Variant report

Variant	nsv886218
Chromosome Location	chr6:77415155-77500526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:219)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:219 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:77500256-77500524	HepG2	liver:	n/a	n/a
2	BATF	chr6:77452711-77452954	GM12878	blood:	n/a	chr6:77452825-77452836 chr6:77452785-77452796 chr6:77452811-77452822
3	CCNT2	chr6:77478292-77478511	K562	blood:	n/a	n/a
4	CEBPB	chr6:77436454-77436764	A549	lung:	n/a	n/a
5	CTCF	chr6:77418400-77418550	AG10803	skin:	n/a	n/a
6	CTCF	chr6:77418349-77418646	IMR90	lung:	n/a	n/a
7	CTCF	chr6:77418440-77418590	HEK293	kidney:	n/a	n/a
8	CTCF	chr6:77418420-77418570	NB4	blood:	n/a	n/a
9	CTCF	chr6:77433440-77433590	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr6:77418460-77418610	NHEK	skin:	n/a	n/a
11	CTCF	chr6:77418380-77418530	BE2_C	brain:	n/a	n/a
12	CTCF	chr6:77418400-77418550	NHEK	skin:	n/a	n/a
13	CTCF	chr6:77418420-77418570	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr6:77418600-77418750	RPTEC	kidney:	n/a	n/a
15	CTCF	chr6:77418420-77418570	HMF	breast:	n/a	n/a
16	CTCF	chr6:77418400-77418550	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr6:77418420-77418570	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr6:77418440-77418590	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr6:77418440-77418590	Caco-2	colon:	n/a	n/a
20	CTCF	chr6:77418380-77418530	HCM	heart:	n/a	n/a
21	CTCF	chr6:77418440-77418590	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr6:77498770-77498780	LNCaP	prostate:	n/a	n/a
23	CTCF	chr6:77418440-77418590	BJ	skin:	n/a	n/a
24	CTCF	chr6:77418431-77418596	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr6:77418440-77418590	AG04449	skin:	n/a	n/a
26	CTCF	chr6:77418360-77418510	HAc	cerebellar:	n/a	n/a
27	CTCF	chr6:77418400-77418550	A549	lung:	n/a	n/a
28	CTCF	chr6:77418360-77418510	HepG2	liver:	n/a	n/a
29	CTCF	chr6:77418460-77418610	MCF-7	breast:	n/a	n/a
30	CTCF	chr6:77418433-77418582	ProgFib	skin:	n/a	n/a
31	CTCF	chr6:77418423-77418560	MCF-7	breast:	n/a	n/a
32	CTCF	chr6:77418393-77418604	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr6:77418440-77418590	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr6:77418500-77418650	GM12878	blood:	n/a	n/a
35	CTCF	chr6:77418446-77418525	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr6:77418680-77418830	HepG2	liver:	n/a	n/a
37	CTCF	chr6:77418420-77418570	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr6:77418435-77418550	MCF-7	breast:	n/a	n/a
39	CTCF	chr6:77418400-77418550	HepG2	liver:	n/a	n/a
40	CTCF	chr6:77418420-77418570	HCFaa	heart:	n/a	n/a
41	CTCF	chr6:77418440-77418590	HVMF	connective:	n/a	n/a
42	CTCF	chr6:77418440-77418590	MCF-7	breast:	n/a	n/a
43	CTCF	chr6:77418390-77418589	NHEK	skin:	n/a	n/a
44	CTCF	chr6:77418438-77418550	Fibrobl	skin:	n/a	n/a
45	CTCF	chr6:77418327-77418651	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr6:77418400-77418550	AoAF	blood vessel:	n/a	n/a
47	CTCF	chr6:77418251-77418706	MCF-7	breast:	n/a	n/a
48	CTCF	chr6:77418440-77418590	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr6:77418447-77418554	A549	lung:	n/a	n/a
50	CTCF	chr6:77464520-77464670	GM12874	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:77464445..77465326-chr7:1518971..1519642,2	MCF-7	breast:
2	chr6:77420178..77422936-chr6:77426529..77430097,4	MCF-7	breast:
3	chr6:77418110..77418947-chr6:77570902..77571718,2	MCF-7	breast:
4	chr6:77420178..77422936-chr6:77426529..77430097,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYO6-3	chr6:77484885-77484983	XLOC_005355
2	lnc-MYO6-3	chr6:77484711-77484792	XLOC_005355
3	lnc-MYO6-3	chr6:77484885-77484983	XLOC_005355
4	lnc-MYO6-3	chr6:77484885-77485380	XLOC_005355
5	lnc-MYO6-3	chr6:77484704-77484792	XLOC_005355
6	lnc-MYO6-3	chr6:77484704-77484792	XLOC_005355
7	lnc-MYO6-3	chr6:77484700-77484792	ENSG00000271945.1
8	lnc-MYO6-3	chr6:77484885-77485577	ENSG00000271945.1

