Variant report

Variant	esv2763596
Chromosome Location	chr6:121774402-121788965
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	ATF2	chr6:121781266-121781712	GM12878	blood:	n/a	n/a
2	BATF	chr6:121781351-121781704	GM12878	blood:	n/a	chr6:121781516-121781527
3	BCLAF1	chr6:121781299-121781674	GM12878	blood:	n/a	n/a
4	BHLHE40	chr6:121781383-121781583	GM12878	blood:	n/a	n/a
5	CEBPB	chr6:121786229-121786470	A549	lung:	n/a	n/a
6	CTCF	chr6:121787326-121787405	Fibrobl	skin:	n/a	n/a
7	E2F4	chr6:121786088-121786288	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr6:121781407-121781578	GM12878	blood:	n/a	n/a
9	EP300	chr6:121781470-121781568	GM12878	blood:	n/a	n/a
10	FOS	chr6:121774311-121775017	HUVEC	blood vessel:	n/a	n/a
11	FOXA1	chr6:121779105-121779433	HepG2	liver:	n/a	chr6:121779270-121779285
12	FOXA2	chr6:121786352-121786664	A549	lung:	n/a	n/a
13	FOXA2	chr6:121777349-121777754	A549	lung:	n/a	n/a
14	MAFF	chr6:121777275-121777413	HepG2	liver:	n/a	chr6:121777327-121777345
15	MAFK	chr6:121777237-121777465	HepG2	liver:	n/a	chr6:121777360-121777375 chr6:121777364-121777378 chr6:121777331-121777345 chr6:121777328-121777344 chr6:121777333-121777344 chr6:121777361-121777381 chr6:121777332-121777343 chr6:121777333-121777344 chr6:121777363-121777379
16	MAFK	chr6:121777296-121777427	HepG2	liver:	n/a	chr6:121777360-121777375 chr6:121777364-121777378 chr6:121777331-121777345 chr6:121777328-121777344 chr6:121777333-121777344 chr6:121777361-121777381 chr6:121777332-121777343 chr6:121777333-121777344 chr6:121777363-121777379
17	MAFK	chr6:121781297-121781397	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAZ	chr6:121778315-121778431	HepG2	liver:	n/a	n/a
19	MEF2A	chr6:121781175-121781722	GM12878	blood:	n/a	chr6:121781550-121781564 chr6:121781473-121781489 chr6:121781473-121781488
20	MEF2A	chr6:121781249-121781810	GM12878	blood:	n/a	chr6:121781550-121781564 chr6:121781473-121781489 chr6:121781473-121781488
21	MEF2C	chr6:121781287-121781790	GM12878	blood:	n/a	chr6:121781550-121781564 chr6:121781548-121781563 chr6:121781473-121781489 chr6:121781473-121781488
22	NFIC	chr6:121781287-121781725	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:121784832-121784977	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr6:121773762-121774922	U87	brain:	n/a	n/a
25	POLR2A	chr6:121786475-121786534	Gliobla	brain:	n/a	n/a
26	POLR2A	chr6:121786017-121786172	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr6:121777363-121777472	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr6:121787318-121787416	Gliobla	brain:	n/a	n/a
29	POLR2A	chr6:121786125-121786277	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr6:121774860-121774874	ProgFib	skin:	n/a	n/a
31	POLR2A	chr6:121775329-121775746	U87	brain:	n/a	n/a
32	POLR2A	chr6:121774622-121774744	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr6:121774875-121775039	ProgFib	skin:	n/a	n/a
34	POLR2A	chr6:121774173-121775009	U87	brain:	n/a	n/a
35	POLR2A	chr6:121774583-121774669	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr6:121773762-121774928	U87	brain:	n/a	n/a
37	POLR2A	chr6:121774505-121774886	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr6:121772828-121774902	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr6:121774141-121775009	U87	brain:	n/a	n/a
40	POLR2A	chr6:121788634-121788673	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr6:121784182-121784227	MCF10A-Er-Src	breast:	n/a	n/a
42	RUNX3	chr6:121781289-121781719	GM12878	blood:	n/a	n/a
43	RUNX3	chr6:121781325-121781739	GM12878	blood:	n/a	n/a
44	RXRA	chr6:121784822-121784999	HepG2	liver:	n/a	n/a
45	STAT3	chr6:121787455-121787737	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT5A	chr6:121781305-121781732	GM12878	blood:	n/a	n/a
47	TBL1XR1	chr6:121781511-121781648	GM12878	blood:	n/a	n/a
48	ZC3H11A	chr6:121784319-121784519	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNU4-35P	TF binding region

