Variant report

Variant	nsv876291
Chromosome Location	chr3:304087-337727
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	ARID3A	chr3:305517-307368	HepG2	liver:	n/a	n/a
2	ATF2	chr3:319964-320748	GM12878	blood:	n/a	n/a
3	ATF2	chr3:331761-332103	GM12878	blood:	n/a	n/a
4	ATF2	chr3:319829-320847	GM12878	blood:	n/a	n/a
5	ATF3	chr3:306304-306760	A549	lung:	n/a	n/a
6	BATF	chr3:319906-320293	GM12878	blood:	n/a	n/a
7	BATF	chr3:319974-320310	GM12878	blood:	n/a	n/a
8	BATF	chr3:320384-320805	GM12878	blood:	n/a	n/a
9	BCL11A	chr3:319942-320280	GM12878	blood:	n/a	chr3:320201-320210 chr3:320061-320069
10	BCL11A	chr3:319927-320341	GM12878	blood:	n/a	chr3:320201-320210 chr3:320061-320069
11	BCL3	chr3:306315-306750	A549	lung:	n/a	n/a
12	BCL3	chr3:320464-320727	GM12878	blood:	n/a	n/a
13	BCL3	chr3:306168-306863	A549	lung:	n/a	chr3:306285-306294 chr3:306282-306291
14	BCLAF1	chr3:320388-320763	GM12878	blood:	n/a	n/a
15	BHLHE40	chr3:319378-320826	GM12878	blood:	n/a	n/a
16	BHLHE40	chr3:306286-306823	HepG2	liver:	n/a	n/a
17	BRCA1	chr3:306367-306903	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr3:306406-306600	HepG2	liver:	n/a	n/a
19	CEBPB	chr3:306266-306559	MCF-7	breast:	n/a	chr3:306309-306322 chr3:306463-306480
20	CEBPB	chr3:306302-306622	MCF-7	breast:	n/a	chr3:306309-306322 chr3:306463-306480
21	CEBPB	chr3:306243-306864	HepG2	liver:	n/a	chr3:306309-306322 chr3:306463-306480
22	CEBPB	chr3:306302-306792	HepG2	liver:	n/a	chr3:306309-306322 chr3:306463-306480
23	CEBPB	chr3:306097-307016	A549	lung:	n/a	chr3:306309-306322 chr3:306463-306480
24	CEBPB	chr3:306282-306969	HepG2	liver:	n/a	chr3:306309-306322 chr3:306463-306480
25	CEBPB	chr3:306177-307012	Hela-S3	cervix:	n/a	chr3:306309-306322 chr3:306463-306480
26	CEBPB	chr3:306278-306814	A549	lung:	n/a	chr3:306309-306322 chr3:306463-306480
27	CEBPB	chr3:306264-306781	A549	lung:	n/a	chr3:306309-306322 chr3:306463-306480
28	CEBPB	chr3:306264-306872	IMR90	lung:	n/a	chr3:306309-306322 chr3:306463-306480
29	CEBPB	chr3:306331-306724	HepG2	liver:	n/a	chr3:306463-306480
30	CEBPB	chr3:320077-320362	HepG2	liver:	n/a	chr3:320218-320229
31	CEBPD	chr3:306328-306607	HepG2	liver:	n/a	n/a
32	CHD2	chr3:319756-320739	GM12878	blood:	n/a	n/a
33	CREB1	chr3:306196-306931	HepG2	liver:	n/a	n/a
34	CREB1	chr3:306373-306822	A549	lung:	n/a	n/a
35	CREB1	chr3:306269-306913	HepG2	liver:	n/a	n/a
36	CUX1	chr3:319594-320940	GM12878	blood:	n/a	n/a
37	E2F4	chr3:306302-306616	MCF10A-Er-Src	breast:	n/a	n/a
38	EBF1	chr3:331685-332343	GM12878	blood:	n/a	n/a
39	EBF1	chr3:312560-312707	GM12878	blood:	n/a	n/a
40	EBF1	chr3:322542-322796	GM12878	blood:	n/a	chr3:322704-322715
41	EBF1	chr3:319068-320868	GM12878	blood:	n/a	chr3:320133-320146 chr3:320135-320144 chr3:320135-320145 chr3:320134-320145
42	EBF1	chr3:319862-320350	GM12878	blood:	n/a	chr3:320133-320146 chr3:320135-320144 chr3:320135-320145 chr3:320134-320145
43	EBF1	chr3:319831-320407	GM12878	blood:	n/a	chr3:320133-320146 chr3:320135-320144 chr3:320135-320145 chr3:320134-320145
44	EBF1	chr3:322153-323052	GM12878	blood:	n/a	chr3:322704-322715
45	EBF1	chr3:320369-320706	GM12878	blood:	n/a	n/a
46	ELF1	chr3:306322-306712	HepG2	liver:	n/a	n/a
47	ELF1	chr3:306305-306781	HepG2	liver:	n/a	n/a
48	ELK1	chr3:325252-325265	GM12878	blood:	n/a	n/a
49	EP300	chr3:306111-307015	A549	lung:	n/a	chr3:306282-306296 chr3:306433-306440
50	EP300	chr3:319946-320279	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:321596..323780-chr3:337949..340526,2	MCF-7	breast:
2	chr3:333238..334968-chr3:337821..339342,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-1194P	TF binding region

Extended variants
information (count: 1728 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1728 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55928363	chr3:304087-304088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs366742	chr3:304107-304108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111757739	chr3:304125-304126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6801122	chr3:304152-304153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6795932	chr3:304162-304163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1276086	chr3:304169-304170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113054844	chr3:304170-304171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199592610	chr3:304197-304198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1276085	chr3:304214-304215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1276084	chr3:304233-304234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111357632	chr3:304260-304261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564038513	chr3:304263-304264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530778102	chr3:304273-304274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71306200	chr3:304278-304279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372044102	chr3:304286-304287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546200218	chr3:304311-304312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373564720	chr3:304340-304341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113779637	chr3:304351-304352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528604888	chr3:304377-304378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79326014	chr3:304388-304389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77961431	chr3:304419-304420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529127488	chr3:304433-304434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6803855	chr3:304511-304512	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs569152165	