Variant report

Variant	nsv965203
Chromosome Location	chr3:120441087-120449682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:120445653-120446097	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr3:120444911-120444931	ProgFib	skin:	n/a	n/a
3	CTCF	chr3:120445278-120445336	GM20000	blood:	n/a	n/a
4	FAM48A	chr3:120449345-120449413	GM12878	blood:	n/a	n/a
5	FOXA1	chr3:120445877-120446132	HepG2	liver:	n/a	n/a
6	FOXA1	chr3:120445880-120446179	HepG2	liver:	n/a	n/a
7	MAFK	chr3:120442128-120442308	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:120441495-120441619	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr3:120445438-120445543	MCF-7	breast:	n/a	n/a
10	REST	chr3:120441490-120441625	H1-hESC	embryonic stem cell:	n/a	n/a
11	RXRA	chr3:120441449-120441631	HepG2	liver:	n/a	n/a
12	SP1	chr3:120441466-120441651	HepG2	liver:	n/a	n/a
13	TCF7L2	chr3:120445632-120445930	Hela-S3	cervix:	n/a	n/a
14	WRNIP1	chr3:120447910-120447919	GM12878	blood:	n/a	n/a
15	ZBTB33	chr3:120441470-120441647	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:120447696..120450299-chr3:120461200..120463686,2	MCF-7	breast:
2	chr3:120447002..120449223-chr3:120459526..120461842,3	MCF-7	breast:
3	chr3:120446585..120448263-chr3:120449872..120451397,2	MCF-7	breast:
4	chr11:62607627..62609431-chr3:120445103..120446974,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243257	TF binding region
ENSG00000144840	chromatin interactions
ENSG00000153767	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 344 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111668881	chr3:120441133-120441134	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182583449	chr3:120441142-120441143	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188207844	chr3:120441165-120441166	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536280900	chr3:120441190-120441191	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368844796	chr3:120441218-120441219	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375048358	chr3:120441243-120441244	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114488625	chr3:120441245-120441246	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528902451	chr3:120441254-120441255	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549268572	chr3:120441282-120441283	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572933391	chr3:120441313-120441314	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192961330	chr3:120441337-120441338	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185243207	chr3:120441344-120441345	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575104879	chr3:120441368-120441369	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532143546	chr3:120441382-120441383	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189824723	chr3:120441392-120441393	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574366021	chr3:120441425-120441426	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114204025	chr3:120441462-120441463	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117486452	chr3:120441473-120441474	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192528456	chr3:120441500-120441501	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552402189	chr3:120441557-120441558	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531387470	chr3:120441577-120441578	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562967304	chr3:120441596-120441597	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531964978	chr3:120441633-120441634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548778407	chr3:120441635-120441636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551578703	chr3:120441638-120441639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568805319	chr3:120441641-120441642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534486732	chr3:120441664-120441665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546620939	chr3:120441677-120441678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375577484	chr3:120441695-120441696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201876125	chr3:120441701-120441702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538588100	chr3:120441714-120441715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28539233	chr3:120441775-120441776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201180949	chr3:120441778-120441779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184793783	chr3:120441804-120441805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537676461	chr3:120441825-120441826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562425298	chr3:120441844-120441845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554324923	chr3:120441863-120441864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9829072	chr3:120441892-120441893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534342853	chr3:120441901-120441902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188337461	chr3:120441907-120441908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567275524	chr3:120441908-120441909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536262823	chr3:120441921-120441922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180796322	chr3:120441935-120441936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546151373	chr3:120441938-120441939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186474624	chr3:120441971-120441972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556424828	chr3:120441972-120441973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576703140	chr3:120441999-120442000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548253803	chr3:120442018-120442019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562262664	chr3:120442019-120442020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527840521	chr3:120442049-120442050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120398800-120442200	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:120402800-120456600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:120416400-120460600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:120416800-120460600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:120417600-120456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:120419000-120450800	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:120422200-120446800	Weak transcription	Ovary	ovary
8	chr3:120422400-120444200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:120423000-120460200	Weak transcription	HUVEC	blood vessel
10	chr3:120423600-120447200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:120424400-120446800	Weak transcription	Fetal Intestine Large	intestine
12	chr3:120424600-120450200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr3:120425000-120451200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:120425000-120456600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:120425600-120446600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:120428400-120446800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:120428400-120448000	Weak transcription	Osteobl	bone
18	chr3:120428600-120449200	Weak transcription	Placenta	Placenta
19	chr3:120429200-120456200	Weak transcription	Liver	Liver
20	chr3:120430000-120446600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:120438200-120445800	Weak transcription	A549	lung
22	chr3:120438200-120447600	Weak transcription	GM12878-XiMat	blood
23	chr3:120438400-120446800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:120438400-120447000	Weak transcription	Psoas Muscle	Psoas
25	chr3:120438400-120449600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:120438400-120456200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:120438400-120457600	Weak transcription	Fetal Lung	lung
28	chr3:120438400-120460200	Weak transcription	NHEK	skin
29	chr3:120438400-120460600	Weak transcription	Brain Anterior Caudate	brain
30	chr3:120438400-120460600	Weak transcription	Right Ventricle	heart
31	chr3:120438600-120441200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:120438600-120444800	Weak transcription	Fetal Stomach	stomach
33	chr3:120438600-120446800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:120438600-120446800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:120438600-120448800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:120438600-120449000	Weak transcription	Adipose Nuclei	Adipose
37	chr3:120438600-120449200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:120438600-120449200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:120438600-120449400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr3:120438600-120449400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:120438600-120450200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:120438600-120451600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr3:120438600-120456200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:120438600-120456400	Weak transcription	Left Ventricle	heart
45	chr3:120438600-120456600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:120438600-120457000	Weak transcription	Spleen	Spleen
47	chr3:120438600-120457200	Weak transcription	Pancreas	Pancrea
48	chr3:120438600-120460000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr3:120438600-120460400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr3:120439000-120456400	Weak transcription	Rectal Mucosa Donor 29	rectum

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