Variant report

Variant	nsv970157
Chromosome Location	chr6:107089574-107090964
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	FOS	chr6:107090420-107090636	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr6:107090394-107090609	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr6:107090962-107091339	MCF10A-Er-Src	breast:	n/a	chr6:107090969-107090981
4	FOS	chr6:107090436-107090636	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr6:107090947-107091362	MCF10A-Er-Src	breast:	n/a	chr6:107090969-107090981
6	FOXA1	chr6:107090302-107090643	A549	lung:	n/a	chr6:107090533-107090548
7	FOXA1	chr6:107090280-107090727	A549	lung:	n/a	chr6:107090533-107090548
8	MYC	chr6:107090896-107091309	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr6:107090371-107090653	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr6:107090431-107090636	MCF10A-Er-Src	breast:	n/a	n/a
11	NR3C1	chr6:107090350-107090679	A549	lung:	n/a	n/a
12	NR3C1	chr6:107090383-107090742	A549	lung:	n/a	n/a
13	NR3C1	chr6:107090264-107090794	A549	lung:	n/a	n/a
14	NR3C1	chr6:107090382-107090683	A549	lung:	n/a	n/a
15	NR3C1	chr6:107090265-107090791	A549	lung:	n/a	n/a
16	NR3C1	chr6:107090320-107090799	A549	lung:	n/a	n/a
17	POLR2A	chr6:107090248-107091358	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr6:107089682-107089766	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr6:107090188-107091256	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr6:107089376-107089583	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr6:107090416-107090616	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr6:107090406-107090614	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr6:107090344-107090630	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr6:107090415-107090635	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RPL21P65	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550838479	chr6:107089579-107089580	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs12214412	chr6:107089584-107089585	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs560641766	chr6:107089609-107089610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536304887	chr6:107089669-107089670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529481935	chr6:107089699-107089700	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs377224740	chr6:107089722-107089723	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs549174080	chr6:107089734-107089735	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs148372993	chr6:107089832-107089833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13200233	chr6:107089840-107089841	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs558078605	chr6:107089845-107089846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577752667	chr6:107089872-107089873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537058125	chr6:107089879-107089880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79403217	chr6:107089919-107089920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573702239	chr6:107089923-107089924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571952071	chr6:107089926-107089927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190863901	chr6:107089929-107089930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559555879	chr6:107089954-107089955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573080865	chr6:107089955-107089956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545343082	chr6:107089968-107089969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565231641	chr6:107089992-107089993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531073574	chr6:107089994-107089995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568470091	chr6:107089995-107089996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561089477	chr6:107090000-107090001	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530244723	chr6:107090012-107090013	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552637727	chr6:107090027-107090028	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547091450	chr6:107090037-107090038	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183537700	chr6:107090074-107090075	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569252580	chr6:107090084-107090085	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9400035	chr6:107090122-107090123	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs140673405	chr6:107090142-107090143	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548693272	chr6:107090143-107090144	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571521174	chr6:107090167-107090168	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71549478	chr6:107090218-107090219	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs536918862	chr6:107090219-107090220	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs112184735	chr6:107090222-107090223	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs9400036	chr6:107090223-107090224	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs536376122	chr6:107090227-107090228	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs386704605	chr6:107090228-107090229	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs9400037	chr6:107090230-107090231	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs112360609	chr6:107090231-107090232	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs558681833	chr6:107090232-107090233	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs553782009	chr6:107090241-107090242	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs373434325	chr6:107090263-107090264	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs575918538	chr6:107090291-107090292	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs544559983	chr6:107090308-107090309	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs186779785	chr6:107090368-107090369	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9400038	chr6:107090369-107090370	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs575631858	chr6:107090372-107090373	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9400039	chr6:107090393-107090394	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs192431297	chr6:107090420-107090421	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	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
Acute lymphoblastic leukemia	17443227	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
Burkitt''s lymphoma	20823134	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
Developmental delay	21147756	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:107078000-107090000	Weak transcription	Aorta	Aorta
2	chr6:107078400-107090400	Weak transcription	HSMMtube	muscle
3	chr6:107078600-107089600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:107078600-107089800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:107078600-107090000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:107078600-107090000	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:107078600-107090000	Weak transcription	Fetal Stomach	stomach
8	chr6:107078600-107090000	Weak transcription	Right Ventricle	heart
9	chr6:107078600-107090200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:107078600-107090200	Weak transcription	Fetal Intestine Large	intestine
11	chr6:107078600-107090200	Weak transcription	Fetal Lung	lung
12	chr6:107078600-107090200	Weak transcription	Ovary	ovary
13	chr6:107078600-107090400	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:107078600-107090400	Weak transcription	Esophagus	oesophagus
15	chr6:107078600-107090400	Weak transcription	Gastric	stomach
16	chr6:107078600-107090400	Weak transcription	HSMM	muscle
17	chr6:107078600-107090600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:107078600-107090600	Weak transcription	Fetal Brain Female	brain
19	chr6:107078600-107092000	Weak transcription	Brain Germinal Matrix	brain
20	chr6:107078600-107092600	Weak transcription	Brain Anterior Caudate	brain
21	chr6:107078600-107093000	Weak transcription	Colonic Mucosa	Colon
22	chr6:107078600-107100200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:107078600-107100400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr6:107078600-107103800	Weak transcription	Fetal Brain Male	brain
25	chr6:107078600-107104200	Weak transcription	Brain Angular Gyrus	brain
26	chr6:107078600-107106200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr6:107078600-107106600	Weak transcription	NH-A	brain
28	chr6:107078600-107110200	Weak transcription	NHLF	lung
29	chr6:107078600-107110800	Weak transcription	Fetal Heart	heart
30	chr6:107078600-107115200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:107078600-107125200	Weak transcription	Stomach Mucosa	stomach
32	chr6:107078800-107090200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:107078800-107090400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:107078800-107090600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:107078800-107090600	Weak transcription	Hela-S3	cervix
36	chr6:107078800-107092000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:107078800-107093600	Weak transcription	NHEK	skin
38	chr6:107079400-107091000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:107079400-107092600	Weak transcription	HMEC	breast
40	chr6:107079400-107092800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:107079600-107090600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:107079600-107090800	Weak transcription	Osteobl	bone
43	chr6:107079600-107092400	Weak transcription	Colon Smooth Muscle	Colon
44	chr6:107081000-107092800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr6:107082600-107091800	Weak transcription	Lung	lung
46	chr6:107085000-107091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:107085000-107112800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:107085200-107090000	Weak transcription	Liver	Liver
49	chr6:107085200-107090200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:107085200-107090400	Weak transcription	Fetal Kidney	kidney

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