Variant report

Variant	nsv972036
Chromosome Location	chr11:59845745-59853677
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	ATF1	chr11:59846322-59846529	K562	blood:	n/a	n/a
2	ATF1	chr11:59853455-59853752	K562	blood:	n/a	n/a
3	BHLHE40	chr11:59853433-59853683	K562	blood:	n/a	n/a
4	CBX3	chr11:59845690-59846028	K562	blood:	n/a	n/a
5	CBX3	chr11:59847993-59848492	K562	blood:	n/a	n/a
6	CCNT2	chr11:59853478-59853769	K562	blood:	n/a	chr11:59853577-59853597
7	CEBPB	chr11:59853381-59853929	K562	blood:	n/a	n/a
8	CEBPB	chr11:59852064-59852355	HepG2	liver:	n/a	n/a
9	CEBPB	chr11:59852045-59852314	K562	blood:	n/a	n/a
10	CEBPB	chr11:59849880-59850038	K562	blood:	n/a	n/a
11	CEBPB	chr11:59853497-59853883	K562	blood:	n/a	n/a
12	CEBPB	chr11:59853496-59853741	K562	blood:	n/a	n/a
13	CEBPD	chr11:59853327-59853826	K562	blood:	n/a	n/a
14	CEBPD	chr11:59853390-59853958	K562	blood:	n/a	n/a
15	CTCF	chr11:59847886-59847936	GM20000	blood:	n/a	n/a
16	EP300	chr11:59853386-59853849	K562	blood:	n/a	n/a
17	FOXA1	chr11:59852058-59852716	T-47D	breast:	n/a	n/a
18	FOXA1	chr11:59852295-59852634	T-47D	breast:	n/a	n/a
19	GATA1	chr11:59853307-59854012	K562	blood:	n/a	chr11:59853580-59853597
20	GATA2	chr11:59853360-59853823	K562	blood:	n/a	chr11:59853580-59853597
21	GATA2	chr11:59846177-59846586	K562	blood:	n/a	n/a
22	GATA3	chr11:59852069-59852676	T-47D	breast:	n/a	n/a
23	GATA3	chr11:59852014-59852936	T-47D	breast:	n/a	n/a
24	IRF1	chr11:59853535-59853836	K562	blood:	n/a	n/a
25	IRF1	chr11:59846302-59846542	K562	blood:	n/a	n/a
26	IRF1	chr11:59853314-59853813	K562	blood:	n/a	n/a
27	JUN	chr11:59853492-59853782	K562	blood:	n/a	n/a
28	JUND	chr11:59853441-59853649	K562	blood:	n/a	n/a
29	KAP1	chr11:59846561-59846729	K562	blood:	n/a	n/a
30	MAFF	chr11:59853539-59853769	K562	blood:	n/a	n/a
31	MAFK	chr11:59850981-59851071	HepG2	liver:	n/a	n/a
32	MAX	chr11:59853379-59853693	K562	blood:	n/a	n/a
33	MAZ	chr11:59853516-59853711	K562	blood:	n/a	n/a
34	MYC	chr11:59853461-59853660	K562	blood:	n/a	n/a
35	MYC	chr11:59853340-59853828	K562	blood:	n/a	n/a
36	NFYA	chr11:59853541-59853741	K562	blood:	n/a	n/a
37	NR2F2	chr11:59853434-59853782	K562	blood:	n/a	n/a
38	PML	chr11:59853403-59853852	K562	blood:	n/a	n/a
39	POLR2A	chr11:59849325-59849342	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:59853543-59853609	K562	blood:	n/a	n/a
41	RCOR1	chr11:59853423-59853753	K562	blood:	n/a	n/a
42	SPI1	chr11:59853412-59853599	HL-60	blood:	n/a	chr11:59853487-59853494 chr11:59853486-59853495
43	SPI1	chr11:59853394-59853609	K562	blood:	n/a	chr11:59853487-59853494 chr11:59853486-59853495
44	SPI1	chr11:59853291-59853721	HL-60	blood:	n/a	chr11:59853487-59853494 chr11:59853486-59853495
45	STAT3	chr11:59847185-59847210	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT5A	chr11:59853406-59853869	K562	blood:	n/a	chr11:59853755-59853767
47	TAL1	chr11:59846230-59846593	K562	blood:	n/a	n/a
48	TAL1	chr11:59853401-59853895	K562	blood:	n/a	chr11:59853578-59853586 chr11:59853579-59853597
49	TAL1	chr11:59852127-59852320	K562	blood:	n/a	n/a
50	TBL1XR1	chr11:59853563-59853740	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:59847145..59850103-chr11:59877853..59879913,2	K562	blood:

Variant related genes	Relation type
MS4A2	TF binding region

Extended variants
information (count: 318 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:318 , 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	rs138153992	chr11:59845800-59845801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568691226	chr11:59845801-59845802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149631635	chr11:59845817-59845818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190200216	chr11:59845821-59845822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568955247	chr11:59845825-59845826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575690990	chr11:59845828-59845829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543695	chr11:59845829-59845830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs144403490	chr11:59845876-59845877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550889767	chr11:59845888-59845889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148805023	chr11:59845914-59845915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540160368	chr11:59845919-59845920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115067373	chr11:59845935-59845936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529062574	chr11:59845952-59845953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181652905	chr11:59845955-59845956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75229144	chr11:59845959-59845960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184622992	chr11:59846004-59846005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7102260	chr11:59846035-59846036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114855406	chr11:59846059-59846060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554081808	chr11:59846072-59846073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560403289	chr11:59846077-59846078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527250127	chr11:59846096-59846097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547331573	chr11:59846117-59846118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189222479	chr11:59846158-59846159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79832628	chr11:59846192-59846193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12362446	chr11:59846233-59846234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569289752	chr11:59846235-59846236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114211879	chr11:59846238-59846239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181923381	chr11:59846274-59846275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557804426	chr11:59846285-59846286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572918522	chr11:59846308-59846309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78247616	chr11:59846325-59846326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185930136	chr11:59846333-59846334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572232822	chr11:59846347-59846348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372796287	chr11:59846350-59846351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113072504	chr11:59846352-59846353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74899468	chr11:59846396-59846397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190800325	chr11:59846401-59846402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367997948	chr11:59846415-59846416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181370195	chr11:59846466-59846467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139865518	chr11:59846484-59846485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549680	chr11:59846494-59846495	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs186517082	chr11:59846498-59846499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549651	chr11:59846504-59846505	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554429054	chr11:59846508-59846509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548997017	chr11:59846573-59846574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190538898	chr11:59846575-59846576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574575634	chr11:59846608-59846609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182923556	chr11:59846611-59846612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540502945	chr11:59846639-59846640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529576272	chr11:59846647-59846648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Lung adenocarcinoma	17086460	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59844000-59847600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:59844800-59846400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr11:59845400-59846000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr11:59845600-59846600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:59845800-59846600	Enhancers	K562	blood
6	chr11:59846400-59847400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:59846600-59847400	Weak transcription	K562	blood
8	chr11:59847400-59847600	Enhancers	K562	blood
9	chr11:59847400-59847600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr11:59847600-59852000	Weak transcription	K562	blood
11	chr11:59851800-59852800	Enhancers	Fetal Brain Male	brain
12	chr11:59852000-59853400	Enhancers	K562	blood
13	chr11:59852200-59852800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:59852600-59853000	Enhancers	Brain Germinal Matrix	brain
15	chr11:59853200-59853600	Enhancers	Brain Germinal Matrix	brain
16	chr11:59853200-59853800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:59853400-59854000	Flanking Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links