Variant report

Variant	nsv515484
Chromosome Location	chr11:75854235-75862571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75848740..75850557-chr11:75852011..75854715,2	MCF-7	breast:
2	chr11:75607743..75608566-chr11:75860272..75860889,2	K562	blood:
3	chr11:75858885..75860766-chr11:75865503..75867457,2	K562	blood:
4	chr11:75848459..75850732-chr11:75852231..75854739,2	K562	blood:
5	chr11:75855694..75857259-chr11:75861740..75864650,2	K562	blood:
6	chr11:75857248..75857816-chr11:76029548..76030103,2	K562	blood:
7	chr11:75855694..75857259-chr11:75861740..75864650,2	K562	blood:
8	chr11:75848448..75850623-chr11:75852388..75854293,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255421	chromatin interactions

Extended variants
information (count: 383 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:383 , 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	rs112081812	chr11:75854235-75854236	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs528245281	chr11:75854269-75854270	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368600692	chr11:75854295-75854296	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551294330	chr11:75854303-75854304	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541301872	chr11:75854311-75854312	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs73500021	chr11:75854356-75854357	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550536201	chr11:75854382-75854383	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111406868	chr11:75854389-75854390	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536547762	chr11:75854398-75854399	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188184210	chr11:75854409-75854410	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566833690	chr11:75854459-75854460	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192800799	chr11:75854469-75854470	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558909128	chr11:75854481-75854482	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575671121	chr11:75854483-75854484	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537987404	chr11:75854534-75854535	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543472166	chr11:75854553-75854554	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183759297	chr11:75854557-75854558	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79031851	chr11:75854563-75854564	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553261044	chr11:75854657-75854658	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186641637	chr11:75854674-75854675	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs147368650	chr11:75854701-75854702	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564970064	chr11:75854745-75854746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191430769	chr11:75854756-75854757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544025965	chr11:75854792-75854793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78753443	chr11:75854893-75854894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531936850	chr11:75854898-75854899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79148267	chr11:75854948-75854949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566797138	chr11:75854978-75854979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376639431	chr11:75854987-75854988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532721879	chr11:75854995-75854996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577743713	chr11:75855001-75855002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377674282	chr11:75855008-75855009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552720252	chr11:75855033-75855034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184784584	chr11:75855050-75855051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538333702	chr11:75855058-75855059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17134603	chr11:75855064-75855065	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568575124	chr11:75855101-75855102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534146379	chr11:75855103-75855104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139102740	chr11:75855163-75855164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73500023	chr11:75855180-75855181	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs545017129	chr11:75855187-75855188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530406583	chr11:75855224-75855225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111728584	chr11:75855229-75855230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181759829	chr11:75855246-75855247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575302024	chr11:75855258-75855259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548630904	chr11:75855296-75855297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185276963	chr11:75855346-75855347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189827284	chr11:75855377-75855378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529761573	chr11:75855420-75855421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548906250	chr11:75855421-75855422	Weak transcription Strong transcription	n/a	n/a	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75826000-75862800	Weak transcription	Hela-S3	cervix
2	chr11:75832000-75861200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:75832600-75857600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:75832800-75859400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:75833000-75854400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:75833000-75862800	Weak transcription	K562	blood
7	chr11:75833400-75855000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:75833400-75872800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:75834400-75862800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:75839800-75858000	Weak transcription	Pancreas	Pancrea
11	chr11:75841200-75862800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:75843200-75859400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:75843400-75858000	Weak transcription	Right Atrium	heart
14	chr11:75843600-75862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:75843800-75859800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:75843800-75863000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:75843800-75863000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:75843800-75863000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:75844000-75861200	Weak transcription	NHEK	skin
20	chr11:75844200-75863000	Weak transcription	Brain Angular Gyrus	brain
21	chr11:75844600-75856400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:75846600-75863200	Weak transcription	Fetal Kidney	kidney
23	chr11:75847000-75863400	Weak transcription	Psoas Muscle	Psoas
24	chr11:75849400-75858000	Weak transcription	Fetal Brain Male	brain
25	chr11:75849800-75862800	Weak transcription	Esophagus	oesophagus
26	chr11:75850400-75854600	Strong transcription	Primary B cells from cord blood	blood
27	chr11:75850400-75854800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:75850600-75855000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr11:75851200-75854800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:75851200-75855800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:75851200-75863400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:75851400-75854400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:75851400-75854600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:75851400-75854600	Strong transcription	Liver	Liver
35	chr11:75851400-75854600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:75851400-75854600	Strong transcription	Fetal Intestine Small	intestine
37	chr11:75851400-75854600	Strong transcription	HepG2	liver
38	chr11:75851400-75854800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:75851400-75855000	Strong transcription	GM12878-XiMat	blood
40	chr11:75851600-75854400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:75851600-75854400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr11:75851600-75854400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:75851600-75854400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr11:75851600-75854400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr11:75851600-75854400	Strong transcription	Spleen	Spleen
46	chr11:75851600-75854600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:75851600-75854600	Strong transcription	Fetal Stomach	stomach
48	chr11:75851600-75854600	Strong transcription	Lung	lung
49	chr11:75851600-75854600	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:75851600-75854600	Strong transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links