Variant report

Variant	esv3357144
Chromosome Location	chr11:119610642-119614840
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:119536864..119537801-chr11:119611746..119612718,4	MCF-7	breast:
2	chr11:119611511..119614247-chr11:119631604..119633429,2	MCF-7	breast:
3	chr11:119612432..119615293-chr2:70313000..70315605,2	K562	blood:
4	chr11:119610610..119612359-chr11:119615622..119618521,2	K562	blood:
5	chr11:119537219..119537738-chr11:119611684..119612227,2	K562	blood:
6	chr11:119591659..119592433-chr11:119611738..119612581,2	MCF-7	breast:
7	chr11:119612041..119612599-chr11:119978926..119979560,2	MCF-7	breast:
8	chr11:119610859..119613381-chr11:119617021..119619803,2	K562	blood:
9	chr11:119598556..119602502-chr11:119605282..119610930,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254854	chromatin interactions
ENSG00000110400	chromatin interactions
ENSG00000169564	chromatin interactions
ENSG00000179818	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565954663	chr11:119610652-119610653	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs533329771	chr11:119610680-119610681	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373989257	chr11:119610710-119610711	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs551789415	chr11:119610736-119610737	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs570369108	chr11:119610751-119610752	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs575892328	chr11:119610789-119610790	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537738216	chr11:119610790-119610791	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs372625936	chr11:119610842-119610843	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549627470	chr11:119610861-119610862	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs544303573	chr11:119610878-119610879	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs535562387	chr11:119610978-119610979	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs376418086	chr11:119611011-119611012	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs571952350	chr11:119611037-119611038	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs79834676	chr11:119611062-119611063	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs557457954	chr11:119611114-119611115	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs576330831	chr11:119611192-119611193	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs147375368	chr11:119611197-119611198	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs561580822	chr11:119611209-119611210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149602804	chr11:119611227-119611228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112909684	chr11:119611228-119611229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541148792	chr11:119611317-119611318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559750678	chr11:119611333-119611334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11217440	chr11:119611348-119611349	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186515196	chr11:119611355-119611356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563513168	chr11:119611356-119611357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11217441	chr11:119611360-119611361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs191417112	chr11:119611405-119611406	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs376103738	chr11:119611472-119611473	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs567883754	chr11:119611487-119611488	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs569595233	chr11:119611588-119611589	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs75408090	chr11:119611600-119611601	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs114166920	chr11:119611609-119611610	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs181848864	chr11:119611625-119611626	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs527604339	chr11:119611662-119611663	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs539154968	chr11:119611711-119611712	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs530810394	chr11:119611716-119611717	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs115183388	chr11:119611717-119611718	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs10892446	chr11:119611734-119611735	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536963815	chr11:119611774-119611775	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs555214580	chr11:119611818-119611819	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs186914543	chr11:119611842-119611843	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs191108297	chr11:119611860-119611861	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs183273702	chr11:119611861-119611862	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs78335004	chr11:119611879-119611880	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs374175538	chr11:119611886-119611887	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs545155959	chr11:119611897-119611898	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs139697689	chr11:119611935-119611936	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs567579319	chr11:119612041-119612042	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs549705058	chr11:119612069-119612070	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs561526242	chr11:119612108-119612109	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Breast cancer	17142309	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119601200-119612000	Weak transcription	Esophagus	oesophagus
2	chr11:119601200-119612200	Weak transcription	Right Atrium	heart
3	chr11:119601400-119612200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:119601400-119612200	Weak transcription	HMEC	breast
5	chr11:119601600-119612000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:119601600-119612000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:119601600-119612200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:119601800-119612000	Weak transcription	Spleen	Spleen
9	chr11:119601800-119612200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:119601800-119612200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:119605400-119612200	Enhancers	Fetal Intestine Small	intestine
12	chr11:119607600-119611400	Enhancers	Fetal Intestine Large	intestine
13	chr11:119608200-119611800	Enhancers	Colonic Mucosa	Colon
14	chr11:119609000-119610800	Enhancers	Fetal Kidney	kidney
15	chr11:119609000-119611600	Enhancers	Stomach Mucosa	stomach
16	chr11:119609000-119612000	Weak transcription	Fetal Brain Female	brain
17	chr11:119609200-119612600	Enhancers	Duodenum Mucosa	Duodenum
18	chr11:119609800-119611000	Bivalent Enhancer	HepG2	liver
19	chr11:119609800-119613600	Enhancers	Pancreas	Pancrea
20	chr11:119610000-119611800	Enhancers	Brain Cingulate Gyrus	brain
21	chr11:119610000-119612000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:119610200-119611200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
23	chr11:119610400-119614400	Enhancers	Gastric	stomach
24	chr11:119610600-119610800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:119610600-119611000	Bivalent Enhancer	Fetal Stomach	stomach
26	chr11:119610600-119611600	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr11:119610600-119612400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr11:119610800-119611200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:119611200-119611600	Enhancers	Brain Substantia Nigra	brain
30	chr11:119611200-119612000	Weak transcription	Brain Germinal Matrix	brain
31	chr11:119611200-119612600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr11:119611200-119614400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr11:119611400-119612200	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr11:119611600-119612000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
35	chr11:119611600-119612200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr11:119611600-119612600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:119611600-119612800	Bivalent Enhancer	Brain Substantia Nigra	brain
38	chr11:119611600-119614400	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr11:119611800-119612000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:119611800-119612000	Bivalent Enhancer	Brain Angular Gyrus	brain
41	chr11:119611800-119612000	Enhancers	Brain Hippocampus Middle	brain
42	chr11:119611800-119612000	Bivalent Enhancer	Colonic Mucosa	Colon
43	chr11:119611800-119612000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
44	chr11:119611800-119612000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
45	chr11:119611800-119612200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:119611800-119612200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:119611800-119612200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:119611800-119612200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
49	chr11:119611800-119612200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
50	chr11:119611800-119613200	Bivalent Enhancer	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links