chr3:304513-304514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539037246	chr3:304520-304521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6796370	chr3:304558-304559	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs143832341	chr3:304590-304591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147256942	chr3:304605-304606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140725144	chr3:304635-304636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564878192	chr3:304643-304644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574670495	chr3:304650-304651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542033182	chr3:304651-304652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557342123	chr3:304663-304664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142644910	chr3:304687-304688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3872667	chr3:304711-304712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531689584	chr3:304783-304784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368036263	chr3:304800-304801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564494165	chr3:304819-304820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528539634	chr3:304822-304823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540706485	chr3:304826-304827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562195471	chr3:304832-304833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17015776	chr3:304845-304846	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs550776205	chr3:304846-304847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376277063	chr3:304857-304858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569011883	chr3:304863-304864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187863675	chr3:304877-304878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551429074	chr3:304896-304897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566128753	chr3:304904-304905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151015934	chr3:304917-304918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80324479	chr3:304923-304924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Colorectal cancer	21297112	CNVD
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
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
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	20685689	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:285400-307400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:286200-315400	Weak transcription	Ovary	ovary
3	chr3:291800-305200	Weak transcription	Brain Germinal Matrix	brain
4	chr3:300000-305200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:300200-304600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:301000-304800	Weak transcription	Fetal Brain Male	brain
7	chr3:302400-306200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:303200-305600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:303200-306000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:303400-304400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:304400-307600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:304600-304800	Enhancers	Fetal Brain Female	brain
13	chr3:304600-307000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:304800-305800	Enhancers	Fetal Brain Male	brain
15	chr3:305000-307800	Enhancers	HepG2	liver
16	chr3:305200-305800	Enhancers	Brain Germinal Matrix	brain
17	chr3:305400-307800	Enhancers	Hela-S3	cervix
18	chr3:305600-305800	Enhancers	HMEC	breast
19	chr3:305600-306000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:305600-307000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:305800-306200	Enhancers	A549	lung
22	chr3:305800-306400	Weak transcription	HMEC	breast
23	chr3:305800-306800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:305800-308400	Weak transcription	Fetal Brain Male	brain
25	chr3:305800-308600	Weak transcription	Brain Germinal Matrix	brain
26	chr3:306000-307400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:306200-306400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr3:306200-306800	Flanking Active TSS	A549	lung
29	chr3:306400-306600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:306400-306800	Enhancers	Brain Substantia Nigra	brain
31	chr3:306400-307000	Enhancers	HMEC	breast
32	chr3:306600-306800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:306600-307000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:306600-307000	Enhancers	NH-A	brain
35	chr3:306800-308400	Enhancers	A549	lung
36	chr3:307000-318200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:308400-308800	Enhancers	Fetal Brain Male	brain
38	chr3:308600-309000	Enhancers	Brain Germinal Matrix	brain
39	chr3:308800-318200	Weak transcription	Fetal Brain Male	brain
40	chr3:309000-312400	Weak transcription	Brain Germinal Matrix	brain
41	chr3:312000-313400	Enhancers	Primary B cells from peripheral blood	blood
42	chr3:312000-313600	Enhancers	Primary B cells from cord blood	blood
43	chr3:313400-314400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr3:313600-314000	Weak transcription	Primary B cells from cord blood	blood
45	chr3:314000-314200	Enhancers	Primary B cells from cord blood	blood
46	chr3:314200-315200	Weak transcription	Primary B cells from cord blood	blood
47	chr3:314400-319600	Enhancers	Primary B cells from peripheral blood	blood
48	chr3:314800-315000	Enhancers	Pancreas	Pancrea
49	chr3:315200-317000	Enhancers	Primary B cells from cord blood	blood
50	chr3:315600-315800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links