Variant report

Variant	nsv554209
Chromosome Location	chr11:47353498-47364127
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:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47362842..47364563-chr11:47366345..47368440,2	K562	blood:
2	chr11:47362842..47365902-chr11:47366345..47370723,5	K562	blood:
3	chr11:47359409..47362242-chr11:47362245..47364967,2	MCF-7	breast:
4	chr11:47362680..47364496-chr11:47377424..47380369,2	K562	blood:
5	chr11:47363713..47366584-chr11:47446217..47448131,2	K562	blood:
6	chr11:47352349..47353915-chr11:47361681..47363878,2	MCF-7	breast:
7	chr11:47290102..47294520-chr11:47352678..47355861,4	K562	blood:
8	chr11:47355037..47357113-chr11:47358668..47360335,2	K562	blood:
9	chr11:47363419..47366259-chr11:47367466..47368974,2	MCF-7	breast:
10	chr11:47288601..47291966-chr11:47362403..47364981,3	K562	blood:
11	chr11:47352349..47353915-chr11:47361681..47363878,2	MCF-7	breast:
12	chr11:47289934..47292740-chr11:47359778..47361586,3	MCF-7	breast:
13	chr11:47346954..47348985-chr11:47352662..47354542,2	MCF-7	breast:
14	chr11:47359409..47362242-chr11:47362245..47364967,2	MCF-7	breast:
15	chr11:47353935..47356696-chr11:47429697..47432072,2	MCF-7	breast:
16	chr11:47355176..47357449-chr11:47361021..47363432,2	K562	blood:
17	chr11:47360279..47361915-chr11:47365938..47368150,2	K562	blood:
18	chr11:47350500..47353711-chr11:47353800..47358007,4	MCF-7	breast:
19	chr11:47358646..47361164-chr11:47367434..47369849,2	MCF-7	breast:
20	chr11:47358496..47361439-chr11:47361620..47365193,4	K562	blood:
21	chr11:47204720..47207139-chr11:47362825..47364900,2	K562	blood:
22	chr11:47344879..47353948-chr11:47354460..47361122,13	K562	blood:
23	chr11:47289590..47291966-chr11:47362403..47364981,2	K562	blood:
24	chr11:47362758..47365324-chr11:47366232..47368748,4	MCF-7	breast:
25	chr11:47357637..47360736-chr11:47361620..47364167,4	K562	blood:
26	chr11:47358496..47361439-chr11:47361620..47365193,4	K562	blood:
27	chr11:47265171..47267198-chr11:47359586..47362493,2	K562	blood:
28	chr11:47363652..47368436-chr11:47368498..47371185,5	K562	blood:
29	chr11:47357637..47360736-chr11:47361620..47364167,4	K562	blood:
30	chr11:47347273..47351481-chr11:47353649..47359054,5	K562	blood:
31	chr11:47348171..47351381-chr11:47356672..47359891,3	MCF-7	breast:
32	chr11:47354148..47357317-chr11:47361021..47366088,5	K562	blood:
33	chr11:47352757..47353542-chr11:47376561..47377283,2	MCF-7	breast:
34	chr11:47354148..47357317-chr11:47361021..47366088,5	K562	blood:
35	chr11:47362701..47365249-chr11:47372942..47374468,2	K562	blood:
36	chr11:47350500..47353711-chr11:47353800..47358007,4	MCF-7	breast:
37	chr11:47355176..47357449-chr11:47361021..47363432,2	K562	blood:
38	chr11:47355037..47357113-chr11:47358668..47360335,2	K562	blood:
39	chr11:47291226..47293092-chr11:47352052..47354178,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134571	chromatin interactions
ENSG00000165915	chromatin interactions
ENSG00000134575	chromatin interactions
ENSG00000025434	chromatin interactions
ENSG00000256746	chromatin interactions
ENSG00000165916	chromatin interactions
ENSG00000255197	chromatin interactions
ENSG00000110514	chromatin interactions
ENSG00000165912	chromatin interactions

