Variant report

Variant	nsv432357
Chromosome Location	chr3:336454-378069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:490)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr3:341729-341996	GM12878	blood:	n/a	n/a
2	BHLHE40	chr3:342270-342502	GM12878	blood:	n/a	n/a
3	CEBPB	chr3:377988-378086	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr3:341448-341614	GM12878	blood:	n/a	n/a
5	CTCF	chr3:360820-360858	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr3:340160-340310	HUVEC	blood vessel:	n/a	n/a
7	CUX1	chr3:341633-342014	GM12878	blood:	n/a	n/a
8	EBF1	chr3:341471-342010	GM12878	blood:	n/a	n/a
9	EP300	chr3:360571-360892	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr3:360589-360901	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr3:342460-342486	GM12878	blood:	n/a	n/a
12	EP300	chr3:376998-377287	SK-N-SH_RA	brain:	n/a	n/a
13	FAM48A	chr3:354937-355056	GM12878	blood:	n/a	n/a
14	GATA2	chr3:339416-339707	SH-SY5Y	brain:	n/a	chr3:339560-339569 chr3:339552-339562
15	GATA3	chr3:339479-339764	SH-SY5Y	brain:	n/a	chr3:339560-339569 chr3:339552-339562
16	IKZF1	chr3:341522-341997	GM12878	blood:	n/a	n/a
17	IRF1	chr3:354699-354829	K562	blood:	n/a	n/a
18	IRF1	chr3:371993-372007	K562	blood:	n/a	n/a
19	JUN	chr3:358733-359051	HepG2	liver:	n/a	chr3:358882-358891 chr3:358878-358891
20	JUND	chr3:358719-359065	HepG2	liver:	n/a	chr3:358882-358891 chr3:358851-358862
21	MAFF	chr3:367223-367524	HepG2	liver:	n/a	chr3:367357-367375
22	MAFF	chr3:367279-367485	K562	blood:	n/a	chr3:367357-367375
23	MAFK	chr3:367204-367516	HepG2	liver:	n/a	chr3:367359-367374
24	MAFK	chr3:367191-367549	HepG2	liver:	n/a	chr3:367359-367374
25	MAFK	chr3:367193-367554	IMR90	lung:	n/a	chr3:367359-367374
26	MAFK	chr3:367282-367482	H1-hESC	embryonic stem cell:	n/a	chr3:367359-367374
27	MAFK	chr3:367250-367564	K562	blood:	n/a	chr3:367359-367374
28	MYC	chr3:350661-350733	MCF-7	breast:	n/a	n/a
29	MYC	chr3:343565-343593	MCF-7	breast:	n/a	n/a
30	MYC	chr3:350838-350952	MCF-7	breast:	n/a	n/a
31	NFYA	chr3:351276-351378	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr3:348776-349320	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr3:350393-350536	MCF-7	breast:	n/a	n/a
34	POLR2A	chr3:353789-354337	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr3:350711-350942	MCF-7	breast:	n/a	n/a
36	POLR2A	chr3:350689-350694	MCF-7	breast:	n/a	n/a
37	POLR2A	chr3:348800-349381	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr3:353827-354337	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr3:365910-366040	GM12878	blood:	n/a	n/a
40	POLR2A	chr3:377490-377521	GM12878	blood:	n/a	n/a
41	POLR2A	chr3:350699-350953	MCF-7	breast:	n/a	n/a
42	POLR2A	chr3:367135-367326	MCF10A-Er-Src	breast:	n/a	n/a
43	REST	chr3:348838-349362	H1-neurons	neurons:	n/a	n/a
44	REST	chr3:353696-354497	H1-neurons	neurons:	n/a	n/a
45	REST	chr3:337323-337624	PFSK-1	brain:	n/a	n/a
46	RFX5	chr3:371145-371169	K562	blood:	n/a	n/a
47	RFX5	chr3:361455-361464	K562	blood:	n/a	n/a
48	STAT3	chr3:354742-354875	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr3:369669-369759	MCF10A-Er-Src	breast:	n/a	n/a
50	TCF7L2	chr3:353797-354340	HEK293	kidney:	n/a	chr3:353925-353934 chr3:353921-353937 chr3:353925-353935 chr3:353924-353933 chr3:353921-353937 chr3:353922-353936

