Variant report

Variant	nsv971962
Chromosome Location	chr11:108339494-108341080
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	SPI1	chr11:108339226-108339534	GM12891	blood:	n/a	chr11:108339408-108339421 chr11:108339409-108339422 chr11:108339410-108339419
2	SPI1	chr11:108339157-108339566	HL-60	blood:	n/a	chr11:108339408-108339421 chr11:108339409-108339422 chr11:108339410-108339419
3	SPI1	chr11:108339224-108339510	GM12891	blood:	n/a	chr11:108339408-108339421 chr11:108339409-108339422 chr11:108339410-108339419

No.	Distal block	Cell Line	Cell type
1	chr11:108333954..108342521-chr11:108361561..108373383,35	K562	blood:
2	chr11:108335947..108339609-chr11:108366598..108369824,4	MCF-7	breast:
3	chr11:108092141..108094808-chr11:108335621..108340680,5	K562	blood:
4	chr11:108092327..108094549-chr11:108338651..108340680,2	K562	blood:
5	chr11:108338406..108340928-chr11:108356755..108359282,2	K562	blood:
6	chr11:108332946..108340923-chr11:108359972..108371658,26	K562	blood:
7	chr11:108339716..108342136-chr11:108463362..108464955,2	K562	blood:
8	chr11:108337740..108339717-chr11:108368118..108370036,2	MCF-7	breast:
9	chr11:108338149..108340861-chr11:108349302..108352849,3	K562	blood:

Variant related genes	Relation type
ENSG00000221607	TF binding region
C11orf65	TF binding region
ENSG00000110723	chromatin interactions
ENSG00000149311	chromatin interactions
ENSG00000178202	chromatin interactions
ENSG00000149308	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533189986	chr11:108339540-108339541	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs551269866	chr11:108339552-108339553	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs566623734	chr11:108339557-108339558	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs533669584	chr11:108339605-108339606	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs555391584	chr11:108339640-108339641	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs75374443	chr11:108339642-108339643	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs7119791	chr11:108339651-108339652	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537441987	chr11:108339715-108339716	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs556488997	chr11:108339762-108339763	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs191671411	chr11:108339774-108339775	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs558302969	chr11:108339781-108339782	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs554087656	chr11:108339799-108339800	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs374021056	chr11:108339800-108339801	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs572571531	chr11:108339807-108339808	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs145269521	chr11:108339817-108339818	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs542763413	chr11:108339829-108339830	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs561424450	chr11:108339839-108339840	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs531784867	chr11:108339891-108339892	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs543817147	chr11:108339904-108339905	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs555294583	chr11:108339941-108339942	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs562803166	chr11:108339948-108339949	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs59737428	chr11:108339954-108339955	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145914932	chr11:108339955-108339956	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs551621971	chr11:108339996-108339997	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs570412440	chr11:108339999-108340000	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs140382557	chr11:108340004-108340005	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs145597250	chr11:108340034-108340035	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs184134105	chr11:108340097-108340098	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs537478921	chr11:108340178-108340179	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs75550163	chr11:108340192-108340193	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs533604407	chr11:108340205-108340206	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs61913892	chr11:108340216-108340217	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs554399183	chr11:108340357-108340358	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs538157852	chr11:108340369-108340370	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs543203090	chr11:108340399-108340400	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs556471400	chr11:108340551-108340552	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs576594135	chr11:108340590-108340591	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs187046996	chr11:108340593-108340594	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs193017410	chr11:108340610-108340611	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs138141058	chr11:108340612-108340613	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs185254394	chr11:108340625-108340626	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs190495183	chr11:108340807-108340808	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs573301136	chr11:108340825-108340826	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs560389522	chr11:108340837-108340838	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11212658	chr11:108340912-108340913	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs34339287	chr11:108340924-108340925	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs182248035	chr11:108340946-108340947	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs35050227	chr11:108340977-108340978	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs549141446	chr11:108341036-108341037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108338200-108343200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:108338200-108345400	Weak transcription	Gastric	stomach
3	chr11:108338200-108345600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:108338200-108345600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:108338200-108346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:108338200-108359000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:108338200-108367600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:108338400-108347600	Weak transcription	Lung	lung
9	chr11:108338400-108352600	Weak transcription	Spleen	Spleen
10	chr11:108338600-108343000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:108338600-108344400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:108338600-108347800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:108338600-108364800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr11:108338600-108367200	Weak transcription	A549	lung
15	chr11:108338600-108367800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:108338800-108343400	Weak transcription	NH-A	brain
17	chr11:108338800-108344000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:108338800-108344200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:108338800-108344200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:108338800-108344200	Weak transcription	HSMM	muscle
21	chr11:108338800-108344600	Weak transcription	Fetal Intestine Large	intestine
22	chr11:108338800-108345000	Weak transcription	Primary T cells from cord blood	blood
23	chr11:108338800-108345400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:108338800-108345400	Weak transcription	Aorta	Aorta
25	chr11:108338800-108345400	Weak transcription	Esophagus	oesophagus
26	chr11:108338800-108345400	Weak transcription	Fetal Stomach	stomach
27	chr11:108338800-108345400	Weak transcription	Ovary	ovary
28	chr11:108338800-108345400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:108338800-108345400	Weak transcription	Thymus	Thymus
30	chr11:108338800-108345600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:108338800-108345600	Weak transcription	Pancreas	Pancrea
32	chr11:108338800-108345800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:108338800-108347200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr11:108338800-108347400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:108338800-108347400	Weak transcription	Fetal Kidney	kidney
36	chr11:108338800-108347400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:108338800-108347600	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:108338800-108347600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:108338800-108347800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:108338800-108347800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:108338800-108347800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:108338800-108347800	Weak transcription	Colonic Mucosa	Colon
43	chr11:108338800-108347800	Weak transcription	Left Ventricle	heart
44	chr11:108338800-108347800	Weak transcription	Right Ventricle	heart
45	chr11:108338800-108348200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:108338800-108349000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:108338800-108352400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:108338800-108354800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:108338800-108356800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr11:108338800-108356800	Weak transcription	H1 Cell Line	embryonic stem cell

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