Variant report

Variant	nsv981153
Chromosome Location	chr6:62277791-62287178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:62283970-62284243	GM12878	blood:	n/a	n/a
2	BATF	chr6:62283972-62284263	GM12878	blood:	n/a	n/a
3	BCL11A	chr6:62283933-62284208	GM12878	blood:	n/a	n/a
4	BCL11A	chr6:62283978-62284284	GM12878	blood:	n/a	n/a
5	BHLHE40	chr6:62283930-62284249	HepG2	liver:	n/a	n/a
6	CEBPD	chr6:62283859-62284239	K562	blood:	n/a	n/a
7	CTCF	chr6:62283943-62284253	K562	blood:	n/a	n/a
8	CTCF	chr6:62283982-62284149	K562	blood:	n/a	n/a
9	EBF1	chr6:62283968-62284254	GM12878	blood:	n/a	n/a
10	EBF1	chr6:62283932-62284265	GM12878	blood:	n/a	n/a
11	EP300	chr6:62283838-62284228	GM12878	blood:	n/a	n/a
12	EP300	chr6:62283926-62284182	GM12878	blood:	n/a	n/a
13	FOSL2	chr6:62283867-62284291	HepG2	liver:	n/a	n/a
14	FOSL2	chr6:62283873-62284311	HepG2	liver:	n/a	n/a
15	FOXA1	chr6:62283769-62284224	HepG2	liver:	n/a	n/a
16	FOXM1	chr6:62283911-62284434	GM12878	blood:	n/a	n/a
17	FOXP2	chr6:62283992-62284254	SK-N-MC	brain:	n/a	n/a
18	FOXP2	chr6:62284064-62284204	PFSK-1	brain:	n/a	n/a
19	GABPA	chr6:62283979-62284184	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr6:62283861-62284242	Hela-S3	cervix:	n/a	n/a
21	GATA2	chr6:62283839-62284281	K562	blood:	n/a	n/a
22	HEY1	chr6:62283920-62284205	K562	blood:	n/a	n/a
23	HEY1	chr6:62283920-62284194	HepG2	liver:	n/a	n/a
24	HEY1	chr6:62283956-62284294	HepG2	liver:	n/a	n/a
25	IRF4	chr6:62283807-62284376	GM12878	blood:	n/a	n/a
26	IRF4	chr6:62283797-62284225	GM12878	blood:	n/a	n/a
27	JUND	chr6:62283996-62284208	HepG2	liver:	n/a	n/a
28	JUND	chr6:62283977-62284269	HepG2	liver:	n/a	n/a
29	PAX5	chr6:62283902-62284201	GM12878	blood:	n/a	n/a
30	PAX5	chr6:62283929-62284273	GM12878	blood:	n/a	n/a
31	PAX5	chr6:62283904-62284247	GM12878	blood:	n/a	n/a
32	PAX5	chr6:62283984-62284189	GM12878	blood:	n/a	n/a
33	PBX3	chr6:62283997-62284189	GM12878	blood:	n/a	n/a
34	PBX3	chr6:62283923-62284187	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:62286307-62286358	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:62283951-62284273	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:62283952-62284184	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr6:62283912-62284228	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:62283932-62284211	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr6:62281857-62281934	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr6:62283782-62284291	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr6:62283859-62284280	Hela-S3	cervix:	n/a	n/a
43	POU2F2	chr6:62283983-62284163	GM12878	blood:	n/a	n/a
44	POU2F2	chr6:62283975-62284203	GM12878	blood:	n/a	n/a
45	POU2F2	chr6:62283855-62284355	GM12878	blood:	n/a	n/a
46	REST	chr6:62283963-62284179	GM12878	blood:	n/a	n/a
47	RXRA	chr6:62283802-62284407	HepG2	liver:	n/a	n/a
48	RXRA	chr6:62283949-62284289	HepG2	liver:	n/a	n/a
49	RXRA	chr6:62283882-62284393	GM12878	blood:	n/a	n/a
50	SIN3AK20	chr6:62283934-62284212	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:62284299-62284349	NH-A	brain:	n/a
2	chr6:62284299-62284349	H1-hESC	embryonic stem cell:	embryo
3	chr6:62284299-62284349	HL-60	blood:	n/a
4	chr6:62284299-62284349	HMEC	breast:	n/a
5	chr6:62284299-62284349	BJ	skin:	n/a
6	chr6:62284299-62284349	HEEpiC	esophagus:	n/a
7	chr6:62284299-62284349	MCF10A-Er-Src	breast:	n/a
8	chr6:62284299-62284349	SAEC	small airway:	n/a
9	chr6:62284299-62284349	NHDF-neo	bronchial:	n/a
10	chr6:62284299-62284349	AG09319	gingival:	n/a
11	chr6:62284299-62284349	U87	brain:	n/a
12	chr6:62284299-62284349	SKMC	muscle:	n/a
13	chr6:62284299-62284349	AG09309	skin:	n/a
14	chr6:62284299-62284349	Hela-S3	cervix:	n/a
15	chr6:62284299-62284349	HNPCEpiC	eye:	n/a
16	chr6:62284299-62284349	HCF	heart:	n/a
17	chr6:62284299-62284349	HepG2	liver:	n/a
18	chr6:62284299-62284349	NT2-D1	testis:	n/a
19	chr6:62284299-62284349	NB4	blood:	n/a
20	chr6:62284299-62284349	IMR90	lung:	fetal
21	chr6:62284299-62284349	AoSMC	blood vessel:	n/a
22	chr6:62284299-62284349	SK-N-SH_RA	brain:	n/a
23	chr6:62284299-62284349	A549	lung:	n/a
24	chr6:62284299-62284349	Jurkat	blood:	n/a
25	chr6:62284299-62284349	PFSK-1	brain:	n/a
26	chr6:62284299-62284349	K562	blood:	n/a
27	chr6:62284299-62284349	CMK	blood:	n/a
28	chr6:62284299-62284349	AG04449	skin:	fetal
29	chr6:62284299-62284349	RPTEC	kidney:	n/a
30	chr6:62284299-62284349	SK-N-SH	brain:	n/a
31	chr6:62284299-62284349	HRPEpiC	eye:	n/a
32	chr6:62284299-62284349	HEK293	kidney:	embryo
33	chr6:62284299-62284349	PANC-1	pancreas:	n/a
34	chr6:62284299-62284349	BE2_C	brain:	n/a
35	chr6:62284299-62284349	NHBE	bronchial:	n/a
36	chr6:62284299-62284349	LNCaP	prostate:	n/a
37	chr6:62284299-62284349	HCPEpiC	choroid plexus:	n/a
38	chr6:62284299-62284349	ECC-1	luminal epithelium:	n/a
39	chr6:62284299-62284349	PrEC	prostate:	n/a
40	chr6:62284299-62284349	Caco-2	colon:	n/a
41	chr6:62284299-62284349	HUVEC	blood vessel:	n/a
42	chr6:62284299-62284349	MCF-7	breast:	n/a
43	chr6:62284299-62284349	HCT-116	colon:	n/a
44	chr6:62284299-62284349	HAEpiC	amniotic membrane:	n/a
45	chr6:62284299-62284349	HPAEpiC	pulmonary alveolar:	n/a
46	chr6:62284299-62284349	GM12891	blood:	n/a
47	chr6:62284299-62284349	SK-N-MC	brain:	n/a
48	chr6:62284299-62284349	Hepatocyte	liver:	n/a
49	chr6:62284299-62284349	HRE	kidney:	n/a
50	chr6:62284299-62284349	ovcar-3	ovarian:	n/a

