Variant report

Variant	nsv1021292
Chromosome Location	chr6:86611922-86778912
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	ARID3A	chr6:86632675-86632979	HepG2	liver:	n/a	n/a
2	BHLHE40	chr6:86700819-86701140	GM12878	blood:	n/a	n/a
3	BHLHE40	chr6:86685736-86685780	GM12878	blood:	n/a	n/a
4	CEBPB	chr6:86646714-86646969	Hela-S3	cervix:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
5	CEBPB	chr6:86632747-86633096	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr6:86646640-86647004	IMR90	lung:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
7	CEBPB	chr6:86646649-86646989	K562	blood:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
8	CEBPB	chr6:86768810-86768830	HepG2	liver:	n/a	chr6:86768814-86768825
9	CEBPB	chr6:86745797-86746103	MCF-7	breast:	n/a	chr6:86746090-86746101 chr6:86746090-86746101 chr6:86746090-86746103 chr6:86746090-86746103
10	CEBPB	chr6:86646680-86646987	A549	lung:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
11	CEBPB	chr6:86646705-86647085	MCF-7	breast:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
12	CEBPB	chr6:86646644-86647001	HepG2	liver:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
13	CEBPB	chr6:86646644-86647001	H1-hESC	embryonic stem cell:	n/a	chr6:86646818-86646827 chr6:86646817-86646828
14	CHD2	chr6:86685802-86685933	GM12878	blood:	n/a	n/a
15	CTCF	chr6:86632760-86632910	GM12875	blood:	n/a	n/a
16	CTCF	chr6:86632740-86632890	HepG2	liver:	n/a	n/a
17	CTCF	chr6:86738700-86738850	GM06990	blood:	n/a	n/a
18	CTCF	chr6:86632699-86633004	MCF-7	breast:	n/a	n/a
19	CTCF	chr6:86632740-86632890	HPF	lung:	n/a	n/a
20	CTCF	chr6:86632720-86632981	LNCaP	prostate:	n/a	n/a
21	CTCF	chr6:86632800-86632950	HEK293	kidney:	n/a	n/a
22	CTCF	chr6:86632616-86633036	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr6:86683093-86683214	MCF-7	breast:	n/a	n/a
24	CTCF	chr6:86632724-86632884	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr6:86632800-86632950	GM12864	blood:	n/a	n/a
26	CTCF	chr6:86632760-86632910	AG09319	gingival:	n/a	n/a
27	CTCF	chr6:86632780-86632930	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr6:86632760-86632910	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr6:86632740-86632890	RPTEC	kidney:	n/a	n/a
30	CTCF	chr6:86682490-86682560	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr6:86632800-86632950	HCT-116	colon:	n/a	n/a
32	CTCF	chr6:86632780-86632930	GM12864	blood:	n/a	n/a
33	CTCF	chr6:86727118-86727193	GM19238	blood:	n/a	n/a
34	CTCF	chr6:86632730-86632954	GM13977	blood:	n/a	n/a
35	CTCF	chr6:86632760-86632910	GM12867	blood:	n/a	n/a
36	CTCF	chr6:86632452-86633219	A549	lung:	n/a	n/a
37	CTCF	chr6:86632800-86632950	GM12869	blood:	n/a	n/a
38	CTCF	chr6:86632740-86632890	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr6:86632659-86633021	IMR90	lung:	n/a	n/a
40	CTCF	chr6:86632780-86632930	GM12872	blood:	n/a	n/a
41	CTCF	chr6:86632760-86632910	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr6:86632780-86632930	GM12869	blood:	n/a	n/a
43	CTCF	chr6:86632820-86632970	NHEK	skin:	n/a	n/a
44	CTCF	chr6:86632766-86632991	A549	lung:	n/a	n/a
45	CTCF	chr6:86683080-86683230	GM06990	blood:	n/a	n/a
46	CTCF	chr6:86632740-86632890	HCT-116	colon:	n/a	n/a
47	CTCF	chr6:86632740-86632890	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr6:86632743-86632916	A549	lung:	n/a	n/a
49	CTCF	chr6:86632780-86632930	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr6:86632760-86632910	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:86741107..86743196-chr6:86766246..86768757,2	MCF-7	breast:
2	chr6:86632253..86632927-chr6:87646756..87647373,2	K562	blood:
3	chr6:86679171..86681936-chr6:86686395..86689125,2	K562	blood:
4	chr6:86679171..86681936-chr6:86686395..86689125,2	K562	blood:
5	chr6:86741107..86743196-chr6:86766246..86768757,2	MCF-7	breast:
6	chr11:2172562..2173427-chr6:86699284..86699804,2	K562	blood:
7	chr6:86632367..86633291-chr6:86884579..86885474,2	MCF-7	breast:
8	chr6:86722649..86724742-chr6:86768609..86770800,2	MCF-7	breast:
9	chr6:86722649..86724742-chr6:86768609..86770800,2	MCF-7	breast:
10	chr6:86632071..86633265-chr6:86884594..86886454,5	MCF-7	breast:
11	chr6:86657984..86660030-chr6:86660418..86662554,2	MCF-7	breast:
12	chr6:86657984..86660030-chr6:86660418..86662554,2	MCF-7	breast:

