Variant report

Variant	nsv981079
Chromosome Location	chr6:114021110-114039103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:114035907-114035918	K562	blood:	n/a	n/a
2	CEBPB	chr6:114035890-114036336	IMR90	lung:	n/a	chr6:114036141-114036150 chr6:114036141-114036150 chr6:114036141-114036150
3	CEBPB	chr6:114036127-114036315	H1-hESC	embryonic stem cell:	n/a	chr6:114036141-114036150 chr6:114036141-114036150 chr6:114036141-114036150
4	CEBPB	chr6:114022788-114023068	IMR90	lung:	n/a	chr6:114022903-114022914
5	CEBPB	chr6:114036042-114036329	A549	lung:	n/a	chr6:114036141-114036150 chr6:114036141-114036150 chr6:114036141-114036150
6	CEBPB	chr6:114032740-114032894	IMR90	lung:	n/a	n/a
7	CEBPB	chr6:114035892-114036437	HepG2	liver:	n/a	chr6:114036141-114036150 chr6:114036141-114036150 chr6:114036141-114036150
8	CEBPB	chr6:114022753-114023082	HepG2	liver:	n/a	chr6:114022903-114022914
9	CTCF	chr6:114028140-114028290	GM12875	blood:	n/a	n/a
10	CTCF	chr6:114031058-114031078	GM20000	blood:	n/a	n/a
11	CTCF	chr6:114021040-114021190	GM12864	blood:	n/a	n/a
12	CTCF	chr6:114035465-114035505	Kidney_OC	kidney:	n/a	n/a
13	FOS	chr6:114027610-114027834	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr6:114027654-114027788	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr6:114027577-114027834	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr6:114026940-114027283	MCF10A-Er-Src	breast:	n/a	chr6:114027061-114027073
17	FOS	chr6:114027629-114027778	MCF10A-Er-Src	breast:	n/a	n/a
18	FOXA2	chr6:114034905-114035095	HepG2	liver:	n/a	n/a
19	FOXP2	chr6:114028458-114028746	SK-N-MC	brain:	n/a	n/a
20	MAFF	chr6:114035278-114035374	HepG2	liver:	n/a	n/a
21	MAFK	chr6:114035173-114035429	HepG2	liver:	n/a	n/a
22	MAFK	chr6:114035181-114035386	HepG2	liver:	n/a	n/a
23	MXI1	chr6:114034891-114034901	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr6:114026989-114027023	NB4	blood:	n/a	n/a
25	MYC	chr6:114027658-114027758	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr6:114031519-114031573	Gliobla	brain:	n/a	n/a
27	POLR2A	chr6:114026600-114026605	Gliobla	brain:	n/a	n/a
28	POLR2A	chr6:114026465-114026610	MCF-7	breast:	n/a	n/a
29	POLR2A	chr6:114028439-114028463	ProgFib	skin:	n/a	n/a
30	RFX5	chr6:114034971-114035018	K562	blood:	n/a	n/a
31	STAT3	chr6:114023689-114023989	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr6:114027129-114027276	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr6:114037570-114037700	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr6:114030676-114031041	MCF10A-Er-Src	breast:	n/a	chr6:114030896-114030904
35	STAT3	chr6:114023605-114023893	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr6:114023475-114023692	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114019629..114022147-chr6:114177840..114180103,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221559	TF binding region
ENSG00000155130	chromatin interactions

