Variant report

Variant	nsv825958
Chromosome Location	chr11:66980849-66982759
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	ATF2	chr11:66980656-66981077	GM12878	blood:	n/a	n/a
2	ATF2	chr11:66980605-66981088	GM12878	blood:	n/a	n/a
3	BCL11A	chr11:66980710-66981082	GM12878	blood:	n/a	chr11:66980903-66980912
4	CEBPB	chr11:66982436-66982636	K562	blood:	n/a	chr11:66982539-66982552 chr11:66982541-66982552 chr11:66982541-66982552 chr11:66982539-66982552
5	CHD2	chr11:66980546-66980928	GM12878	blood:	n/a	n/a
6	EBF1	chr11:66980558-66980870	GM12878	blood:	n/a	n/a
7	EP300	chr11:66980668-66981084	GM12878	blood:	n/a	chr11:66980903-66980917
8	EP300	chr11:66980566-66981077	GM12878	blood:	n/a	chr11:66980903-66980917
9	FOXM1	chr11:66980630-66981072	GM12878	blood:	n/a	n/a
10	IRF1	chr11:66982426-66982544	K562	blood:	n/a	n/a
11	IRF4	chr11:66980615-66981086	GM12878	blood:	n/a	n/a
12	IRF4	chr11:66980610-66981078	GM12878	blood:	n/a	n/a
13	MXI1	chr11:66980674-66981065	GM12878	blood:	n/a	n/a
14	NFIC	chr11:66980559-66981112	GM12878	blood:	n/a	n/a
15	NFYB	chr11:66980717-66980958	GM12878	blood:	n/a	chr11:66980829-66980844 chr11:66980833-66980845 chr11:66980829-66980844
16	POLR2A	chr11:66982304-66982344	MCF-7	breast:	n/a	n/a
17	POLR2A	chr11:66981907-66982064	ProgFib	skin:	n/a	n/a
18	REST	chr11:66980779-66981039	Hela-S3	cervix:	n/a	n/a
19	RUNX3	chr11:66980621-66981079	GM12878	blood:	n/a	n/a
20	RUNX3	chr11:66980524-66981064	GM12878	blood:	n/a	n/a
21	SP1	chr11:66981969-66982182	HepG2	liver:	n/a	n/a
22	SPI1	chr11:66980366-66981287	GM12878	blood:	n/a	n/a
23	SPI1	chr11:66980682-66981027	HL-60	blood:	n/a	n/a
24	SPI1	chr11:66980617-66981060	GM12891	blood:	n/a	n/a
25	SPI1	chr11:66980608-66981066	GM12891	blood:	n/a	n/a
26	SPI1	chr11:66980772-66980972	GM12878	blood:	n/a	n/a
27	SPI1	chr11:66980690-66981061	GM12878	blood:	n/a	n/a
28	SPI1	chr11:66980580-66981166	HL-60	blood:	n/a	n/a
29	TBP	chr11:66980710-66981094	GM12878	blood:	n/a	n/a
30	ZNF384	chr11:66980635-66980972	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66978777..66981655-chr11:67007674..67010286,2	MCF-7	breast:

Variant related genes	Relation type
KDM2A	TF binding region
ENSG00000173120	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544703187	chr11:66980895-66980896	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs572123207	chr11:66980896-66980897	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs563378166	chr11:66980950-66980951	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs4930190	chr11:66981016-66981017	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12274592	chr11:66981044-66981045	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs140402984	chr11:66981053-66981054	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs561075196	chr11:66981054-66981055	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs536000020	chr11:66981093-66981094	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs191038243	chr11:66981098-66981099	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571593466	chr11:66981099-66981100	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs539007978	chr11:66981105-66981106	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs550738369	chr11:66981138-66981139	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs554784612	chr11:66981161-66981162	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs3624	chr11:66981178-66981179	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540328575	chr11:66981227-66981228	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs71056186	chr11:66981244-66981245	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs569331151	chr11:66981269-66981270	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs536349239	chr11:66981305-66981306	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs183214857	chr11:66981376-66981377	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369479491	chr11:66981382-66981383	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576354729	chr11:66981387-66981388	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373248818	chr11:66981391-66981392	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs78126391	chr11:66981423-66981424	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534193116	chr11:66981478-66981479	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187463022	chr11:66981507-66981508	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs191788448	chr11:66981533-66981534	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183077317	chr11:66981537-66981538	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577261208	chr11:66981564-66981565	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188161511	chr11:66981581-66981582	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192340923	chr11:66981583-66981584	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs541435585	chr11:66981600-66981601	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575260595	chr11:66981615-66981616	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542761736	chr11:66981630-66981631	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375601261	chr11:66981671-66981672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554911921	chr11:66981678-66981679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58629654	chr11:66981693-66981694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369194367	chr11:66981694-66981695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374232204	chr11:66981695-66981696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376996087	chr11:66981697-66981698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184287976	chr11:66981752-66981753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376428622	chr11:66981795-66981796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186761070	chr11:66981797-66981798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546852011	chr11:66981815-66981816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559552618	chr11:66981820-66981821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530193916	chr11:66981832-66981833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192689267	chr11:66981921-66981922	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs541985517	chr11:66981926-66981927	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs550905447	chr11:66981927-66981928	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs545799963	chr11:66981977-66981978	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs184829791	chr11:66981998-66981999	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Acute myeloid leukemia	20729466	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
Schizophrenia	21346763	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66930800-66985600	Weak transcription	Small Intestine	intestine
2	chr11:66936400-67006200	Weak transcription	Stomach Mucosa	stomach
3	chr11:66942600-66982800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:66945800-66984800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:66948200-66986400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:66951200-66986600	Weak transcription	Fetal Brain Male	brain
7	chr11:66953400-66982800	Weak transcription	Aorta	Aorta
8	chr11:66953400-66982800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:66953800-66982800	Weak transcription	HUVEC	blood vessel
10	chr11:66954000-66984800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:66954600-66993000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:66956400-67005000	Weak transcription	Fetal Heart	heart
13	chr11:66962200-66999000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:66962400-66982800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:66962600-66995000	Weak transcription	Psoas Muscle	Psoas
16	chr11:66964000-66982800	Weak transcription	NHEK	skin
17	chr11:66964400-66989400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:66964600-67002400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:66965200-67006400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:66965400-66982800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:66966400-66989400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:66968200-66982800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:66970400-66988800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:66971400-66989200	Strong transcription	Placenta	Placenta
25	chr11:66972400-66989600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr11:66972600-66987800	Strong transcription	Fetal Stomach	stomach
27	chr11:66972600-66989000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:66972800-66981800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:66972800-66987600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:66972800-66988400	Strong transcription	Fetal Intestine Large	intestine
31	chr11:66972800-67002600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr11:66973000-66989200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:66973000-67005400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:66973400-66988200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:66973600-66982200	Weak transcription	NHDF-Ad	bronchial
36	chr11:66973800-66987800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:66974400-66988000	Strong transcription	HepG2	liver
38	chr11:66974400-66988200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:66974400-66989000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:66974600-66989400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:66974600-66993000	Strong transcription	Dnd41	blood
42	chr11:66974600-66993200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:66974600-66993400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:66974800-66997600	Strong transcription	Fetal Thymus	thymus
45	chr11:66975000-66981400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:66975000-66981400	Strong transcription	Adipose Nuclei	Adipose
47	chr11:66975000-66981600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr11:66975000-66983800	Strong transcription	Left Ventricle	heart
49	chr11:66975000-66989400	Strong transcription	Fetal Muscle Leg	muscle
50	chr11:66975000-66993200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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