Variant report

Variant	nsv522858
Chromosome Location	chr6:86550985-86578833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:151)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:151 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:86578018-86578101	K562	blood:	n/a	n/a
2	BACH1	chr6:86576041-86576233	H1-hESC	embryonic stem cell:	n/a	n/a
3	BDP1	chr6:86552462-86552680	Hela-S3	cervix:	n/a	n/a
4	BRF1	chr6:86552462-86552681	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr6:86565051-86565149	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr6:86574436-86574445	LNCaP	prostate:	n/a	n/a
7	CTCF	chr6:86574360-86574510	HPF	lung:	n/a	n/a
8	CTCF	chr6:86574520-86574670	HCM	heart:	n/a	n/a
9	CTCF	chr6:86574360-86574510	HEK293	kidney:	n/a	n/a
10	CTCF	chr6:86574340-86574490	HCM	heart:	n/a	n/a
11	CTCF	chr6:86574360-86574510	AG04450	lung:	n/a	n/a
12	CTCF	chr6:86574315-86574476	HepG2	liver:	n/a	n/a
13	CTCF	chr6:86576100-86576250	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr6:86574266-86574587	MCF-7	breast:	n/a	n/a
15	CTCF	chr6:86574300-86574450	BE2_C	brain:	n/a	n/a
16	CTCF	chr6:86574380-86574530	HMF	breast:	n/a	n/a
17	CTCF	chr6:86552462-86552550	A549	lung:	n/a	n/a
18	CTCF	chr6:86574360-86574510	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr6:86574340-86574490	HMEC	breast:	n/a	n/a
20	CTCF	chr6:86574580-86574730	HVMF	connective:	n/a	n/a
21	CTCF	chr6:86574320-86574470	NHEK	skin:	n/a	n/a
22	CTCF	chr6:86574320-86574470	HPF	lung:	n/a	n/a
23	CTCF	chr6:86574320-86574470	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr6:86574400-86574550	Caco-2	colon:	n/a	n/a
25	CTCF	chr6:86574340-86574490	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr6:86574400-86574425	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr6:86574340-86574490	HVMF	connective:	n/a	n/a
28	CTCF	chr6:86551562-86551656	GM13976	blood:	n/a	n/a
29	CTCF	chr6:86574340-86574490	HCFaa	heart:	n/a	n/a
30	CTCF	chr6:86574280-86574430	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr6:86574340-86574490	BJ	skin:	n/a	n/a
32	CTCF	chr6:86574420-86574570	HFF	foreskin:	n/a	n/a
33	CTCF	chr6:86574280-86574430	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr6:86574320-86574470	AG09319	gingival:	n/a	n/a
35	CTCF	chr6:86574280-86574430	HepG2	liver:	n/a	n/a
36	CTCF	chr6:86574320-86574470	HCM	heart:	n/a	n/a
37	CTCF	chr6:86574295-86574537	MCF-7	breast:	n/a	n/a
38	CTCF	chr6:86574360-86574510	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr6:86574360-86574510	SAEC	small airway:	n/a	n/a
40	CTCF	chr6:86574380-86574530	AG10803	skin:	n/a	n/a
41	CTCF	chr6:86574426-86574436	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr6:86575320-86575470	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr6:86574317-86574472	LNCaP	prostate:	n/a	n/a
44	CTCF	chr6:86574360-86574510	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr6:86574295-86574541	IMR90	lung:	n/a	n/a
46	CTCF	chr6:86574380-86574530	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr6:86574271-86574509	A549	lung:	n/a	n/a
48	CTCF	chr6:86574360-86574510	NHLF	lung:	n/a	n/a
49	CTCF	chr6:86574340-86574490	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr6:86574307-86574542	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:86386983..86389313-chr6:86573645..86576019,2	MCF-7	breast:
2	chr6:86534169..86534685-chr6:86574198..86574815,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NT5E-7	chr6:86571835-86571903	NONHSAT113873
2	lnc-NT5E-8	chr6:86578671-86579182	NONHSAT113874
3	lnc-NT5E-7	chr6:86565538-86565836	NONHSAT113873

No data

Variant related genes	Relation type
ENSG00000218766	TF binding region
ENSG00000203875	chromatin interactions

