Variant report

Variant	nsv967013
Chromosome Location	chr3:47704199-47705557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr3:47705102-47705263	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:47704918-47705714	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr3:47704657-47705096	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr3:47705255-47705260	K562	blood:	n/a	n/a
5	POLR2A	chr3:47705226-47705523	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr3:47704929-47705724	GM12892	blood:	n/a	n/a
7	POLR2A	chr3:47705376-47705417	MCF-7	breast:	n/a	n/a
8	POLR2A	chr3:47705181-47705219	MCF-7	breast:	n/a	n/a
9	POLR2A	chr3:47704948-47705160	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr3:47705001-47705371	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:47705419-47705435	MCF-7	breast:	n/a	n/a
12	POLR2A	chr3:47705217-47705219	MCF-7	breast:	n/a	n/a
13	POLR2A	chr3:47705439-47705653	HepG2	liver:	n/a	n/a
14	POLR2A	chr3:47704986-47705547	GM12892	blood:	n/a	n/a
15	POLR2A	chr3:47705145-47705414	GM12878	blood:	n/a	n/a
16	POLR2A	chr3:47705131-47705479	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr3:47705182-47705227	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:47705160-47705490	GM12891	blood:	n/a	n/a
19	POLR2A	chr3:47705177-47705415	GM12878	blood:	n/a	n/a
20	POLR2A	chr3:47705039-47705722	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:47705107-47705391	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr3:47705206-47705422	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr3:47705237-47705340	MCF-7	breast:	n/a	n/a
24	POLR2A	chr3:47705345-47705374	MCF-7	breast:	n/a	n/a
25	POLR2A	chr3:47705313-47705339	MCF-7	breast:	n/a	n/a
26	POLR2A	chr3:47704976-47705093	GM12878	blood:	n/a	n/a
27	POLR2A	chr3:47705299-47705494	K562	blood:	n/a	n/a
28	POLR2A	chr3:47705235-47705317	MCF-7	breast:	n/a	n/a
29	POLR2A	chr3:47705027-47705212	MCF-7	breast:	n/a	n/a
30	POLR2A	chr3:47704920-47705553	K562	blood:	n/a	n/a
31	POLR2A	chr3:47705373-47705702	GM12878	blood:	n/a	n/a
32	POLR2A	chr3:47705229-47705231	MCF-7	breast:	n/a	n/a
33	SPI1	chr3:47705421-47705632	GM12878	blood:	n/a	n/a
34	SPI1	chr3:47705364-47705702	HL-60	blood:	n/a	n/a
35	SPI1	chr3:47705379-47705628	GM12891	blood:	n/a	n/a
36	SPI1	chr3:47705353-47705691	HL-60	blood:	n/a	n/a
37	SPI1	chr3:47705448-47705686	GM12891	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000235695	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538879811	chr3:47704204-47704205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553819063	chr3:47704209-47704210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9840859	chr3:47704222-47704223	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138923762	chr3:47704290-47704291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575668404	chr3:47704291-47704292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543689180	chr3:47704300-47704301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141851273	chr3:47704303-47704304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370195840	chr3:47704317-47704318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375613143	chr3:47704327-47704328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184962665	chr3:47704365-47704366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190938021	chr3:47704419-47704420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547635435	chr3:47704425-47704426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559902027	chr3:47704430-47704431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372899056	chr3:47704452-47704453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530111140	chr3:47704470-47704471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183087811	chr3:47704480-47704481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111583923	chr3:47704481-47704482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187383505	chr3:47704544-47704545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191761508	chr3:47704545-47704546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550095751	chr3:47704643-47704644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183606256	chr3:47704683-47704684	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs188100901	chr3:47704688-47704689	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs372853828	chr3:47704703-47704704	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs191684527	chr3:47704808-47704809	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs147101113	chr3:47704813-47704814	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs113670787	chr3:47704968-47704969	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs553638065	chr3:47704999-47705000	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs572225551	chr3:47705027-47705028	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs535951580	chr3:47705065-47705066	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs554679321	chr3:47705075-47705076	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs575631785	chr3:47705077-47705078	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs543056754	chr3:47705086-47705087	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs377094533	chr3:47705090-47705091	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs564549065	chr3:47705110-47705111	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs2140335	chr3:47705115-47705116	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs541733005	chr3:47705142-47705143	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559657866	chr3:47705158-47705159	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530351402	chr3:47705192-47705193	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548370064	chr3:47705241-47705242	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs563818105	chr3:47705243-47705244	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs530915746	chr3:47705266-47705267	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs529550333	chr3:47705270-47705271	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs372615190	chr3:47705271-47705272	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs570860815	chr3:47705277-47705278	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs532276845	chr3:47705278-47705279	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs547706042	chr3:47705308-47705309	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs565717040	chr3:47705322-47705323	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs536495923	chr3:47705353-47705354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs554361452	chr3:47705356-47705357	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs569371892	chr3:47705370-47705371	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47654400-47707600	Weak transcription	Stomach Mucosa	stomach
2	chr3:47655800-47765600	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:47656600-47790800	Strong transcription	Fetal Thymus	thymus
4	chr3:47661400-47711400	Weak transcription	Colonic Mucosa	Colon
5	chr3:47672000-47718600	Weak transcription	Right Ventricle	heart
6	chr3:47673600-47719200	Weak transcription	Small Intestine	intestine
7	chr3:47674200-47705000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:47677200-47707400	Weak transcription	HMEC	breast
9	chr3:47677200-47715400	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:47677200-47720000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:47677400-47711600	Weak transcription	Brain Substantia Nigra	brain
12	chr3:47677800-47704600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr3:47677800-47712000	Weak transcription	Brain Angular Gyrus	brain
14	chr3:47678000-47717800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:47682200-47704200	Strong transcription	Primary B cells from cord blood	blood
16	chr3:47684200-47711800	Weak transcription	Ovary	ovary
17	chr3:47684600-47705200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:47684800-47705200	Weak transcription	Aorta	Aorta
19	chr3:47684800-47718400	Weak transcription	Spleen	Spleen
20	chr3:47688200-47704200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:47688200-47705200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:47688200-47763400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:47688600-47710600	Weak transcription	Adipose Nuclei	Adipose
24	chr3:47688600-47718000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:47689800-47711800	Weak transcription	Left Ventricle	heart
26	chr3:47689800-47714200	Weak transcription	Psoas Muscle	Psoas
27	chr3:47692800-47719200	Weak transcription	Gastric	stomach
28	chr3:47693800-47705000	Weak transcription	Pancreas	Pancrea
29	chr3:47694400-47745800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:47695000-47704400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr3:47695000-47705600	Strong transcription	Liver	Liver
32	chr3:47695000-47713800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr3:47695200-47737200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:47695400-47704200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr3:47697000-47709200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:47697600-47704200	Strong transcription	Hela-S3	cervix
37	chr3:47697800-47704200	Strong transcription	K562	blood
38	chr3:47697800-47706400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr3:47698200-47704200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:47698200-47709200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr3:47698400-47731400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:47698600-47705600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr3:47699000-47705400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:47699000-47712600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr3:47699400-47705000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:47699800-47704200	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr3:47699800-47705400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:47700200-47705200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr3:47700200-47715200	Weak transcription	Fetal Brain Male	brain
50	chr3:47700200-47757000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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