No data

Variant related genes	Relation type
ENSG00000271945	TF binding region
CSTF2	miRNA target sites
PBRM1	miRNA target sites
IFT80	miRNA target sites

Extended variants
information (count: 3428 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:3428 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9352376	chr6:77415155-77415156	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs73468493	chr6:77415237-77415238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527733112	chr6:77415246-77415247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556528343	chr6:77415253-77415254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552146444	chr6:77415332-77415333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369887818	chr6:77415435-77415436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568246052	chr6:77415440-77415441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570739739	chr6:77415455-77415456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373298345	chr6:77415456-77415457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556371777	chr6:77415490-77415491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568294098	chr6:77415511-77415512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111680969	chr6:77415517-77415518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553954602	chr6:77415522-77415523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189781922	chr6:77415532-77415533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535334178	chr6:77415631-77415632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558953421	chr6:77415658-77415659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142623265	chr6:77415673-77415674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144779547	chr6:77415674-77415675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562727453	chr6:77415699-77415700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35658596	chr6:77415756-77415757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540348222	chr6:77415765-77415766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541918554	chr6:77415770-77415771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560643155	chr6:77415774-77415775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527651226	chr6:77415802-77415803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552561797	chr6:77415816-77415817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558487265	chr6:77415937-77415938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142080210	chr6:77415965-77415966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531618722	chr6:77415996-77415997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35229426	chr6:77416002-77416003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550136648	chr6:77416016-77416017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568257257	chr6:77416183-77416184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535647189	chr6:77416197-77416198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547137595	chr6:77416301-77416302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150846321	chr6:77416330-77416331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574657356	chr6:77416375-77416376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557717400	chr6:77416462-77416463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1379669	chr6:77416479-77416480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575987925	chr6:77416496-77416497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372807909	chr6:77416516-77416517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139266754	chr6:77416520-77416521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149567853	chr6:77416529-77416530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113204616	chr6:77416545-77416546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs67702724	chr6:77416546-77416547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs66636253	chr6:77416573-77416574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35072021	chr6:77416576-77416577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574646279	chr6:77416604-77416605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576859721	chr6:77416609-77416610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144211197	chr6:77416623-77416624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560354541	chr6:77416632-77416633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572480075	chr6:77416755-77416756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	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
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
early-passage human iPS cells	21368824	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77412400-77416200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:77412400-77418400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:77412800-77418600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:77413000-77415600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:77413000-77417400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:77414000-77417400	Weak transcription	HMEC	breast
7	chr6:77414200-77415600	Weak transcription	NHEK	skin
8	chr6:77415600-77416000	Enhancers	NHEK	skin
9	chr6:77415600-77416400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:77416000-77417200	Weak transcription	NHEK	skin
11	chr6:77416200-77417000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:77416400-77416800	Enhancers	Fetal Heart	heart
13	chr6:77416400-77416800	Enhancers	Fetal Lung	lung
14	chr6:77416400-77417400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:77416800-77417200	Flanking Active TSS	Fetal Heart	heart
16	chr6:77417200-77417600	Enhancers	HUVEC	blood vessel
17	chr6:77417200-77418000	Enhancers	Fetal Heart	heart
18	chr6:77417400-77417600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:77417400-77417600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:77417400-77417600	Enhancers	Ovary	ovary
21	chr6:77417400-77417600	Enhancers	HMEC	breast
22	chr6:77417400-77417600	Enhancers	NHEK	skin
23	chr6:77418400-77419000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:77418600-77418800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:77418600-77419600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:77425600-77433000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:77434400-77434600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:77436200-77437000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:77439200-77441000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr6:77441000-77452800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:77443200-77443600	Active TSS	Aorta	Aorta
32	chr6:77452400-77470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:77452800-77454400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr6:77454400-77456400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr6:77462400-77463000	Weak transcription	Aorta	Aorta
36	chr6:77463000-77463600	ZNF genes & repeats	Aorta	Aorta
37	chr6:77463400-77463800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:77470200-77470600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:77470600-77484600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:77474800-77478200	Weak transcription	Left Ventricle	heart
41	chr6:77477200-77477600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:77477600-77478000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:77478000-77481400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr6:77478200-77479200	Enhancers	Left Ventricle	heart
45	chr6:77478200-77479200	Enhancers	Ovary	ovary
46	chr6:77478200-77479600	Enhancers	Stomach Mucosa	stomach
47	chr6:77478400-77479200	Enhancers	Placenta	Placenta
48	chr6:77478400-77479200	Enhancers	Right Ventricle	heart
49	chr6:77478400-77479200	Enhancers	Spleen	Spleen
50	chr6:77478400-77479800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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