No data

Variant related genes	Relation type
MTRNR2L9	TF binding region
MTRNR2L9	CpG island

Extended variants
information (count: 398 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557312815	chr6:62278805-62278806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546117910	chr6:62278821-62278822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534823116	chr6:62278862-62278863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79716972	chr6:62278863-62278864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377052632	chr6:62278882-62278883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138828130	chr6:62278884-62278885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs70993163	chr6:62278885-62278886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368035700	chr6:62278886-62278887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537342704	chr6:62278889-62278890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558865511	chr6:62278900-62278901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577129660	chr6:62278913-62278914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201642004	chr6:62278954-62278955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7747680	chr6:62278958-62278959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552823186	chr6:62278968-62278969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141813174	chr6:62278971-62278972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187753068	chr6:62278985-62278986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191059145	chr6:62279026-62279027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150576663	chr6:62279033-62279034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546102832	chr6:62279054-62279055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34363180	chr6:62279074-62279075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564423619	chr6:62279095-62279096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528706417	chr6:62279113-62279114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9360457	chr6:62279118-62279119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs6453545	chr6:62279155-62279156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs368059254	chr6:62279170-62279171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529396858	chr6:62279174-62279175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115258299	chr6:62279187-62279188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182842552	chr6:62279247-62279248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13210445	chr6:62279271-62279272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566604957	chr6:62279281-62279282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143128741	chr6:62279292-62279293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146220270	chr6:62279294-62279295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570740858	chr6:62279306-62279307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187476329	chr6:62279309-62279310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553122961	chr6:62279311-62279312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574506664	chr6:62279318-62279319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527458323	chr6:62279330-62279331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530046089	chr6:62279363-62279364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535540278	chr6:62279384-62279385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139229285	chr6:62279390-62279391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1577649	chr6:62279397-62279398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs149900487	chr6:62279405-62279406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537757047	chr6:62279492-62279493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564487348	chr6:62279519-62279520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573473062	chr6:62279537-62279538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556088999	chr6:62279545-62279546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9360462	chr6:62279581-62279582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs9442682	chr6:62279627-62279628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529435529	chr6:62279630-62279631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76541599	chr6:62279643-62279644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62278800-62284600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:62284600-62284800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:62284600-62284800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
4	chr6:62284600-62284800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr6:62284600-62284800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:62284600-62284800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:62284600-62284800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
8	chr6:62284600-62284800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr6:62284600-62284800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
10	chr6:62284600-62284800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr6:62284600-62284800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:62284600-62284800	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr6:62284600-62284800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:62284600-62284800	ZNF genes & repeats	Colon Smooth Muscle	Colon
15	chr6:62284600-62284800	Enhancers	Fetal Heart	heart
16	chr6:62284600-62284800	ZNF genes & repeats	Pancreas	Pancrea
17	chr6:62284800-62285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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