Variant report

Variant	nsv1051526
Chromosome Location	chr11:119750335-119775811
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:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:119757931..119760611-chr11:119769070..119771713,2	K562	blood:
2	chr11:119757931..119760611-chr11:119769070..119771713,2	K562	blood:
3	chr11:119772077..119772829-chr11:119780569..119781348,2	MCF-7	breast:
4	chr11:119772072..119774350-chr11:119798374..119800942,2	K562	blood:
5	chr11:119761258..119764589-chr11:119765739..119768852,3	MCF-7	breast:
6	chr11:119674435..119677208-chr11:119764234..119766216,2	K562	blood:
7	chr11:119770243..119773277-chr11:119775684..119777431,3	K562	blood:
8	chr11:119768971..119769563-chr11:119780728..119781328,2	MCF-7	breast:
9	chr11:119755019..119757410-chr11:119762615..119764941,2	K562	blood:
10	chr11:119599158..119601065-chr11:119751497..119754370,2	MCF-7	breast:
11	chr11:119769514..119772014-chr11:119776192..119777837,2	K562	blood:
12	chr11:119770243..119773277-chr11:119775684..119777431,3	K562	blood:
13	chr11:119755019..119757410-chr11:119762615..119764941,2	K562	blood:
14	chr11:119763412..119765183-chr11:119776364..119779168,2	MCF-7	breast:
15	chr11:119761258..119764589-chr11:119765739..119768852,3	MCF-7	breast:
16	chr11:119772201..119772871-chr11:119780550..119781321,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2523D13.1.1-4	chr11:119758324-119758358	XLOC_009301

No data

Variant related genes	Relation type
ENSG00000110400	chromatin interactions
ENSG00000254854	chromatin interactions
DCUN1D5	miRNA target sites

Extended variants
information (count: 989 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:989 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113782199	chr11:119750469-119750470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543876	chr11:119750487-119750488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs571695746	chr11:119750511-119750512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538682782	chr11:119750535-119750536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557345460	chr11:119750547-119750548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575198715	chr11:119750553-119750554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536554336	chr11:119750554-119750555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373651969	chr11:119750579-119750580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189550108	chr11:119750587-119750588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113243733	chr11:119750673-119750674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372030208	chr11:119750716-119750717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540808583	chr11:119750758-119750759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559212208	chr11:119750787-119750788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149962803	chr11:119750799-119750800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114628283	chr11:119750806-119750807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73008690	chr11:119750813-119750814	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs61898982	chr11:119750844-119750845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530470392	chr11:119750850-119750851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542988713	chr11:119750852-119750853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35819596	chr11:119750862-119750863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115649305	chr11:119750936-119750937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528309398	chr11:119750973-119750974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546748711	chr11:119751080-119751081	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs147632298	chr11:119751096-119751097	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs372059613	chr11:119751098-119751099	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs111408911	chr11:119751100-119751101	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs550616236	chr11:119751102-119751103	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs139881445	chr11:119751131-119751132	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs112302185	chr11:119751194-119751195	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs145325462	chr11:119751285-119751286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554879184	chr11:119751334-119751335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116482667	chr11:119751345-119751346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144079373	chr11:119751362-119751363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571745993	chr11:119751374-119751375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547344	chr11:119751375-119751376	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559122987	chr11:119751443-119751444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577327189	chr11:119751469-119751470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545090137	chr11:119751476-119751477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534299086	chr11:119751495-119751496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557087736	chr11:119751525-119751526	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs554495215	chr11:119751555-119751556	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs895649	chr11:119751585-119751586	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs542628799	chr11:119751637-119751638	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs561193201	chr11:119751689-119751690	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs543215329	chr11:119751728-119751729	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs547159770	chr11:119751739-119751740	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs540120681	chr11:119751753-119751754	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs147666719	chr11:119751757-119751758	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs735610	chr11:119751809-119751810	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs532205975	chr11:119751821-119751822	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
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
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	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
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	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
Myelofibrosis	22110671	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
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119739200-119750600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:119746000-119762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:119746400-119750400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:119746800-119750600	Weak transcription	Stomach Mucosa	stomach
5	chr11:119747200-119758600	Weak transcription	Right Ventricle	heart
6	chr11:119747200-119768200	Weak transcription	Fetal Intestine Small	intestine
7	chr11:119747600-119762400	Weak transcription	Esophagus	oesophagus
8	chr11:119748000-119750800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:119748800-119750800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:119749600-119760000	Enhancers	Fetal Heart	heart
11	chr11:119750400-119751400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:119750600-119751200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:119750600-119751400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:119750600-119751800	Enhancers	Stomach Mucosa	stomach
15	chr11:119750800-119751000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr11:119750800-119751200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:119750800-119751200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:119750800-119751800	Enhancers	Gastric	stomach
19	chr11:119750800-119751800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:119751000-119751200	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr11:119751200-119754800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:119751600-119751800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:119751600-119751800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr11:119751800-119756400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:119752000-119756400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:119753200-119753600	Enhancers	Left Ventricle	heart
27	chr11:119753600-119758400	Weak transcription	Left Ventricle	heart
28	chr11:119754600-119755200	Enhancers	Brain Germinal Matrix	brain
29	chr11:119754800-119755200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr11:119754800-119755400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:119755000-119755200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:119755200-119756400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:119755200-119760400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:119756200-119757200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr11:119756400-119757400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:119756400-119757400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr11:119756400-119757800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:119757400-119757800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:119757400-119758000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr11:119757400-119758600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:119757400-119760400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:119757600-119760000	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr11:119757800-119758800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:119758000-119759200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr11:119758200-119758600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:119758400-119758600	Bivalent Enhancer	NHEK	skin
47	chr11:119758400-119759600	Enhancers	Spleen	Spleen
48	chr11:119758400-119760000	Enhancers	Left Ventricle	heart
49	chr11:119758400-119760000	Enhancers	Right Atrium	heart
50	chr11:119758600-119759400	Enhancers	Rectal Mucosa Donor 31	rectum

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