Variant report

Variant	nsv890715
Chromosome Location	chr8:34568015-34700530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:303)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:34635478-34635568	K562	blood:	n/a	n/a
2	BACH1	chr8:34682092-34682115	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:34593814-34593967	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr8:34666435-34666675	GM12878	blood:	n/a	chr8:34666588-34666599
5	CEBPB	chr8:34594096-34594341	HepG2	liver:	n/a	chr8:34594208-34594219
6	CEBPB	chr8:34594156-34594356	A549	lung:	n/a	chr8:34594208-34594219
7	CEBPB	chr8:34681739-34682175	HepG2	liver:	n/a	n/a
8	CEBPB	chr8:34627420-34627515	A549	lung:	n/a	n/a
9	CEBPB	chr8:34638946-34639265	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr8:34633426-34633445	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr8:34592826-34593009	K562	blood:	n/a	chr8:34592925-34592936
12	CEBPB	chr8:34696697-34696787	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr8:34592816-34593113	IMR90	lung:	n/a	chr8:34592925-34592936
14	CEBPB	chr8:34681957-34682199	A549	lung:	n/a	n/a
15	CEBPB	chr8:34592773-34593081	HepG2	liver:	n/a	chr8:34592925-34592936
16	CTCF	chr8:34677260-34677410	SAEC	small airway:	n/a	n/a
17	CTCF	chr8:34627760-34627910	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr8:34677260-34677410	RPTEC	kidney:	n/a	n/a
19	CTCF	chr8:34627752-34627879	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr8:34677320-34677470	HMEC	breast:	n/a	n/a
21	CTCF	chr8:34627780-34627930	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr8:34627800-34627950	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr8:34677211-34677454	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr8:34627780-34627930	HEEpiC	esophagus:	n/a	n/a
25	CTCF	chr8:34677380-34677530	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr8:34627720-34627870	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr8:34677260-34677410	HRE	kidney:	n/a	n/a
28	CTCF	chr8:34586108-34586198	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr8:34677280-34677430	HMEC	breast:	n/a	n/a
30	CTCF	chr8:34586040-34586190	HRE	kidney:	n/a	n/a
31	CTCF	chr8:34586080-34586230	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr8:34585840-34585990	HMEC	breast:	n/a	n/a
33	CTCF	chr8:34627800-34627950	HA-sp	spinal cord:	n/a	n/a
34	CTCF	chr8:34677324-34677403	NHEK	skin:	n/a	n/a
35	CTCF	chr8:34627760-34627910	HMEC	breast:	n/a	n/a
36	CTCF	chr8:34593600-34593750	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr8:34606915-34607193	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr8:34586160-34586310	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr8:34677240-34677390	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr8:34677280-34677430	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr8:34633256-34633292	GM20000	blood:	n/a	n/a
42	CTCF	chr8:34593600-34593750	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr8:34606860-34607010	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr8:34586020-34586170	HL-60	blood:	n/a	n/a
45	CTCF	chr8:34662988-34663016	Medullo	brain:	n/a	n/a
46	CTCF	chr8:34677280-34677430	RPTEC	kidney:	n/a	n/a
47	CTCF	chr8:34638675-34638729	GM20000	blood:	n/a	n/a
48	CTCF	chr8:34627720-34627870	HMEC	breast:	n/a	n/a
49	CTCF	chr8:34593520-34593670	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr8:34677335-34677358	Gliobla	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:34623416..34626015-chr8:34627513..34629810,2	K562	blood:
2	chr8:34621951..34624916-chr8:34628310..34630031,2	K562	blood:
3	chr8:34621951..34624916-chr8:34628310..34630031,2	K562	blood:
4	chr8:34606757..34608580-chr8:34608809..34610409,2	K562	blood:
5	chr8:34623416..34626015-chr8:34627513..34629810,2	K562	blood:
6	chr8:34631157..34633123-chr8:34636753..34638642,2	K562	blood:
7	chr8:34631157..34633123-chr8:34636753..34638642,2	K562	blood:
8	chr8:34606757..34608580-chr8:34608809..34610409,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC5D-3	chr8:34650275-34650462	NONHSAT125996
2	lnc-UNC5D-3	chr8:34650276-34650462	XLOC_006770
3	lnc-UNC5D-3	chr8:34642569-34642589	NONHSAT125996
4	lnc-UNC5D-3	chr8:34642570-34642589	XLOC_006770

