Variant report

Variant	nsv523127
Chromosome Location	chr6:134554338-134557389
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	ATF1	chr6:134557149-134557476	K562	blood:	n/a	n/a
2	ATF2	chr6:134556974-134557702	GM12878	blood:	n/a	n/a
3	ATF2	chr6:134556934-134557658	GM12878	blood:	n/a	n/a
4	ATF3	chr6:134557100-134557443	K562	blood:	n/a	n/a
5	BATF	chr6:134557227-134557510	GM12878	blood:	n/a	chr6:134557370-134557380 chr6:134557369-134557380
6	BATF	chr6:134557102-134557605	GM12878	blood:	n/a	chr6:134557370-134557380 chr6:134557369-134557380
7	BCL11A	chr6:134557052-134557618	GM12878	blood:	n/a	chr6:134557408-134557417 chr6:134557119-134557128 chr6:134557369-134557378
8	BCL3	chr6:134557088-134557576	GM12878	blood:	n/a	chr6:134557408-134557417 chr6:134557119-134557128 chr6:134557369-134557378
9	BCLAF1	chr6:134556901-134557695	GM12878	blood:	n/a	chr6:134557408-134557417 chr6:134557119-134557128 chr6:134557369-134557378
10	BHLHE40	chr6:134556983-134557701	K562	blood:	n/a	n/a
11	BHLHE40	chr6:134556946-134557773	GM12878	blood:	n/a	n/a
12	BHLHE40	chr6:134556243-134556438	GM12878	blood:	n/a	n/a
13	CCNT2	chr6:134557244-134557514	K562	blood:	n/a	n/a
14	CEBPB	chr6:134556916-134557770	GM12878	blood:	n/a	n/a
15	CEBPB	chr6:134555864-134556031	K562	blood:	n/a	n/a
16	CEBPB	chr6:134554334-134554862	HepG2	liver:	n/a	chr6:134554492-134554505 chr6:134554444-134554455
17	CEBPB	chr6:134554373-134554640	K562	blood:	n/a	chr6:134554492-134554505 chr6:134554444-134554455
18	CEBPB	chr6:134557164-134557458	GM12878	blood:	n/a	n/a
19	CEBPB	chr6:134555889-134556080	K562	blood:	n/a	n/a
20	CEBPB	chr6:134554405-134554613	HepG2	liver:	n/a	chr6:134554492-134554505 chr6:134554444-134554455
21	CHD2	chr6:134557168-134557594	GM12878	blood:	n/a	n/a
22	CREB1	chr6:134557059-134557712	GM12878	blood:	n/a	n/a
23	CREB1	chr6:134557045-134557570	GM12878	blood:	n/a	n/a
24	CUX1	chr6:134557054-134557599	GM12878	blood:	n/a	n/a
25	E2F4	chr6:134557150-134557443	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr6:134556150-134556319	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F6	chr6:134557008-134557272	K562	blood:	n/a	n/a
28	EBF1	chr6:134557099-134557544	GM12878	blood:	n/a	n/a
29	EBF1	chr6:134557298-134557702	GM12878	blood:	n/a	n/a
30	ELK1	chr6:134557120-134557528	GM12878	blood:	n/a	n/a
31	EP300	chr6:134557030-134557698	GM12878	blood:	n/a	chr6:134557369-134557378 chr6:134557341-134557355
32	EP300	chr6:134557132-134557587	GM12878	blood:	n/a	chr6:134557369-134557378 chr6:134557341-134557355
33	EP300	chr6:134557123-134557635	GM12878	blood:	n/a	chr6:134557369-134557378 chr6:134557341-134557355
34	EP300	chr6:134557132-134557472	K562	blood:	n/a	chr6:134557369-134557378 chr6:134557341-134557355
35	EP300	chr6:134557059-134557513	HepG2	liver:	n/a	chr6:134557369-134557378 chr6:134557341-134557355
36	FOS	chr6:134557133-134557544	MCF10A-Er-Src	breast:	n/a	chr6:134557291-134557302 chr6:134557367-134557378 chr6:134557369-134557377 chr6:134557295-134557303 chr6:134557369-134557376 chr6:134557369-134557377
37	FOS	chr6:134557130-134557988	MCF10A-Er-Src	breast:	n/a	chr6:134557291-134557302 chr6:134557367-134557378 chr6:134557369-134557377 chr6:134557295-134557303 chr6:134557369-134557376 chr6:134557369-134557377
38	FOS	chr6:134557130-134558005	MCF10A-Er-Src	breast:	n/a	chr6:134557291-134557302 chr6:134557367-134557378 chr6:134557369-134557377 chr6:134557295-134557303 chr6:134557369-134557376 chr6:134557369-134557377
39	FOS	chr6:134557087-134557549	HUVEC	blood vessel:	n/a	chr6:134557291-134557302 chr6:134557367-134557378 chr6:134557369-134557377 chr6:134557295-134557303 chr6:134557369-134557376 chr6:134557369-134557377
40	FOS	chr6:134557105-134557860	MCF10A-Er-Src	breast:	n/a	chr6:134557291-134557302 chr6:134557367-134557378 chr6:134557369-134557377 chr6:134557295-134557303 chr6:134557369-134557376 chr6:134557369-134557377
41	FOSL1	chr6:134557182-134557562	HCT-116	colon:	n/a	chr6:134557291-134557302 chr6:134557369-134557377 chr6:134557295-134557303 chr6:134557369-134557376 chr6:134557369-134557377
42	FOSL2	chr6:134557182-134557564	HepG2	liver:	n/a	chr6:134557366-134557377 chr6:134557291-134557302 chr6:134557369-134557377 chr6:134557295-134557303 chr6:134557369-134557376 chr6:134557369-134557377
43	FOSL2	chr6:134557025-134557602	SK-N-SH	brain:	n/a	chr6:134557366-134557377 chr6:134557291-134557302 chr6:134557369-134557377 chr6:134557295-134557303 chr6:134557369-134557376 chr6:134557369-134557377
44	FOSL2	chr6:134557057-134557510	A549	lung:	n/a	chr6:134557366-134557377 chr6:134557291-134557302 chr6:134557369-134557377 chr6:134557295-134557303 chr6:134557369-134557376 chr6:134557369-134557377