Extended variants
information (count: 658 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2290146	chr11:47353498-47353499	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376162875	chr11:47353510-47353511	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11570117	chr11:47353523-47353524	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs555554960	chr11:47353577-47353578	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373318897	chr11:47353580-47353581	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs572266379	chr11:47353593-47353594	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs377479891	chr11:47353596-47353597	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs397516042	chr11:47353626-47353627	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs541377415	chr11:47353636-47353637	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs397516041	chr11:47353640-47353641	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs397514751	chr11:47353646-47353647	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370338674	chr11:47353650-47353651	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs397516040	chr11:47353668-47353669	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs193922384	chr11:47353677-47353678	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs374760003	chr11:47353681-47353682	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs397516039	chr11:47353684-47353685	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs202147520	chr11:47353695-47353696	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs543376073	chr11:47353696-47353697	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs397516038	chr11:47353702-47353703	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs267602904	chr11:47353722-47353723	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs397516036	chr11:47353732-47353733	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200162906	chr11:47353738-47353739	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs397516037	chr11:47353740-47353741	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs397516035	chr11:47353743-47353744	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs528940575	chr11:47353754-47353755	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs201312636	chr11:47353755-47353756	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs397516034	chr11:47353760-47353761	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs397516033	chr11:47353761-47353762	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368221517	chr11:47353765-47353766	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs372821359	chr11:47353769-47353770	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374755212	chr11:47353783-47353784	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528649058	chr11:47353786-47353787	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs368765949	chr11:47353795-47353796	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs397514444	chr11:47353819-47353820	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs371428751	chr11:47353821-47353822	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs36212066	chr11:47353826-47353827	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs374674198	chr11:47353841-47353842	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs185680707	chr11:47353892-47353893	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs368244910	chr11:47353899-47353900	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs557284558	chr11:47353911-47353912	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs34900856	chr11:47353928-47353929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs11570116	chr11:47353985-47353986	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs567658682	chr11:47353995-47353996	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs3729802	chr11:47354068-47354069	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs373904644	chr11:47354087-47354088	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs572304970	chr11:47354088-47354089	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs397516031	chr11:47354116-47354117	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs397516029	chr11:47354119-47354120	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs397516030	chr11:47354120-47354121	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs397516028	chr11:47354145-47354146	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 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
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	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
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47294600-47355200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:47296000-47353600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:47324200-47354600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr11:47326000-47353600	Strong transcription	Fetal Stomach	stomach
5	chr11:47338800-47356200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:47342800-47353600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:47343200-47370600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:47347800-47354000	Weak transcription	HSMM	muscle
9	chr11:47347800-47354800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:47348000-47358200	Weak transcription	K562	blood
11	chr11:47348600-47355000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:47349800-47354000	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr11:47350400-47356800	Genic enhancers	Right Ventricle	heart
14	chr11:47350800-47354400	Genic enhancers	Left Ventricle	heart
15	chr11:47350800-47357400	Weak transcription	HepG2	liver
16	chr11:47351000-47354000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:47351000-47355800	Enhancers	Fetal Heart	heart
18	chr11:47351200-47353800	Weak transcription	Fetal Lung	lung
19	chr11:47351200-47353800	Enhancers	Stomach Mucosa	stomach
20	chr11:47351200-47354200	Weak transcription	Osteobl	bone
21	chr11:47351200-47354600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:47351400-47354800	Weak transcription	Brain Angular Gyrus	brain
23	chr11:47351400-47358800	Weak transcription	Aorta	Aorta
24	chr11:47351400-47375600	Weak transcription	Primary B cells from cord blood	blood
25	chr11:47351600-47358400	Weak transcription	A549	lung
26	chr11:47351600-47358600	Weak transcription	Hela-S3	cervix
27	chr11:47351800-47354000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:47352000-47353600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:47352000-47354200	Weak transcription	Primary T cells from cord blood	blood
30	chr11:47352000-47354200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr11:47352000-47354200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:47352200-47353800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr11:47352200-47354000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:47352200-47354600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:47352200-47355400	Weak transcription	Fetal Brain Female	brain
36	chr11:47352400-47353600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:47352400-47353600	Weak transcription	Right Atrium	heart
38	chr11:47352400-47353800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:47352400-47354000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:47352400-47354000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:47352400-47354000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:47352400-47354000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:47352400-47354000	Weak transcription	Dnd41	blood
44	chr11:47352400-47354200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:47352400-47354200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:47352400-47354200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:47352400-47354200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:47352400-47354200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:47352400-47354200	Enhancers	Colonic Mucosa	Colon
50	chr11:47352400-47354200	Weak transcription	Ovary	ovary

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