Variant report

Variant	nsv524651
Chromosome Location	chr11:120941583-120954769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120933457..120936231-chr11:120943886..120945409,2	MCF-7	breast:
2	chr11:120945241..120946795-chr11:120962658..120964345,2	K562	blood:

Extended variants
information (count: 392 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4643089	chr11:120941583-120941584	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373664911	chr11:120941640-120941641	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140633274	chr11:120941779-120941780	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527760079	chr11:120941823-120941824	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544298629	chr11:120941832-120941833	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145683384	chr11:120941850-120941851	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185607699	chr11:120941865-120941866	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190167368	chr11:120941907-120941908	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541292160	chr11:120941921-120941922	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367967907	chr11:120941933-120941934	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183162702	chr11:120941959-120941960	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs118089103	chr11:120941963-120941964	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569719989	chr11:120942027-120942028	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531464846	chr11:120942039-120942040	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188394130	chr11:120942066-120942067	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373593654	chr11:120942125-120942126	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12808496	chr11:120942129-120942130	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568289596	chr11:120942131-120942132	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535620536	chr11:120942134-120942135	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553722217	chr11:120942143-120942144	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12789791	chr11:120942238-120942239	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12791182	chr11:120942239-120942240	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193034012	chr11:120942242-120942243	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12789802	chr11:120942251-120942252	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12791190	chr11:120942252-120942253	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565763738	chr11:120942257-120942258	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12789814	chr11:120942267-120942268	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539540450	chr11:120942293-120942294	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184074008	chr11:120942340-120942341	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187894489	chr11:120942363-120942364	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371546310	chr11:120942365-120942366	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113465788	chr11:120942371-120942372	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544101083	chr11:120942414-120942415	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369300039	chr11:120942515-120942516	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191526230	chr11:120942527-120942528	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138438172	chr11:120942551-120942552	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149197630	chr11:120942594-120942595	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373741083	chr11:120942597-120942598	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112529192	chr11:120942630-120942631	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs143320280	chr11:120942650-120942651	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs148377468	chr11:120942686-120942687	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs530789141	chr11:120942722-120942723	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs555992667	chr11:120942749-120942750	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs183717255	chr11:120942759-120942760	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs12223030	chr11:120942788-120942789	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs372957547	chr11:120942797-120942798	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs186653545	chr11:120942824-120942825	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35392100	chr11:120942881-120942882	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536092747	chr11:120942883-120942884	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76354313	chr11:120942895-120942896	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120896200-120959600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:120900800-120949800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:120905800-120941600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:120909000-120956400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:120910000-120966600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:120911200-120957400	Weak transcription	Thymus	Thymus
7	chr11:120911200-120961200	Weak transcription	Spleen	Spleen
8	chr11:120914000-120948400	Weak transcription	Fetal Heart	heart
9	chr11:120915400-120950200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:120916800-120942400	Weak transcription	Esophagus	oesophagus
11	chr11:120918400-120942600	Weak transcription	Gastric	stomach
12	chr11:120920000-120942000	Weak transcription	Stomach Mucosa	stomach
13	chr11:120920400-120942400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:120924600-120942600	Weak transcription	Pancreas	Pancrea
15	chr11:120924600-120942800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:120925200-120957400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:120925200-120960000	Weak transcription	Right Ventricle	heart
18	chr11:120925200-120962400	Weak transcription	Psoas Muscle	Psoas
19	chr11:120925400-120953400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:120926000-120942200	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:120926000-120949400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:120926000-120956600	Weak transcription	NHLF	lung
23	chr11:120926200-120942000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:120926200-120942200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:120926200-120950200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:120926200-120966200	Weak transcription	NHEK	skin
27	chr11:120926400-120965800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:120927000-120949800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr11:120927400-120941600	Weak transcription	HUVEC	blood vessel
30	chr11:120927600-120956600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:120927600-120956800	Weak transcription	HMEC	breast
32	chr11:120927600-120959400	Weak transcription	Fetal Brain Male	brain
33	chr11:120928400-120957000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:120933200-120957800	Weak transcription	Placenta	Placenta
35	chr11:120933400-120956200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr11:120933600-120942200	Weak transcription	Brain Angular Gyrus	brain
37	chr11:120933600-120959600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:120934200-120957400	Weak transcription	Osteobl	bone
39	chr11:120934600-120950200	Weak transcription	Dnd41	blood
40	chr11:120935400-120941600	Weak transcription	HSMMtube	muscle
41	chr11:120935600-120961000	Weak transcription	NHDF-Ad	bronchial
42	chr11:120936200-120957200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:120936600-120942400	Weak transcription	Ovary	ovary
44	chr11:120936800-120942400	Weak transcription	Fetal Thymus	thymus
45	chr11:120936800-120943400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:120937000-120942000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:120937000-120942200	Weak transcription	HSMM	muscle
48	chr11:120937000-120945400	Weak transcription	NH-A	brain
49	chr11:120937200-120942000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:120937200-120956400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links