Extended variants
information (count: 840 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:840 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554922857	chr6:114021135-114021136	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs545160564	chr6:114021141-114021142	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs560430962	chr6:114021171-114021172	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs149277144	chr6:114021204-114021205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543407765	chr6:114021209-114021210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs143480258	chr6:114021210-114021211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs372840844	chr6:114021213-114021214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112527420	chr6:114021227-114021228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs34977736	chr6:114021248-114021249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544833017	chr6:114021297-114021298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560318501	chr6:114021302-114021303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181551201	chr6:114021308-114021309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs773684	chr6:114021321-114021322	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542617099	chr6:114021387-114021388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112894824	chr6:114021404-114021405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560980865	chr6:114021411-114021412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34966615	chr6:114021423-114021424	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185592227	chr6:114021434-114021435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs188403570	chr6:114021439-114021440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538757565	chr6:114021473-114021474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142539812	chr6:114021478-114021479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566271066	chr6:114021493-114021494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372207845	chr6:114021514-114021515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536397681	chr6:114021537-114021538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs555289385	chr6:114021544-114021545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550401995	chr6:114021554-114021555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368356110	chr6:114021577-114021578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573692582	chr6:114021580-114021581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113990325	chr6:114021609-114021610	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537081403	chr6:114021625-114021626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558507586	chr6:114021629-114021630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs542327262	chr6:114021653-114021654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111761214	chr6:114021690-114021691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559540304	chr6:114021698-114021699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572213177	chr6:114021711-114021712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs192322515	chr6:114021727-114021728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs146044965	chr6:114021774-114021775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs139975649	chr6:114021784-114021785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550069254	chr6:114021785-114021786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564897810	chr6:114021793-114021794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532099735	chr6:114021838-114021839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547481055	chr6:114021848-114021849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184060808	chr6:114021856-114021857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186426032	chr6:114021861-114021862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368846481	chr6:114021917-114021918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141296753	chr6:114021981-114021982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200211475	chr6:114022012-114022013	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533177405	chr6:114022013-114022014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs190748032	chr6:114022017-114022018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182978160	chr6:114022044-114022045	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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
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
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
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	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
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114015800-114023000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr6:114016200-114023000	Weak transcription	Fetal Lung	lung
3	chr6:114016400-114022000	Weak transcription	Stomach Mucosa	stomach
4	chr6:114020000-114021200	Enhancers	HepG2	liver
5	chr6:114021200-114023000	Weak transcription	HepG2	liver
6	chr6:114022000-114022600	Enhancers	Pancreas	Pancrea
7	chr6:114022000-114024000	Enhancers	Stomach Mucosa	stomach
8	chr6:114022600-114023800	Weak transcription	Pancreas	Pancrea
9	chr6:114022800-114023200	Enhancers	Liver	Liver
10	chr6:114023000-114023200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:114023000-114023400	Enhancers	Fetal Lung	lung
12	chr6:114023000-114023400	Enhancers	HepG2	liver
13	chr6:114023000-114024000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr6:114023800-114024200	Enhancers	Pancreas	Pancrea
15	chr6:114024000-114029800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:114028000-114028400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:114028200-114028400	Enhancers	NH-A	brain
18	chr6:114028200-114028600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:114028200-114028600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:114028200-114028600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:114028200-114028600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:114028200-114028600	Enhancers	Esophagus	oesophagus
23	chr6:114028200-114028600	Enhancers	NHDF-Ad	bronchial
24	chr6:114028200-114028800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:114028200-114028800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:114028200-114028800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:114028200-114029000	Enhancers	HSMMtube	muscle
28	chr6:114028400-114029200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr6:114028800-114032200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:114029200-114031400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:114029800-114030200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr6:114029800-114030400	Enhancers	Colonic Mucosa	Colon
33	chr6:114029800-114031200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr6:114030000-114030200	Enhancers	Stomach Mucosa	stomach
35	chr6:114030200-114031400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr6:114030200-114040000	Weak transcription	Stomach Mucosa	stomach
37	chr6:114031000-114031600	Enhancers	Fetal Intestine Large	intestine
38	chr6:114031000-114031800	Enhancers	Fetal Intestine Small	intestine
39	chr6:114031000-114032000	Enhancers	Fetal Brain Male	brain
40	chr6:114031200-114031600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr6:114031400-114031600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:114031400-114031600	Enhancers	HepG2	liver
43	chr6:114031400-114031800	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr6:114031400-114032400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr6:114031600-114032600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr6:114031800-114032400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr6:114032200-114032400	Enhancers	Colonic Mucosa	Colon
48	chr6:114032200-114035200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:114032400-114039600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr6:114032600-114039600	Weak transcription	Rectal Mucosa Donor 31	rectum

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