Variant report

Variant	nsv1032902
Chromosome Location	chr6:65063881-65114111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr6:65084655-65084659	HepG2	liver:	n/a	n/a
2	CTCF	chr6:65063780-65063930	HBMEC	blood vessel:	n/a	n/a
3	E2F4	chr6:65077027-65077090	MCF10A-Er-Src	breast:	n/a	n/a
4	FOXA1	chr6:65099961-65100294	HepG2	liver:	n/a	n/a
5	FOXA1	chr6:65099224-65099535	T-47D	breast:	n/a	n/a
6	FOXA2	chr6:65099868-65100292	A549	lung:	n/a	n/a
7	FOXA2	chr6:65099782-65100428	A549	lung:	n/a	n/a
8	GATA3	chr6:65099240-65099524	T-47D	breast:	n/a	n/a
9	GATA3	chr6:65065528-65065691	SH-SY5Y	brain:	n/a	n/a
10	GATA3	chr6:65099289-65099421	MCF-7	breast:	n/a	n/a
11	GATA3	chr6:65099208-65099717	MCF-7	breast:	n/a	n/a
12	GATA3	chr6:65110306-65110591	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr6:65099254-65099472	T-47D	breast:	n/a	n/a
14	GATA3	chr6:65098948-65099700	MCF-7	breast:	n/a	n/a
15	JUN	chr6:65086400-65086545	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr6:65086152-65086668	H1-hESC	embryonic stem cell:	n/a	n/a
17	KAP1	chr6:65081694-65082000	HEK293	kidney:	n/a	n/a
18	MAFF	chr6:65085905-65086194	HepG2	liver:	n/a	n/a
19	MAFF	chr6:65109380-65109604	HepG2	liver:	n/a	chr6:65109489-65109507
20	MAFK	chr6:65085889-65086185	HepG2	liver:	n/a	n/a
21	MAFK	chr6:65089973-65090032	HepG2	liver:	n/a	chr6:65089982-65089996 chr6:65089983-65089994 chr6:65089983-65089994 chr6:65089983-65089999
22	MAFK	chr6:65085931-65086191	HepG2	liver:	n/a	n/a
23	MAFK	chr6:65109367-65109591	HepG2	liver:	n/a	chr6:65109490-65109505 chr6:65109473-65109487
24	MAFK	chr6:65085909-65086174	IMR90	lung:	n/a	n/a
25	MAFK	chr6:65109357-65109737	HepG2	liver:	n/a	chr6:65109490-65109505 chr6:65109473-65109487
26	MAFK	chr6:65091589-65091820	HepG2	liver:	n/a	chr6:65091725-65091739 chr6:65091722-65091738
27	MAX	chr6:65108045-65108259	NB4	blood:	n/a	n/a
28	NR2F2	chr6:65099300-65099542	MCF-7	breast:	n/a	n/a
29	POLR2A	chr6:65094217-65094417	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr6:65066592-65066659	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr6:65077099-65077299	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr6:65094554-65094842	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr6:65068177-65068364	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr6:65099890-65100064	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr6:65070456-65070656	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr6:65069246-65069316	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr6:65099926-65100117	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr6:65112343-65112599	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr6:65099640-65099762	K562	blood:	n/a	n/a
40	POLR2A	chr6:65099660-65099780	H1-hESC	embryonic stem cell:	n/a	n/a
41	RFX5	chr6:65086468-65086583	H1-hESC	embryonic stem cell:	n/a	n/a
42	SETDB1	chr6:65081659-65082139	U2OS	brain:	n/a	n/a
43	SIN3AK20	chr6:65099252-65099565	MCF-7	breast:	n/a	n/a
44	SIN3AK20	chr6:65099132-65099717	MCF-7	breast:	n/a	n/a
45	SPI1	chr6:65069564-65069888	HL-60	blood:	n/a	n/a
46	STAT3	chr6:65073811-65073880	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr6:65097383-65097606	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr6:65106958-65107011	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr6:65110757-65110957	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr6:65096413-65096790	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:65099958-65100008	Hepatocyte	liver:	n/a
2	chr6:65099958-65100008	AG10803	skin:	n/a
3	chr6:65099958-65100008	IMR90	lung:	fetal
4	chr6:65099958-65100008	CMK	blood:	n/a
5	chr6:65099958-65100008	BE2_C	brain:	n/a
6	chr6:65099958-65100008	GM19239	blood:	n/a
7	chr6:65099958-65100008	A549	lung:	n/a
8	chr6:65099958-65100008	PFSK-1	brain:	n/a
9	chr6:65099958-65100008	HMEC	breast:	n/a
10	chr6:65099958-65100008	GM06990	blood:	n/a
11	chr6:65099958-65100008	SKMC	muscle:	n/a
12	chr6:65099958-65100008	AG09319	gingival:	n/a
13	chr6:65099958-65100008	SAEC	small airway:	n/a
14	chr6:65099958-65100008	SK-N-SH	brain:	n/a
15	chr6:65099958-65100008	LNCaP	prostate:	n/a
16	chr6:65099958-65100008	ProgFib	skin:	n/a
17	chr6:65099958-65100008	Jurkat	blood:	n/a
18	chr6:65099958-65100008	NB4	blood:	n/a
19	chr6:65099958-65100008	HIPEpiC	eye:	n/a
20	chr6:65099958-65100008	AG04450	lung:	fetal
21	chr6:65099958-65100008	HEEpiC	esophagus:	n/a
22	chr6:65099958-65100008	HAEpiC	amniotic membrane:	n/a
23	chr6:65099958-65100008	HRPEpiC	eye:	n/a
24	chr6:65099958-65100008	GM12891	blood:	n/a
25	chr6:65099958-65100008	HCT-116	colon:	n/a
26	chr6:65099958-65100008	SK-N-MC	brain:	n/a
27	chr6:65099958-65100008	HNPCEpiC	eye:	n/a
28	chr6:65099958-65100008	MCF10A-Er-Src	breast:	n/a
29	chr6:65099958-65100008	HUVEC	blood vessel:	n/a
30	chr6:65099958-65100008	PrEC	prostate:	n/a
31	chr6:65099958-65100008	HRCEpiC	kidney:	n/a
32	chr6:65099958-65100008	HCM	heart:	n/a
33	chr6:65099958-65100008	NH-A	brain:	n/a
34	chr6:65099958-65100008	RPTEC	kidney:	n/a
35	chr6:65099958-65100008	HCPEpiC	choroid plexus:	n/a
36	chr6:65099958-65100008	GM12878	blood:	n/a
37	chr6:65099958-65100008	AoSMC	blood vessel:	n/a
38	chr6:65099958-65100008	U87	brain:	n/a
39	chr6:65099958-65100008	HL-60	blood:	n/a
40	chr6:65099958-65100008	HRE	kidney:	n/a
41	chr6:65099958-65100008	AG04449	skin:	fetal
42	chr6:65099958-65100008	T-47D	breast:	n/a
43	chr6:65099958-65100008	HEK293	kidney:	embryo
44	chr6:65099958-65100008	AG09309	skin:	n/a
45	chr6:65099958-65100008	MCF-7	breast:	n/a
46	chr6:65099958-65100008	BJ	skin:	n/a
47	chr6:65099958-65100008	HPAEpiC	pulmonary alveolar:	n/a
48	chr6:65099958-65100008	Hela-S3	cervix:	n/a
49	chr6:65099958-65100008	SK-N-SH_RA	brain:	n/a
50	chr6:65099958-65100008	HepG2	liver:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:65090547..65093920-chr6:65096939..65100016,3	MCF-7	breast:
2	chr6:65070131..65072480-chr6:65075607..65077474,2	MCF-7	breast:
3	chr6:65090547..65093920-chr6:65096939..65100016,3	MCF-7	breast:
4	chr6:65105555..65108214-chr6:65112608..65114216,2	K562	blood:
5	chr10:122595797..122596436-chr6:65107139..65107964,2	MCF-7	breast:
6	chr6:65105555..65108214-chr6:65112608..65114216,2	K562	blood:
7	chr6:65070131..65072480-chr6:65075607..65077474,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF3-2	chr6:65087688-65087825	ENSG00000232120.1
2	lnc-PHF3-2	chr6:65089477-65089605	ENSG00000232120.1
3	lnc-PHF3-2	chr6:65110209-65110322	ENSG00000232120.1