No data

Variant related genes	Relation type
ENSG00000254344	TF binding region

Extended variants
information (count: 2870 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:2870 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540242570	chr8:34571018-34571019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs185449854	chr8:34571036-34571037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529026193	chr8:34571043-34571044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550261917	chr8:34571085-34571086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562200887	chr8:34571091-34571092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs533359240	chr8:34571092-34571093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs147779860	chr8:34571117-34571118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs377762587	chr8:34571136-34571137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs551525006	chr8:34571162-34571163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs189481707	chr8:34571164-34571165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs534205948	chr8:34571186-34571187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549391110	chr8:34571203-34571204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs181175073	chr8:34571239-34571240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs563536884	chr8:34571278-34571279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs150720611	chr8:34571284-34571285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs578112482	chr8:34571296-34571297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs372170779	chr8:34571297-34571298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs557637645	chr8:34571320-34571321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs138983695	chr8:34571321-34571322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs540149401	chr8:34571348-34571349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs7822537	chr8:34571397-34571398	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184834330	chr8:34571404-34571405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs549296612	chr8:34571427-34571428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs543765296	chr8:34571453-34571454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs149962282	chr8:34571463-34571464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs532836611	chr8:34571472-34571473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs144130112	chr8:34571474-34571475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs139935025	chr8:34571504-34571505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs369502055	chr8:34571523-34571524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs34300205	chr8:34571530-34571531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs375880460	chr8:34571550-34571551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs567240651	chr8:34571561-34571562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs528027225	chr8:34571578-34571579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs370379906	chr8:34571613-34571614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs115562271	chr8:34571625-34571626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs567901897	chr8:34571630-34571631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs538250330	chr8:34571631-34571632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs534294304	chr8:34571713-34571714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77577160	chr8:34571719-34571720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs79459737	chr8:34571763-34571764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs143373668	chr8:34571777-34571778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs189289992	chr8:34571806-34571807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs180841154	chr8:34571849-34571850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs146589715	chr8:34571874-34571875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs555386496	chr8:34571885-34571886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs141303514	chr8:34571898-34571899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113273215	chr8:34571911-34571912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs143645905	chr8:34571943-34571944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs151253982	chr8:34571963-34571964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs544766013	chr8:34571976-34571977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34571000-34576800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:34571800-34572600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:34603400-34603800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:34606800-34607000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:34606800-34607200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:34607000-34607200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:34607000-34607200	Enhancers	Brain Germinal Matrix	brain
8	chr8:34607200-34609600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:34607200-34609600	Weak transcription	Brain Germinal Matrix	brain
10	chr8:34607400-34610000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:34608800-34609400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:34609000-34610000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:34609200-34610000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:34609400-34610000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:34609400-34610000	Enhancers	Fetal Brain Female	brain
16	chr8:34609400-34610200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:34609400-34611000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:34609400-34611800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:34609600-34609800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:34609600-34610000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:34609600-34610000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:34609600-34610000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:34609600-34610000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:34609600-34610200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:34609600-34610200	Enhancers	Brain Germinal Matrix	brain
26	chr8:34610000-34610200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:34610000-34611000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:34610000-34611000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:34610200-34611200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:34610200-34611200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:34611000-34611200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr8:34611000-34614400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:34611200-34611400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:34611200-34611400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr8:34611200-34611400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr8:34611400-34613200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:34611600-34612200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:34612200-34613200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:34613200-34615400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:34613800-34614000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:34614400-34614600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:34622200-34622400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:34622400-34627400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:34625400-34625800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr8:34625800-34627400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:34626800-34630600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr8:34627000-34628000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:34627000-34628200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:34627400-34627800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:34627400-34627800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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