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:351003-351053	MCF-7	breast:	n/a
2	chr3:350789-350839	HRCEpiC	kidney:	n/a
3	chr3:351003-351053	MCF-7	breast:	n/a
4	chr3:350789-350839	HRCEpiC	kidney:	n/a
5	chr3:350682-350732	HEEpiC	esophagus:	n/a
6	chr3:347869-347919	AG09309	skin:	n/a
7	chr3:351003-351053	A549	lung:	n/a
8	chr3:350682-350732	HUVEC	blood vessel:	n/a
9	chr3:350892-350942	GM12878	blood:	n/a
10	chr3:347869-347919	Hela-S3	cervix:	n/a
11	chr3:350892-350942	AG04450	lung:	fetal
12	chr3:351003-351053	SKMC	muscle:	n/a
13	chr3:350682-350732	AG10803	skin:	n/a
14	chr3:350503-350553	HUVEC	blood vessel:	n/a
15	chr3:350789-350839	IMR90	lung:	fetal
16	chr3:351003-351053	HEK293	kidney:	embryo
17	chr3:350892-350942	MCF-7	breast:	n/a
18	chr3:350789-350839	U87	brain:	n/a
19	chr3:350503-350553	ovcar-3	ovarian:	n/a
20	chr3:353166-353216	BJ	skin:	n/a
21	chr3:350892-350942	AoSMC	blood vessel:	n/a
22	chr3:353166-353216	HepG2	liver:	n/a
23	chr3:350602-350652	RPTEC	kidney:	n/a
24	chr3:350789-350839	NT2-D1	testis:	n/a
25	chr3:350892-350942	NB4	blood:	n/a
26	chr3:353166-353216	Caco-2	colon:	n/a
27	chr3:350682-350732	GM12892	blood:	n/a
28	chr3:350789-350839	SK-N-MC	brain:	n/a
29	chr3:350789-350839	HPAEpiC	pulmonary alveolar:	n/a
30	chr3:350682-350732	NB4	blood:	n/a
31	chr3:351003-351053	AG09319	gingival:	n/a
32	chr3:347869-347919	LNCaP	prostate:	n/a
33	chr3:350602-350652	PANC-1	pancreas:	n/a
34	chr3:350503-350553	HepG2	liver:	n/a
35	chr3:351003-351053	GM19239	blood:	n/a
36	chr3:350892-350942	GM19239	blood:	n/a
37	chr3:347869-347919	ECC-1	luminal epithelium:	n/a
38	chr3:350892-350942	SKMC	muscle:	n/a
39	chr3:350503-350553	PFSK-1	brain:	n/a
40	chr3:351003-351053	NT2-D1	testis:	n/a
41	chr3:350789-350839	NB4	blood:	n/a
42	chr3:350789-350839	ProgFib	skin:	n/a
43	chr3:350503-350553	AG04449	skin:	fetal
44	chr3:350892-350942	HCPEpiC	choroid plexus:	n/a
45	chr3:350789-350839	NHDF-neo	bronchial:	n/a
46	chr3:351003-351053	HAEpiC	amniotic membrane:	n/a
47	chr3:350602-350652	HCPEpiC	choroid plexus:	n/a
48	chr3:350682-350732	MCF-7	breast:	n/a
49	chr3:350503-350553	SK-N-MC	brain:	n/a
50	chr3:353166-353216	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:369627..372241-chr3:375088..376630,2	K562	blood:
2	chr3:333238..334968-chr3:337821..339342,2	MCF-7	breast:
3	chr3:321596..323780-chr3:337949..340526,2	MCF-7	breast:
4	chr3:369627..372241-chr3:375088..376630,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL5RA-15	chr3:350397-351005	NONHSAT087564

No data

Variant related genes	Relation type
RPS8P6	TF binding region
CHL1	TF binding region
RPS8P6	CpG island
CHL1	CpG island