45	FOSL2	chr6:134557162-134557573	HepG2	liver:	n/a	chr6:134557366-134557377 chr6:134557291-134557302 chr6:134557369-134557377 chr6:134557295-134557303 chr6:134557369-134557376 chr6:134557369-134557377
46	FOXM1	chr6:134556920-134557680	GM12878	blood:	n/a	n/a
47	FOXM1	chr6:134556986-134557674	GM12878	blood:	n/a	n/a
48	IRF4	chr6:134557218-134557581	GM12878	blood:	n/a	n/a
49	JUN	chr6:134557114-134557547	K562	blood:	n/a	chr6:134557291-134557302 chr6:134557369-134557377 chr6:134557295-134557303 chr6:134557369-134557376 chr6:134557369-134557377
50	JUN	chr6:134557105-134557522	HUVEC	blood vessel:	n/a	chr6:134557291-134557302 chr6:134557369-134557377 chr6:134557295-134557303 chr6:134557369-134557376 chr6:134557369-134557377

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:134553108..134554693-chr6:134556354..134559341,2	MCF-7	breast:
2	chr6:134553108..134554693-chr6:134556354..134559341,2	MCF-7	breast:

Variant related genes	Relation type
SGK1	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1763509	chr6:134554338-134554339	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561541557	chr6:134554361-134554362	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs187235695	chr6:134554367-134554368	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs374387952	chr6:134554402-134554403	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs560017670	chr6:134554444-134554445	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs548649608	chr6:134554528-134554529	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs576769597	chr6:134554560-134554561	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs545776281	chr6:134554563-134554564	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs190459986	chr6:134554568-134554569	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs80271331	chr6:134554573-134554574	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs142265973	chr6:134554689-134554690	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs541927227	chr6:134554725-134554726	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs561741626	chr6:134554738-134554739	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs527893884	chr6:134554749-134554750	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs145848812	chr6:134554761-134554762	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs115571915	chr6:134554785-134554786	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs79413326	chr6:134554846-134554847	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs372228117	chr6:134554916-134554917	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550183717	chr6:134554923-134554924	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72972290	chr6:134554981-134554982	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535447237	chr6:134554993-134554994	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547742505	chr6:134555078-134555079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565788685	chr6:134555087-134555088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17063535	chr6:134555114-134555115	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552680440	chr6:134555128-134555129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181724844	chr6:134555176-134555177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576606827	chr6:134555187-134555188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546114109	chr6:134555188-134555189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567733161	chr6:134555213-134555214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532032368	chr6:134555219-134555220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556153722	chr6:134555304-134555305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs137887449	chr6:134555408-134555409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78948545	chr6:134555411-134555412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150548050	chr6:134555536-134555537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139503734	chr6:134555585-134555586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541122731	chr6:134555652-134555653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56949567	chr6:134555683-134555684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564695252	chr6:134555715-134555716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533344503	chr6:134555727-134555728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186034393	chr6:134555737-134555738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570224522	