No data

Variant related genes	Relation type
ENSG00000232120	TF binding region
ENSG00000232120	CpG island

Extended variants
information (count: 253 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575570859	chr6:65066626-65066627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569639908	chr6:65066629-65066630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192001655	chr6:65066653-65066654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373342557	chr6:65066655-65066656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557593900	chr6:65066658-65066659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73767535	chr6:65066723-65066724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544193620	chr6:65066769-65066770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184154089	chr6:65066781-65066782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561458247	chr6:65066808-65066809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146913173	chr6:65066856-65066857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139219184	chr6:65066895-65066896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112439602	chr6:65066940-65066941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73767537	chr6:65067002-65067003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537232922	chr6:65067028-65067029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552919891	chr6:65067113-65067114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376741992	chr6:65067219-65067220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35891882	chr6:65067220-65067221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55747236	chr6:65067223-65067224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200193074	chr6:65067224-65067225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201307908	chr6:65067226-65067227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571110822	chr6:65067278-65067279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528704250	chr6:65067290-65067291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372315826	chr6:65067313-65067314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574054282	chr6:65067324-65067325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79448207	chr6:65067328-65067329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs637362	chr6:65067351-65067352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs535601569	chr6:65067357-65067358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143178006	chr6:65067381-65067382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10944484	chr6:65067404-65067405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150881344	chr6:65067412-65067413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571468157	chr6:65067457-65067458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10806431	chr6:65067460-65067461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139282952	chr6:65067485-65067486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112236264	chr6:65067492-65067493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539539071	chr6:65067511-65067512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115101156	chr6:65067527-65067528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188581777	chr6:65067531-65067532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78780450	chr6:65067568-65067569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs626316	chr6:65067582-65067583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs114547207	chr6:65067585-65067586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528840775	chr6:65067617-65067618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73453243	chr6:65067636-65067637	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs191486486	chr6:65067643-65067644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529451872	chr6:65067676-65067677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550814254	chr6:65067765-65067766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575883604	chr6:65067810-65067811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs625112	chr6:65067813-65067814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs561326043	chr6:65067832-65067833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551403938	chr6:65067948-65067949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528940910	chr6:65067956-65067957	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65066600-65067000	Enhancers	Adipose Nuclei	Adipose
2	chr6:65067000-65067400	Weak transcription	Adipose Nuclei	Adipose
3	chr6:65067400-65068000	Enhancers	Adipose Nuclei	Adipose
4	chr6:65084400-65084800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:65084600-65085400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr6:65085400-65086600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:65085600-65087000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:65086000-65087000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:65086000-65087000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:65086200-65086400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:65086600-65087000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:65086800-65087000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr6:65091600-65091800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:65091800-65092200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:65094600-65095400	Enhancers	Fetal Heart	heart
16	chr6:65095600-65096000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:65112400-65112600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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