Variant report

Variant	nsv970057
Chromosome Location	chr6:121663325-121679145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:230)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:230 , 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	chr6:121675962-121676151	HepG2	liver:	n/a	n/a
2	CEBPB	chr6:121673935-121674556	Hela-S3	cervix:	n/a	chr6:121674510-121674523
3	CTCF	chr6:121677900-121678050	HMF	breast:	n/a	n/a
4	CTCF	chr6:121675980-121676130	AG10803	skin:	n/a	n/a
5	CTCF	chr6:121675980-121676130	BJ	skin:	n/a	n/a
6	CTCF	chr6:121675980-121676130	NHDF-neo	bronchial:	n/a	n/a
7	CTCF	chr6:121676060-121676210	GM12870	blood:	n/a	n/a
8	CTCF	chr6:121675960-121676110	GM12865	blood:	n/a	n/a
9	CTCF	chr6:121675960-121676110	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr6:121677801-121678088	IMR90	lung:	n/a	n/a
11	CTCF	chr6:121677840-121677990	HCFaa	heart:	n/a	n/a
12	CTCF	chr6:121676015-121676155	Medullo	brain:	n/a	n/a
13	CTCF	chr6:121675995-121676139	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:121677960-121678110	HVMF	connective:	n/a	n/a
15	CTCF	chr6:121677880-121678030	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr6:121677880-121678030	Caco-2	colon:	n/a	n/a
17	CTCF	chr6:121677776-121678097	GM12878	blood:	n/a	n/a
18	CTCF	chr6:121675989-121676146	GM12891	blood:	n/a	n/a
19	CTCF	chr6:121677840-121677990	HEK293	kidney:	n/a	n/a
20	CTCF	chr6:121676020-121676170	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr6:121675980-121676130	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr6:121676000-121676141	NHEK	skin:	n/a	n/a
23	CTCF	chr6:121676020-121676170	WI-38	lung:	n/a	n/a
24	CTCF	chr6:121677880-121678030	HRE	kidney:	n/a	n/a
25	CTCF	chr6:121675960-121676110	NHDF-neo	bronchial:	n/a	n/a
26	CTCF	chr6:121676000-121676150	GM12878	blood:	n/a	n/a
27	CTCF	chr6:121675960-121676110	NHEK	skin:	n/a	n/a
28	CTCF	chr6:121677880-121678030	GM06990	blood:	n/a	n/a
29	CTCF	chr6:121675965-121676165	GM12878	blood:	n/a	n/a
30	CTCF	chr6:121675987-121676201	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr6:121677860-121678010	GM12875	blood:	n/a	n/a
32	CTCF	chr6:121676000-121676150	HL-60	blood:	n/a	n/a
33	CTCF	chr6:121676054-121676120	GM10248	blood:	n/a	n/a
34	CTCF	chr6:121677860-121678010	AG04449	skin:	n/a	n/a
35	CTCF	chr6:121677860-121678010	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr6:121677960-121678110	RPTEC	kidney:	n/a	n/a
37	CTCF	chr6:121676100-121676250	HCT-116	colon:	n/a	n/a
38	CTCF	chr6:121676000-121676150	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr6:121676020-121676170	GM12873	blood:	n/a	n/a
40	CTCF	chr6:121676045-121676127	LNCaP	prostate:	n/a	n/a
41	CTCF	chr6:121677905-121678001	GM12878	blood:	n/a	n/a
42	CTCF	chr6:121676020-121676170	AG09319	gingival:	n/a	n/a
43	CTCF	chr6:121676016-121676147	GM12878	blood:	n/a	n/a
44	CTCF	chr6:121676020-121676170	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr6:121676060-121676210	HFF	foreskin:	n/a	n/a
46	CTCF	chr6:121676040-121676190	BE2_C	brain:	n/a	n/a
47	CTCF	chr6:121677831-121678088	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr6:121676040-121676190	AG04450	lung:	n/a	n/a
49	CTCF	chr6:121676000-121676150	AG04450	lung:	n/a	n/a
50	CTCF	chr6:121676040-121676190	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:121653058..121658241-chr6:121659261..121663570,7	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-1286P	TF binding region
ENSG00000146350	chromatin interactions

Extended variants
information (count: 468 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7743124	chr6:121663428-121663429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147748352	chr6:121663467-121663468	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183505859	chr6:121663480-121663481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs74489892	chr6:121663492-121663493	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2186097	chr6:121663499-121663500	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs186687015	chr6:121663546-121663547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146391763	chr6:121663547-121663548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77909784	chr6:121663558-121663559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7747201	chr6:121663575-121663576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs193205821	chr6:121663600-121663601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185538768	chr6:121663606-121663607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532222421	chr6:121663633-121663634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547060801	chr6:121663638-121663639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7747379	chr6:121663710-121663711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368150682	chr6:121663783-121663784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7767523	chr6:121663837-121663838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190800968	chr6:121663869-121663870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566205370	chr6:121663929-121663930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28462240	chr6:121663932-121663933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192874749	chr6:121663968-121663969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145751794	chr6:121663971-121663972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536158614	chr6:121664000-121664001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529599895	chr6:121664020-121664021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9490184	chr6:121664032-121664033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs143129451	chr6:121664036-121664037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569329790	chr6:121664048-121664049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185397110	chr6:121664070-121664071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558461138	chr6:121664105-121664106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572149949	chr6:121664125-121664126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570252771	chr6:121664128-121664129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111568233	chr6:121664154-121664155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201710141	chr6:121664213-121664214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375639820	chr6:121664214-121664215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574450912	chr6:121664233-121664234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558504925	chr6:121664313-121664314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544149406	chr6:121664335-121664336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537778443	chr6:121664380-121664381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532847618	chr6:121664385-121664386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546424667	chr6:121664390-121664391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559672994	chr6:121664403-121664404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528622707	chr6:121664465-121664466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1925225	chr6:121664507-121664508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs188568327	chr6:121664547-121664548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530764548	chr6:121664552-121664553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549671319	chr6:121664561-121664562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552482539	chr6:121664596-121664597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148256979	chr6:121664616-121664617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1925226	chr6:121664695-121664696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558743364	chr6:121664696-121664697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181335380	chr6:121664717-121664718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121661400-121666600	Weak transcription	K562	blood
2	chr6:121666600-121666800	Enhancers	Fetal Intestine Small	intestine
3	chr6:121666600-121667000	Enhancers	K562	blood
4	chr6:121666800-121668400	Weak transcription	Fetal Intestine Small	intestine
5	chr6:121668200-121669000	Enhancers	Fetal Intestine Large	intestine
6	chr6:121668400-121669200	Enhancers	Fetal Intestine Small	intestine
7	chr6:121669200-121670400	Weak transcription	Fetal Intestine Small	intestine
8	chr6:121670600-121670800	Enhancers	Fetal Intestine Small	intestine
9	chr6:121673200-121673800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:121673200-121674000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:121673600-121674000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:121675800-121676200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:121676200-121677000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:121677000-121677200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:121677200-121683400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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