:4917400-4918000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:4917400-4918600	Enhancers	Brain Cingulate Gyrus	brain
6	chr8:4917600-4918200	Enhancers	Brain Hippocampus Middle	brain
7	chr8:4917800-4918200	Enhancers	Brain Anterior Caudate	brain
8	chr8:4918000-4918200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:4918000-4918200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr8:4918000-4918600	Enhancers	Esophagus	oesophagus
11	chr8:4918200-4920200	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:4920000-4920200	Enhancers	Brain Anterior Caudate	brain
13	chr8:4920000-4920600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:4920200-4920600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:4920200-4920600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:4920200-4920600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:4920200-4920600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:4920200-4920600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:4920200-4920600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:4920200-4920600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:4920200-4920600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:4920200-4920600	Enhancers	Brain Hippocampus Middle	brain
23	chr8:4920200-4921400	Enhancers	Fetal Lung	lung
24	chr8:4920400-4920600	Enhancers	Brain Cingulate Gyrus	brain
25	chr8:4920400-4920600	Enhancers	A549	lung
26	chr8:4923400-4924200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:4933600-4934000	Enhancers	Brain Cingulate Gyrus	brain
28	chr8:4933600-4934200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:4933800-4934200	Enhancers	Brain Anterior Caudate	brain
30	chr8:4933800-4934600	Enhancers	Brain Substantia Nigra	brain
31	chr8:4934000-4934200	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr8:4934200-4937400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:4936200-4938000	Enhancers	Fetal Lung	lung
34	chr8:4937400-4938200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:4937600-4938400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:4937800-4938200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:4938200-4940400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:4939600-4940000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr8:4939800-4941200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr8:4940000-4940400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:4940200-4940600	Enhancers	Brain Cingulate Gyrus	brain
42	chr8:4940400-4940600	Enhancers	Brain Anterior Caudate	brain
43	chr8:4940400-4940600	Enhancers	Brain Substantia Nigra	brain
44	chr8:4940400-4941000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr8:4940400-4941000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:4940400-4941200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr8:4940400-4941200	Active TSS	Brain Hippocampus Middle	brain
48	chr8:4940600-4940800	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr8:4940600-4941000	Active TSS	Brain Angular Gyrus	brain
50	chr8:4940600-4941000	Active TSS	Brain Anterior Caudate	brain

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