Extended variants
information (count: 1483 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1483 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12198061	chr6:86550985-86550986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189608010	chr6:86550986-86550987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552193567	chr6:86550994-86550995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570773411	chr6:86551002-86551003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115382282	chr6:86551021-86551022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs118022511	chr6:86551022-86551023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567696900	chr6:86551038-86551039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535196428	chr6:86551042-86551043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550615348	chr6:86551051-86551052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181208429	chr6:86551068-86551069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539974643	chr6:86551077-86551078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558064949	chr6:86551084-86551085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573520065	chr6:86551110-86551111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140804180	chr6:86551124-86551125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571501912	chr6:86551155-86551156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369680029	chr6:86551157-86551158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202154260	chr6:86551158-86551159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574052697	chr6:86551175-86551176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544730465	chr6:86551193-86551194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185619204	chr6:86551194-86551195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578032608	chr6:86551204-86551205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377156041	chr6:86551236-86551237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12191212	chr6:86551241-86551242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs564112185	chr6:86551283-86551284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554383658	chr6:86551302-86551303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528399857	chr6:86551314-86551315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574559089	chr6:86551328-86551329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561363437	chr6:86551356-86551357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76260506	chr6:86551481-86551482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141209553	chr6:86551484-86551485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568978777	chr6:86551508-86551509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190173340	chr6:86551511-86551512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551983632	chr6:86551523-86551524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs137903527	chr6:86551529-86551530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181448931	chr6:86551532-86551533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9450341	chr6:86551534-86551535	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs185883127	chr6:86551547-86551548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574089402	chr6:86551549-86551550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191827562	chr6:86551551-86551552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144369586	chr6:86551556-86551557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551814501	chr6:86551559-86551560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148352279	chr6:86551624-86551625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200809550	chr6:86551644-86551645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs202078341	chr6:86551658-86551659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545151593	chr6:86551678-86551679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564328311	chr6:86551694-86551695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572667156	chr6:86551702-86551703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184211087	chr6:86551708-86551709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561601391	chr6:86551731-86551732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141507932	chr6:86551742-86551743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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

Chromatin state (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86546800-86556800	Weak transcription	Right Atrium	heart
2	chr6:86551400-86552800	Enhancers	Dnd41	blood
3	chr6:86552400-86552600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr6:86552400-86552600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:86552400-86552600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:86552400-86552600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:86552400-86552600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:86552400-86552600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr6:86552400-86552600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr6:86552400-86552600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
11	chr6:86552400-86552600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:86552400-86552600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
13	chr6:86552400-86552600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
14	chr6:86552400-86552600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:86552400-86552600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr6:86552400-86552600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:86552400-86552600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr6:86552400-86552600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
19	chr6:86552400-86552600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:86552400-86552600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
21	chr6:86552400-86552600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
22	chr6:86552400-86552600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:86552400-86552600	ZNF genes & repeats	Liver	Liver
24	chr6:86552400-86552600	ZNF genes & repeats	Brain Angular Gyrus	brain
25	chr6:86552400-86552600	ZNF genes & repeats	Brain Anterior Caudate	brain
26	chr6:86552400-86552600	ZNF genes & repeats	Brain Hippocampus Middle	brain
27	chr6:86552400-86552600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
28	chr6:86552400-86552600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:86552400-86552600	ZNF genes & repeats	Brain Substantia Nigra	brain
30	chr6:86552400-86552600	ZNF genes & repeats	Colon Smooth Muscle	Colon
31	chr6:86552400-86552600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr6:86552400-86552600	Enhancers	Fetal Heart	heart
33	chr6:86552400-86552600	ZNF genes & repeats	Stomach Mucosa	stomach
34	chr6:86552400-86552600	Flanking Bivalent TSS/Enh	NH-A	brain
35	chr6:86556800-86557000	ZNF genes & repeats	Right Atrium	heart
36	chr6:86562800-86564200	Enhancers	Ovary	ovary
37	chr6:86563000-86563200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:86563200-86577800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:86563400-86567000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr6:86563800-86564000	ZNF genes & repeats	Pancreas	Pancrea
41	chr6:86564000-86566400	Weak transcription	Pancreas	Pancrea
42	chr6:86564200-86565200	Weak transcription	Ovary	ovary
43	chr6:86565000-86565400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:86565200-86565400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:86565200-86566800	Enhancers	Ovary	ovary
46	chr6:86566400-86566600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:86566400-86566600	Enhancers	Pancreas	Pancrea
48	chr6:86566600-86573400	Weak transcription	Pancreas	Pancrea
49	chr6:86566800-86574200	Weak transcription	Ovary	ovary
50	chr6:86568200-86576800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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