Extended variants
information (count: 276 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:276 , 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	rs7753979	chr6:121774402-121774403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187537656	chr6:121774414-121774415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9490265	chr6:121774454-121774455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541915879	chr6:121774539-121774540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555354239	chr6:121774550-121774551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17653428	chr6:121774566-121774567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192344476	chr6:121774616-121774617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148648844	chr6:121774647-121774648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532294878	chr6:121774676-121774677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547177726	chr6:121774699-121774700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546024519	chr6:121774732-121774733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559244282	chr6:121774739-121774740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566081289	chr6:121774803-121774804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182601577	chr6:121774808-121774809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534047255	chr6:121774811-121774812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548279844	chr6:121774812-121774813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188413050	chr6:121774814-121774815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192199086	chr6:121774844-121774845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555669100	chr6:121774857-121774858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567327615	chr6:121774887-121774888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373757180	chr6:121774891-121774892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571171399	chr6:121775026-121775027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9320819	chr6:121775067-121775068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs184570767	chr6:121775072-121775073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566915614	chr6:121775120-121775121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535573227	chr6:121775130-121775131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34178757	chr6:121775180-121775181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544239514	chr6:121775189-121775190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544708769	chr6:121775190-121775191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190201380	chr6:121775208-121775209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545745568	chr6:121775219-121775220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559522436	chr6:121775220-121775221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76589480	chr6:121775232-121775233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542030093	chr6:121775257-121775258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73532248	chr6:121775258-121775259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115219032	chr6:121775270-121775271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550600695	chr6:121775311-121775312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6922883	chr6:121775330-121775331	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533691159	chr6:121775335-121775336	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs546947476	chr6:121775408-121775409	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs567129231	chr6:121775462-121775463	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs369934409	chr6:121775465-121775466	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs553325601	chr6:121775470-121775471	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs549156689	chr6:121775494-121775495	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs569055581	chr6:121775510-121775511	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs537901429	chr6:121775543-121775544	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs558149326	chr6:121775554-121775555	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs142403385	chr6:121775578-121775579	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs534175465	chr6:121775626-121775627	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs192540577	chr6:121775715-121775716	Weak transcription	TF binding region	1 gene(s)	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
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
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	21611746	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121764200-121775200	Weak transcription	Psoas Muscle	Psoas
2	chr6:121769200-121776800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:121769200-121776800	Weak transcription	Esophagus	oesophagus
4	chr6:121769400-121776400	Weak transcription	Aorta	Aorta
5	chr6:121769400-121779000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:121770200-121774800	Weak transcription	Ovary	ovary
7	chr6:121770800-121778800	Weak transcription	A549	lung
8	chr6:121771000-121776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:121771400-121774600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:121771400-121774600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:121771400-121774800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:121771400-121775200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:121771400-121777200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:121771600-121774800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:121772200-121777200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:121772200-121777200	Weak transcription	Osteobl	bone
17	chr6:121773400-121775000	Enhancers	HUVEC	blood vessel
18	chr6:121774000-121775000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:121774600-121774800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:121774600-121775000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:121774800-121775000	Enhancers	Ovary	ovary
22	chr6:121775000-121778400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:121776800-121777000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:121776800-121777000	Enhancers	Esophagus	oesophagus
25	chr6:121776800-121777400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:121777000-121778800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:121777200-121777400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:121777200-121777400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:121777200-121777600	Enhancers	Osteobl	bone
30	chr6:121778400-121779000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:121778800-121779400	Enhancers	A549	lung
32	chr6:121779000-121779200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:121781200-121781800	Enhancers	GM12878-XiMat	blood
34	chr6:121785600-121786400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:121786000-121786200	Enhancers	A549	lung
36	chr6:121786200-121786600	Flanking Active TSS	A549	lung
37	chr6:121786400-121786600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:121786600-121786800	Active TSS	A549	lung

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