Variant report

Variant	nsv979890
Chromosome Location	chr3:150986756-150990249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr3:150986434-150986924	GM12878	blood:	n/a	n/a
2	ELF1	chr3:150986631-150986906	GM12878	blood:	n/a	n/a
3	MTA3	chr3:150986400-150987005	GM12878	blood:	n/a	n/a
4	NFIC	chr3:150986524-150986994	GM12878	blood:	n/a	n/a
5	NFIC	chr3:150986383-150986914	GM12878	blood:	n/a	n/a
6	RUNX3	chr3:150986401-150987002	GM12878	blood:	n/a	n/a
7	RUNX3	chr3:150986372-150986976	GM12878	blood:	n/a	n/a
8	SPI1	chr3:150989170-150989396	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:11968186..11969834-chr3:150989494..150991515,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AADACL2-6	chr3:150987228-150987917	NONHSAT092721

No data

Variant related genes	Relation type
SETP11	TF binding region
ENSG00000199347	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59501054	chr3:150986771-150986772	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548598001	chr3:150986776-150986777	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs190815293	chr3:150986820-150986821	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs146671952	chr3:150986880-150986881	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs551067613	chr3:150986895-150986896	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547549855	chr3:150986898-150986899	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs183451094	chr3:150986915-150986916	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs140223078	chr3:150986924-150986925	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs115368864	chr3:150986925-150986926	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs145595535	chr3:150986927-150986928	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs535478333	chr3:150986940-150986941	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555349742	chr3:150986979-150986980	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs145081578	chr3:150986980-150986981	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs570386692	chr3:150986998-150986999	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs537862082	chr3:150987005-150987006	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555857638	chr3:150987010-150987011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6787122	chr3:150987015-150987016	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577924954	chr3:150987040-150987041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545972196	chr3:150987054-150987055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143136470	chr3:150987143-150987144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199707513	chr3:150987186-150987187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531585822	chr3:150987188-150987189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532164445	chr3:150987216-150987217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568543132	chr3:150987220-150987221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6762875	chr3:150987230-150987231	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148237598	chr3:150987262-150987263	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs6762976	chr3:150987281-150987282	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs185049311	chr3:150987287-150987288	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs574479386	chr3:150987302-150987303	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs547687710	chr3:150987387-150987388	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs375589636	chr3:150987393-150987394	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs570670668	chr3:150987414-150987415	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs533611939	chr3:150987431-150987432	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs549604707	chr3:150987444-150987445	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs569759139	chr3:150987475-150987476	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs535087524	chr3:150987539-150987540	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs73023035	chr3:150987570-150987571	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147057315	chr3:150987595-150987596	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs376451519	chr3:150987609-150987610	Weak transcription Enhancers Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
40	rs534877470	chr3:150987623-150987624	Weak transcription Enhancers Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
41	rs568266196	chr3:150987654-150987655	Weak transcription Enhancers Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
42	rs567046074	chr3:150987655-150987656	Weak transcription Enhancers Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
43	rs577908921	chr3:150987692-150987693	Weak transcription Enhancers Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
44	rs543630592	chr3:150987772-150987773	Weak transcription Enhancers Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
45	rs190878660	chr3:150987819-150987820	Weak transcription Enhancers Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
46	rs572302826	chr3:150987831-150987832	Weak transcription Enhancers Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
47	rs541979337	chr3:150987845-150987846	Weak transcription Enhancers Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
48	rs199936655	chr3:150987851-150987852	Weak transcription Enhancers Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
49	rs10935831	chr3:150987954-150987955	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182589950	chr3:150987983-150987984	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	21509527	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150974400-150987600	Weak transcription	Aorta	Aorta
2	chr3:150977800-151000000	Weak transcription	Placenta	Placenta
3	chr3:150979400-150987600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:150981400-150986800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:150981600-150986800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:150981800-150994000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:150983000-151011000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:150983600-150987600	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:150983800-150989400	Enhancers	Primary B cells from cord blood	blood
10	chr3:150983800-151000600	Weak transcription	Brain Substantia Nigra	brain
11	chr3:150984000-150986800	Weak transcription	Fetal Thymus	thymus
12	chr3:150984000-150996000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:150984200-150998800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:150984400-151022400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:150984600-150987600	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr3:150984600-150988200	Weak transcription	Fetal Stomach	stomach
17	chr3:150984600-151003600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:150984600-151003600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:150984800-150987000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:150984800-150987600	Weak transcription	Brain Anterior Caudate	brain
21	chr3:150984800-150988200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:150984800-150989000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:150984800-150993800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr3:150985400-150988200	Weak transcription	Fetal Lung	lung
25	chr3:150985600-150986800	Enhancers	Duodenum Mucosa	Duodenum
26	chr3:150985600-150987200	Enhancers	Primary T cells from cord blood	blood
27	chr3:150985600-150987600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr3:150985800-150987000	Enhancers	Dnd41	blood
29	chr3:150985800-150987400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr3:150985800-150987400	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:150986000-150989800	Enhancers	Primary B cells from peripheral blood	blood
32	chr3:150986200-150986800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:150986200-150986800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:150986200-150986800	Enhancers	Thymus	Thymus
35	chr3:150986200-150987000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr3:150986200-150987000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:150986200-150987000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr3:150986200-150987000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:150986200-150987200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr3:150986200-150987800	Enhancers	GM12878-XiMat	blood
41	chr3:150986400-150986800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:150986400-150987000	Enhancers	Primary hematopoietic stem cells	blood
43	chr3:150986400-150987000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr3:150986400-150987000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr3:150986400-150987400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:150986400-150987600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr3:150986600-150986800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:150986600-150987000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr3:150986600-150987000	Weak transcription	Adipose Nuclei	Adipose
50	chr3:150986800-150987200	Enhancers	Fetal Thymus	thymus

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