chr6:134555738-134555739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546932203	chr6:134555771-134555772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9493868	chr6:134555780-134555781	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535732633	chr6:134555798-134555799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548923942	chr6:134555817-134555818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565735545	chr6:134555832-134555833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534821552	chr6:134555833-134555834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556872373	chr6:134555872-134555873	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs9385680	chr6:134555891-134555892	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs368110572	chr6:134555975-134555976	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Autism	22495311	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
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134545800-134554600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:134547800-134557600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:134551000-134564000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:134551400-134558800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:134551400-134559600	Weak transcription	Adipose Nuclei	Adipose
6	chr6:134551400-134560200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:134551600-134554400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:134551600-134561600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:134551800-134554400	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:134551800-134556800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:134551800-134556800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:134551800-134556800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:134551800-134556800	Weak transcription	HUVEC	blood vessel
14	chr6:134552000-134557000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:134552200-134558600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr6:134552400-134556200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:134552400-134556200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:134552400-134557400	Weak transcription	Primary T cells from cord blood	blood
19	chr6:134552400-134557400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:134552600-134556200	Weak transcription	Primary B cells from cord blood	blood
21	chr6:134552600-134556200	Weak transcription	GM12878-XiMat	blood
22	chr6:134553800-134558200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr6:134554200-134554800	Enhancers	Brain Anterior Caudate	brain
24	chr6:134554400-134554600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:134554400-134554800	Enhancers	Brain Substantia Nigra	brain
26	chr6:134554400-134555600	Enhancers	Brain Hippocampus Middle	brain
27	chr6:134554600-134554800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:134554600-134554800	Enhancers	Brain Angular Gyrus	brain
29	chr6:134554600-134555000	Enhancers	Brain Cingulate Gyrus	brain
30	chr6:134554600-134556600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr6:134554800-134555000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:134554800-134557200	Weak transcription	Brain Anterior Caudate	brain
33	chr6:134554800-134559200	Weak transcription	Brain Angular Gyrus	brain
34	chr6:134554800-134559200	Weak transcription	Brain Substantia Nigra	brain
35	chr6:134555000-134556000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:134555000-134557200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr6:134555600-134556200	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:134556000-134556400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:134556200-134556400	Enhancers	Brain Hippocampus Middle	brain
40	chr6:134556200-134557200	Enhancers	GM12878-XiMat	blood
41	chr6:134556200-134557400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr6:134556200-134558000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:134556200-134558000	Enhancers	K562	blood
44	chr6:134556200-134558000	Enhancers	Osteobl	bone
45	chr6:134556200-134558200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:134556200-134558600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:134556200-134558800	Enhancers	Primary B cells from peripheral blood	blood
48	chr6:134556200-134559000	Enhancers	Primary B cells from cord blood	blood
49	chr6:134556400-134557200	Enhancers	Fetal Muscle Leg	muscle
50	chr6:134556400-134557400	Weak transcription	Brain Hippocampus Middle	brain

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