Variant related genes	Relation type
RNU4-12P	TF binding region
ENSG00000168830	chromatin interactions

Extended variants
information (count: 3380 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:3380 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185588782	chr6:86611949-86611950	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115503499	chr6:86611955-86611956	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561469387	chr6:86611963-86611964	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576669981	chr6:86612026-86612027	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs36065178	chr6:86612035-86612036	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543645380	chr6:86612038-86612039	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75011302	chr6:86612054-86612055	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147105018	chr6:86612064-86612065	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547806007	chr6:86612104-86612105	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559290132	chr6:86612131-86612132	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530158102	chr6:86612191-86612192	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548233420	chr6:86612227-86612228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190251456	chr6:86612235-86612236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114548567	chr6:86612281-86612282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549722290	chr6:86612288-86612289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569728304	chr6:86612295-86612296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549686267	chr6:86612344-86612345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571549579	chr6:86612367-86612368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538521767	chr6:86612424-86612425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138492667	chr6:86612501-86612502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16876540	chr6:86612519-86612520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs545688377	chr6:86612529-86612530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115243728	chr6:86612534-86612535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182885600	chr6:86612565-86612566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141960152	chr6:86612618-86612619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188817699	chr6:86612632-86612633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191894628	chr6:86612652-86612653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184186571	chr6:86612660-86612661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558870765	chr6:86612768-86612769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577482790	chr6:86612804-86612805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566255643	chr6:86612805-86612806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541336211	chr6:86612845-86612846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559328303	chr6:86612860-86612861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530073144	chr6:86612890-86612891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541816222	chr6:86612892-86612893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188844211	chr6:86612898-86612899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530892496	chr6:86612924-86612925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150662611	chr6:86612934-86612935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139817683	chr6:86612940-86612941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35572036	chr6:86612944-86612945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149375704	chr6:86613004-86613005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565970462	chr6:86613081-86613082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4351219	chr6:86613139-86613140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs554583839	chr6:86613152-86613153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367701411	chr6:86613156-86613157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139482494	chr6:86613162-86613163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536715418	chr6:86613211-86613212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143508118	chr6:86613216-86613217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577323008	chr6:86613218-86613219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541722792	chr6:86613254-86613255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86611000-86618400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:86611800-86612000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:86612000-86612200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:86612200-86612400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:86612400-86616000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:86616000-86617400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:86617600-86618800	Enhancers	Liver	Liver
8	chr6:86618000-86618200	Enhancers	Pancreas	Pancrea
9	chr6:86618400-86618800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:86618400-86618800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:86618400-86618800	ZNF genes & repeats	Aorta	Aorta
12	chr6:86618600-86618800	Enhancers	Pancreas	Pancrea
13	chr6:86618800-86620800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:86618800-86621000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:86618800-86622000	Weak transcription	Aorta	Aorta
16	chr6:86618800-86624000	Weak transcription	Pancreas	Pancrea
17	chr6:86620400-86621400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:86620600-86621000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:86620800-86621200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:86621000-86621200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:86629800-86630000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:86630000-86631000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:86630600-86630800	Enhancers	Brain Anterior Caudate	brain
24	chr6:86630600-86630800	Enhancers	Fetal Lung	lung
25	chr6:86630600-86630800	Enhancers	Ovary	ovary
26	chr6:86631000-86633000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:86632600-86633200	Enhancers	Fetal Lung	lung
28	chr6:86632600-86633200	Enhancers	Ovary	ovary
29	chr6:86632800-86633200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:86632800-86633400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:86632800-86633400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:86633000-86633400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:86633400-86633800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:86633400-86634000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:86633800-86634200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:86634000-86634400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:86634400-86635400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:86646200-86646400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:86647000-86647200	Enhancers	Fetal Lung	lung
40	chr6:86647200-86650200	Weak transcription	Fetal Lung	lung
41	chr6:86648000-86651000	Weak transcription	Aorta	Aorta
42	chr6:86650200-86650600	Enhancers	Fetal Lung	lung
43	chr6:86650200-86651200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr6:86650200-86652000	Enhancers	Ovary	ovary
45	chr6:86650600-86656000	Weak transcription	Fetal Lung	lung
46	chr6:86651000-86651200	ZNF genes & repeats	Aorta	Aorta
47	chr6:86651200-86652400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:86652400-86652800	Enhancers	GM12878-XiMat	blood
49	chr6:86652400-86653200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr6:86654800-86656600	Enhancers	Fetal Brain Male	brain

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