Extended variants
information (count: 1897 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1897 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17021268	chr3:336454-336455	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145634948	chr3:336470-336471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564399200	chr3:336472-336473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147330857	chr3:336473-336474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546378214	chr3:336478-336479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376227427	chr3:336509-336510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529104381	chr3:336525-336526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185887124	chr3:336543-336544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370651602	chr3:336561-336562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200323012	chr3:336563-336564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557565497	chr3:336660-336661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539041306	chr3:336731-336732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557782356	chr3:336739-336740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190650948	chr3:336748-336749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs331894	chr3:336766-336767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553560928	chr3:336807-336808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117940984	chr3:336873-336874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542503731	chr3:336876-336877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376128882	chr3:336931-336932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17021336	chr3:336989-336990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555134299	chr3:336995-336996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148766981	chr3:337000-337001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142427888	chr3:337025-337026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151271074	chr3:337050-337051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115901012	chr3:337054-337055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540332693	chr3:337061-337062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561516641	chr3:337090-337091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181858771	chr3:337109-337110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187575894	chr3:337158-337159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562555321	chr3:337175-337176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140476429	chr3:337226-337227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533300444	chr3:337249-337250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551051208	chr3:337264-337265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566467706	chr3:337276-337277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115677410	chr3:337285-337286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs331893	chr3:337310-337311	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190709760	chr3:337397-337398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199712686	chr3:337459-337460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573517934	chr3:337465-337466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557576695	chr3:337480-337481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544976669	chr3:337485-337486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575836747	chr3:337497-337498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541041573	chr3:337504-337505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540134410	chr3:337519-337520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17275415	chr3:337545-337546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573211467	chr3:337554-337555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527329807	chr3:337593-337594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540295879	chr3:337619-337620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17021382	chr3:337630-337631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573844569	chr3:337634-337635	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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:333800-338800	Weak transcription	Primary B cells from cord blood	blood
2	chr3:334000-338200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:335800-337000	Enhancers	NHEK	skin
4	chr3:336200-336800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:336400-337600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr3:336400-337800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:336800-337400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:338200-340600	Enhancers	Primary B cells from peripheral blood	blood
9	chr3:338800-340400	Enhancers	Primary B cells from cord blood	blood
10	chr3:339400-339800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:340600-341000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr3:341000-341200	Enhancers	Primary B cells from peripheral blood	blood
13	chr3:341200-343000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr3:343000-343200	Enhancers	Primary B cells from peripheral blood	blood
15	chr3:343000-343200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:343200-343600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr3:348600-349000	Enhancers	Fetal Brain Female	brain
18	chr3:348800-349200	Enhancers	Fetal Brain Male	brain
19	chr3:349000-350600	Weak transcription	Fetal Brain Female	brain
20	chr3:349200-350400	Weak transcription	Fetal Brain Male	brain
21	chr3:350400-350600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:350400-350800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:350400-351400	Enhancers	Fetal Brain Male	brain
24	chr3:350600-350800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:350600-350800	Enhancers	Esophagus	oesophagus
26	chr3:350600-350800	Bivalent Enhancer	Left Ventricle	heart
27	chr3:350600-350800	Enhancers	Ovary	ovary
28	chr3:350600-350800	Active TSS	Right Atrium	heart
29	chr3:350600-351000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr3:350600-351000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:350600-351000	Active TSS	Brain Anterior Caudate	brain
32	chr3:350600-351000	Active TSS	Brain Cingulate Gyrus	brain
33	chr3:350600-351000	Active TSS	Fetal Brain Female	brain
34	chr3:350600-351000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr3:350600-351000	Enhancers	Pancreas	Pancrea
36	chr3:350600-351400	Enhancers	Primary B cells from peripheral blood	blood
37	chr3:350800-351000	Flanking Active TSS	Right Atrium	heart
38	chr3:350800-357000	Weak transcription	Ovary	ovary
39	chr3:351000-352800	Weak transcription	Right Atrium	heart
40	chr3:351000-354600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr3:351000-354600	Weak transcription	Fetal Brain Female	brain
42	chr3:351000-369800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:351400-353200	Weak transcription	Fetal Brain Male	brain
44	chr3:353200-353400	Enhancers	Fetal Brain Male	brain
45	chr3:353200-353400	Enhancers	Right Atrium	heart
46	chr3:353400-353800	Weak transcription	Fetal Brain Male	brain
47	chr3:353800-355200	Enhancers	Fetal Brain Male	brain
48	chr3:354000-354400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr3:354000-355400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:354200-355400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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