Variant report

Variant	nsv39437
Chromosome Location	chr11:76388349-76396423
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:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75918366..75919493-chr11:76391585..76392458,3	K562	blood:
2	chr11:76378581..76382468-chr11:76384470..76388855,6	K562	blood:
3	chr11:76394417..76396793-chr11:76405351..76408195,2	K562	blood:
4	chr11:76289419..76290667-chr11:76391568..76392518,9	MCF-7	breast:
5	chr11:76262380..76263432-chr11:76391914..76393026,4	MCF-7	breast:
6	chr11:76202482..76203428-chr11:76391378..76392425,4	MCF-7	breast:
7	chr11:76387901..76389837-chr11:76392060..76394666,2	K562	blood:
8	chr11:76309452..76310726-chr11:76391627..76392625,9	MCF-7	breast:
9	chr11:76309253..76310227-chr11:76391621..76392159,2	K562	blood:
10	chr11:76262469..76263152-chr11:76392001..76392517,2	K562	blood:
11	chr11:76380390..76383779-chr11:76386028..76388503,4	K562	blood:
12	chr11:75918371..75919261-chr11:76391667..76392614,4	MCF-7	breast:
13	chr11:76390604..76393512-chr11:76398509..76400952,3	MCF-7	breast:
14	chr11:76321340..76322129-chr11:76391843..76392519,2	MCF-7	breast:
15	chr11:76387901..76389837-chr11:76392060..76394666,2	K562	blood:
16	chr11:76309665..76310190-chr11:76388826..76389418,2	MCF-7	breast:
17	chr11:76393537..76395649-chr11:76397143..76398952,2	K562	blood:
18	chr11:76289446..76290623-chr11:76391607..76392461,4	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC32-4	chr11:76393818-76393844	NR_024042
2	lnc-LRRC32-4	chr11:76391210-76391413	NR_024042

No data

Variant related genes	Relation type
ENSG00000137507	chromatin interactions

Extended variants
information (count: 345 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:345 , 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	rs115799942	chr11:76388370-76388371	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540328611	chr11:76388409-76388410	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376918300	chr11:76388410-76388411	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145259257	chr11:76388439-76388440	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200819170	chr11:76388466-76388467	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561889172	chr11:76388525-76388526	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147636973	chr11:76388537-76388538	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs116830302	chr11:76388543-76388544	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146164095	chr11:76388565-76388566	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs10899251	chr11:76388601-76388602	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs80087102	chr11:76388662-76388663	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569899112	chr11:76388767-76388768	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550958406	chr11:76388781-76388782	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138120344	chr11:76388870-76388871	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571141441	chr11:76388904-76388905	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529086383	chr11:76388963-76388964	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539014749	chr11:76388974-76388975	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149149440	chr11:76388976-76388977	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35537027	chr11:76388992-76388993	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576146423	chr11:76389099-76389100	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535541577	chr11:76389129-76389130	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185030372	chr11:76389151-76389152	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111489512	chr11:76389173-76389174	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569825707	chr11:76389178-76389179	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11236851	chr11:76389251-76389252	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541234783	chr11:76389303-76389304	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs11604475	chr11:76389307-76389308	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs78074978	chr11:76389319-76389320	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs189361852	chr11:76389331-76389332	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs368254385	chr11:76389393-76389394	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs74720861	chr11:76389415-76389416	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs552214095	chr11:76389436-76389437	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562535979	chr11:76389448-76389449	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs947996	chr11:76389479-76389480	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs548255514	chr11:76389514-76389515	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs547480458	chr11:76389518-76389519	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs181654034	chr11:76389534-76389535	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs547972105	chr11:76389551-76389552	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs571015390	chr11:76389552-76389553	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs534853818	chr11:76389563-76389564	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540127806	chr11:76389631-76389632	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs550541686	chr11:76389644-76389645	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs185937330	chr11:76389654-76389655	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs80208731	chr11:76389679-76389680	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs4945105	chr11:76389744-76389745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs572125459	chr11:76389846-76389847	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs534473683	chr11:76389856-76389857	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs557944303	chr11:76389860-76389861	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs537232133	chr11:76389882-76389883	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs148332712	chr11:76389896-76389897	Enhancers Weak transcription Bivalent Enhancer	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
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
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
Ovarian cancer	21240255	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76382400-76388600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:76384400-76391800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:76384400-76412800	Weak transcription	Right Atrium	heart
4	chr11:76385400-76389000	Enhancers	Adipose Nuclei	Adipose
5	chr11:76385400-76390200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:76385400-76391600	Weak transcription	Right Ventricle	heart
7	chr11:76386000-76388800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:76386200-76389600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:76386200-76389600	Enhancers	GM12878-XiMat	blood
10	chr11:76387000-76389400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:76387000-76390600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:76387200-76388400	Enhancers	Primary B cells from cord blood	blood
13	chr11:76387200-76389200	Enhancers	Fetal Thymus	thymus
14	chr11:76387200-76390200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:76387400-76388800	Enhancers	Fetal Stomach	stomach
16	chr11:76387400-76389200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:76387400-76390200	Enhancers	Primary hematopoietic stem cells	blood
18	chr11:76387800-76388400	Enhancers	Fetal Kidney	kidney
19	chr11:76387800-76388400	Enhancers	Pancreas	Pancrea
20	chr11:76387800-76389000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:76387800-76389000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:76387800-76389000	Enhancers	NHDF-Ad	bronchial
23	chr11:76387800-76389200	Enhancers	HSMMtube	muscle
24	chr11:76388000-76389000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:76388000-76389200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:76388000-76389200	Enhancers	Fetal Muscle Leg	muscle
27	chr11:76388200-76388400	Enhancers	Colon Smooth Muscle	Colon
28	chr11:76388200-76388600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr11:76388200-76388600	Enhancers	Fetal Heart	heart
30	chr11:76388200-76388600	Weak transcription	Spleen	Spleen
31	chr11:76388200-76388800	Enhancers	Placenta	Placenta
32	chr11:76388200-76389000	Enhancers	Left Ventricle	heart
33	chr11:76388200-76389000	Enhancers	Rectal Smooth Muscle	rectum
34	chr11:76388200-76389000	Enhancers	NHLF	lung
35	chr11:76388200-76389200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:76388200-76389400	Enhancers	Stomach Smooth Muscle	stomach
37	chr11:76388200-76389800	Enhancers	Duodenum Mucosa	Duodenum
38	chr11:76388200-76390000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr11:76388400-76388800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:76388400-76388800	Weak transcription	Primary B cells from cord blood	blood
41	chr11:76388400-76388800	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:76388400-76391600	Weak transcription	Pancreas	Pancrea
43	chr11:76388400-76392200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:76388600-76388800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:76388600-76389000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:76388600-76389200	Enhancers	Spleen	Spleen
47	chr11:76388600-76391600	Weak transcription	Fetal Heart	heart
48	chr11:76388800-76389000	Enhancers	Colon Smooth Muscle	Colon
49	chr11:76388800-76389200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:76388800-76389600	Bivalent Enhancer	Fetal Stomach	stomach

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