Variant report

Variant	nsv972069
Chromosome Location	chr11:107267292-107275251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107265232..107267832-chr11:107267875..107270757,2	K562	blood:
2	chr11:107258832..107260455-chr11:107266741..107268577,2	K562	blood:
3	chr11:107265232..107267832-chr11:107267875..107270757,2	K562	blood:

Extended variants
information (count: 310 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:310 , 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	rs186508356	chr11:107267301-107267302	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552048951	chr11:107267315-107267316	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544623627	chr11:107267343-107267344	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59590014	chr11:107267355-107267356	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs76844404	chr11:107267384-107267385	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35796168	chr11:107267406-107267407	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570304027	chr11:107267428-107267429	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111586264	chr11:107267447-107267448	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189715348	chr11:107267467-107267468	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1863128	chr11:107267496-107267497	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114872309	chr11:107267548-107267549	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548736614	chr11:107267554-107267555	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368182317	chr11:107267558-107267559	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561692076	chr11:107267605-107267606	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117694216	chr11:107267617-107267618	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550583100	chr11:107267621-107267622	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71471735	chr11:107267623-107267624	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386757250	chr11:107267629-107267630	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11212204	chr11:107267630-107267631	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145265149	chr11:107267634-107267635	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147636061	chr11:107267651-107267652	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186201484	chr11:107267663-107267664	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7120609	chr11:107267673-107267674	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533589881	chr11:107267694-107267695	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538123495	chr11:107267705-107267706	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78309721	chr11:107267720-107267721	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183301192	chr11:107267723-107267724	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117836776	chr11:107267732-107267733	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577871867	chr11:107267733-107267734	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533993008	chr11:107267757-107267758	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372648939	chr11:107267764-107267765	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553404660	chr11:107267765-107267766	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377137427	chr11:107267790-107267791	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540063697	chr11:107267799-107267800	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142315239	chr11:107267832-107267833	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2161965	chr11:107267849-107267850	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544149267	chr11:107267911-107267912	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372295377	chr11:107267921-107267922	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188187461	chr11:107267923-107267924	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2883899	chr11:107267958-107267959	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532751721	chr11:107267990-107267991	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78845768	chr11:107268026-107268027	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115794301	chr11:107268053-107268054	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190582953	chr11:107268056-107268057	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549615267	chr11:107268072-107268073	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542192797	chr11:107268119-107268120	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377244414	chr11:107268124-107268125	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567833439	chr11:107268230-107268231	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183105604	chr11:107268236-107268237	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550169578	chr11:107268241-107268242	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	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
Chronic lymphocytic leukemia	21546498	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
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
Cancer	20164919	CNVD

Chromatin state (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107195000-107299200	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:107241600-107327800	Weak transcription	HSMMtube	muscle
3	chr11:107243800-107267600	Weak transcription	Gastric	stomach
4	chr11:107249000-107267600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:107252400-107267800	Weak transcription	Right Ventricle	heart
6	chr11:107252600-107267800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:107252600-107281200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:107252600-107323800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:107255000-107327600	Weak transcription	Fetal Heart	heart
10	chr11:107256600-107298000	Weak transcription	Brain Substantia Nigra	brain
11	chr11:107256600-107327600	Weak transcription	NHDF-Ad	bronchial
12	chr11:107256800-107268200	Weak transcription	A549	lung
13	chr11:107256800-107274800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:107257200-107269600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:107257200-107275000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:107257400-107268000	Weak transcription	HepG2	liver
17	chr11:107257600-107267600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:107257600-107267800	Weak transcription	HMEC	breast
19	chr11:107257800-107268000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:107258600-107281600	Weak transcription	Fetal Brain Male	brain
21	chr11:107258800-107267600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:107258800-107277000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:107258800-107291800	Weak transcription	Colonic Mucosa	Colon
24	chr11:107258800-107324200	Weak transcription	Small Intestine	intestine
25	chr11:107259000-107280400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:107259200-107299600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:107259400-107267400	Weak transcription	Fetal Intestine Small	intestine
28	chr11:107259400-107267400	Weak transcription	Fetal Stomach	stomach
29	chr11:107259400-107268000	Weak transcription	K562	blood
30	chr11:107259600-107323400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:107260000-107267600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:107260000-107267800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr11:107261600-107267600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr11:107261600-107267600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:107261600-107310200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:107261800-107268000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:107262000-107267800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:107262000-107268200	Weak transcription	Lung	lung
39	chr11:107262000-107274200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:107262200-107267600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:107262200-107272200	Weak transcription	Fetal Brain Female	brain
42	chr11:107262200-107274200	Weak transcription	Aorta	Aorta
43	chr11:107262200-107274400	Weak transcription	Esophagus	oesophagus
44	chr11:107262200-107324000	Weak transcription	Pancreas	Pancrea
45	chr11:107262400-107274200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:107262600-107267400	Weak transcription	Spleen	Spleen
47	chr11:107262600-107267800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:107262600-107269600	Weak transcription	Brain Germinal Matrix	brain
49	chr11:107262600-107285400	Weak transcription	Fetal Thymus	thymus
50	chr11:107262800-107267800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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