Variant report

Variant	nsv972947
Chromosome Location	chr11:46004497-46007589
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45869552..45871506-chr11:46003139..46005373,2	K562	blood:
2	chr11:46000949..46006706-chr11:46011674..46018213,17	K562	blood:
3	chr11:46002933..46004911-chr11:46139730..46142231,2	K562	blood:
4	chr11:45997750..46001916-chr11:46003160..46008009,7	K562	blood:
5	chr11:45990331..45993127-chr11:46002263..46005168,2	K562	blood:
6	chr11:45938159..45940217-chr11:46005267..46008166,2	MCF-7	breast:
7	chr11:45942896..45944721-chr11:46003049..46005001,2	K562	blood:
8	chr11:45987934..45989618-chr11:46004381..46006271,2	K562	blood:
9	chr11:45945921..45947947-chr11:46005632..46007133,2	K562	blood:
10	chr11:45998746..46001549-chr11:46002921..46008009,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135365	chromatin interactions
ENSG00000121680	chromatin interactions
ENSG00000165905	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534008414	chr11:46004543-46004544	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs189530995	chr11:46004555-46004556	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs55789907	chr11:46004589-46004590	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550812408	chr11:46004639-46004640	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs78192606	chr11:46004643-46004644	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545902634	chr11:46004707-46004708	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556772737	chr11:46004755-46004756	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs2959095	chr11:46004763-46004764	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542589753	chr11:46004796-46004797	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs562242801	chr11:46004855-46004856	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs527920714	chr11:46004882-46004883	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540295099	chr11:46004903-46004904	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs560011183	chr11:46004935-46004936	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs192102965	chr11:46004948-46004949	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs532085244	chr11:46004970-46004971	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs140291263	chr11:46005027-46005028	Flanking Active TSS Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150383513	chr11:46005035-46005036	Flanking Active TSS Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138078414	chr11:46005037-46005038	Flanking Active TSS Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201689293	chr11:46005045-46005046	Flanking Active TSS Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs36102025	chr11:46005046-46005047	Flanking Active TSS Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548107887	chr11:46005056-46005057	Flanking Active TSS Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112965882	chr11:46005057-46005058	Flanking Active TSS Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533755426	chr11:46005058-46005059	Flanking Active TSS Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547843629	chr11:46005107-46005108	Flanking Active TSS Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570862219	chr11:46005116-46005117	Flanking Active TSS Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs143434210	chr11:46005173-46005174	Flanking Active TSS Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199945884	chr11:46005195-46005196	Flanking Active TSS Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556278398	chr11:46005227-46005228	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576530724	chr11:46005251-46005252	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536137792	chr11:46005269-46005270	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183277474	chr11:46005505-46005506	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566937128	chr11:46005518-46005519	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562937263	chr11:46005522-46005523	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188640768	chr11:46005610-46005611	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs375664047	chr11:46005741-46005742	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs193177827	chr11:46005751-46005752	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs567500533	chr11:46005762-46005763	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs534406339	chr11:46005780-46005781	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs61882503	chr11:46005804-46005805	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545930954	chr11:46005810-46005811	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs1401421	chr11:46005829-46005830	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577874192	chr11:46005839-46005840	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs531241855	chr11:46005855-46005856	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs537246471	chr11:46005931-46005932	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs183558667	chr11:46005934-46005935	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs373430160	chr11:46005935-46005936	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs527439912	chr11:46005943-46005944	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs141426845	chr11:46006008-46006009	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs376740465	chr11:46006025-46006026	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs547286655	chr11:46006026-46006027	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45967600-46004600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:45987600-46004600	Weak transcription	Gastric	stomach
3	chr11:45992800-46004600	Weak transcription	Fetal Kidney	kidney
4	chr11:45993000-46004600	Weak transcription	Esophagus	oesophagus
5	chr11:45993000-46004600	Weak transcription	Spleen	Spleen
6	chr11:45993000-46015000	Weak transcription	Psoas Muscle	Psoas
7	chr11:45993000-46017600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:45993600-46004600	Weak transcription	Small Intestine	intestine
9	chr11:46000200-46004600	Weak transcription	HepG2	liver
10	chr11:46000400-46013000	Weak transcription	Fetal Intestine Large	intestine
11	chr11:46000600-46010400	Weak transcription	Hela-S3	cervix
12	chr11:46000800-46006200	Enhancers	Fetal Heart	heart
13	chr11:46000800-46010200	Weak transcription	Liver	Liver
14	chr11:46000800-46012400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:46001000-46015400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:46001200-46004800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:46001400-46004600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr11:46001400-46004600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:46001400-46004600	Weak transcription	Fetal Intestine Small	intestine
20	chr11:46001400-46013200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:46001400-46013600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:46001400-46015200	Weak transcription	Pancreas	Pancrea
23	chr11:46001400-46016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:46001400-46070400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:46001600-46004600	Weak transcription	Placenta	Placenta
26	chr11:46001600-46004600	Weak transcription	Lung	lung
27	chr11:46001600-46005000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:46001600-46006800	Weak transcription	Thymus	Thymus
29	chr11:46001600-46007200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:46001600-46015200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:46001600-46015400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:46001600-46016400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:46001600-46021000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:46002000-46004600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:46002000-46004800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:46002000-46015000	Weak transcription	Fetal Muscle Leg	muscle
37	chr11:46002000-46025000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:46002000-46042400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:46002000-46056200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:46002200-46004600	Weak transcription	Right Ventricle	heart
41	chr11:46002200-46005000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:46002200-46024800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:46002200-46025000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr11:46002400-46005200	Weak transcription	Primary T cells from cord blood	blood
45	chr11:46002600-46004600	Weak transcription	Left Ventricle	heart
46	chr11:46002600-46005800	Weak transcription	Primary B cells from cord blood	blood
47	chr11:46002600-46012000	Weak transcription	GM12878-XiMat	blood
48	chr11:46002600-46023200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:46003000-46005000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:46003000-46005200	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links