Variant report

Variant	nsv553243
Chromosome Location	chr11:5518911-5525654
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5150382..5152243-chr11:5521583..5523771,2	K562	blood:
2	chr11:5525343..5528294-chr11:5586982..5589014,2	K562	blood:
3	chr11:5524418..5526007-chr11:5615212..5617333,2	K562	blood:
4	chr11:5224202..5227710-chr11:5524990..5527435,3	K562	blood:
5	chr11:5524818..5527723-chr11:5704615..5707499,2	K562	blood:
6	chr11:5125985..5128240-chr11:5524056..5525592,2	K562	blood:
7	chr11:5522421..5525288-chr11:5598496..5602680,3	K562	blood:
8	chr11:5521753..5525742-chr11:5559297..5561275,3	K562	blood:
9	11:5523279-5524626..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
10	chr11:5523708..5530495-chr11:5543485..5554743,19	K562	blood:
11	chr11:5518374..5520902-chr11:5549789..5551416,2	K562	blood:
12	chr11:5523660..5528079-chr11:5704615..5707879,4	K562	blood:
13	chr11:5520427..5522185-chr11:5616690..5618726,2	K562	blood:
14	chr11:5513576..5516528-chr11:5519763..5521630,2	MCF-7	breast:
15	chr11:5519079..5520921-chr11:5539054..5541793,2	K562	blood:
16	chr11:5523708..5525810-chr11:5549024..5550782,2	K562	blood:
17	chr11:5490227..5492480-chr11:5518337..5520936,2	K562	blood:
18	chr11:5519637..5522441-chr11:5543101..5545017,2	K562	blood:
19	chr11:5524259..5526613-chr11:5607144..5610085,2	K562	blood:
20	chr11:5522829..5527225-chr11:5617678..5621647,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258588	chromatin interactions
ENSG00000224091	chromatin interactions
ENSG00000249633	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000121236	chromatin interactions
ENSG00000187747	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000224295	chromatin interactions
ENSG00000230484	chromatin interactions
ENSG00000233646	chromatin interactions

Extended variants
information (count: 287 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397076	chr11:5518911-5518912	Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs417382	chr11:5518924-5518925	Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs435810	chr11:5518978-5518979	Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs371288	chr11:5519006-5519007	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138154586	chr11:5519049-5519050	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539518292	chr11:5519109-5519110	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142052348	chr11:5519137-5519138	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530465712	chr11:5519146-5519147	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537998820	chr11:5519151-5519152	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76487769	chr11:5519161-5519162	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564027928	chr11:5519185-5519186	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs414229	chr11:5519195-5519196	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs547686718	chr11:5519257-5519258	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181808513	chr11:5519260-5519261	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs389754	chr11:5519322-5519323	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548945648	chr11:5519361-5519362	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150122756	chr11:5519392-5519393	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs367922697	chr11:5519430-5519431	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs451326	chr11:5519470-5519471	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558884079	chr11:5519474-5519475	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs392884	chr11:5519485-5519486	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2340354	chr11:5519535-5519536	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574241364	chr11:5519592-5519593	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7932480	chr11:5519593-5519594	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs422743	chr11:5519612-5519613	Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116069842	chr11:5519623-5519624	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368572735	chr11:5519641-5519642	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372565229	chr11:5519671-5519672	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563253812	chr11:5519674-5519675	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186368185	chr11:5519735-5519736	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545500211	chr11:5519744-5519745	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531323107	chr11:5519748-5519749	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577114247	chr11:5519765-5519766	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs138374670	chr11:5519799-5519800	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs77454396	chr11:5519812-5519813	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs561764036	chr11:5519817-5519818	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs530358133	chr11:5519826-5519827	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs433202	chr11:5519828-5519829	Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2340355	chr11:5519847-5519848	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190251874	chr11:5519855-5519856	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570385628	chr11:5519884-5519885	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537717095	chr11:5519900-5519901	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564971062	chr11:5519913-5519914	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs367975097	chr11:5519923-5519924	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552580561	chr11:5519976-5519977	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs116777075	chr11:5519984-5519985	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149249414	chr11:5519985-5519986	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553094584	chr11:5519986-5519987	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs182138967	chr11:5520032-5520033	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144375628	chr11:5520054-5520055	Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5517000-5519000	Genic enhancers	K562	blood
2	chr11:5519000-5519600	Transcr. at gene 5' and 3'	K562	blood
3	chr11:5519600-5520200	Genic enhancers	K562	blood
4	chr11:5520200-5526400	Transcr. at gene 5' and 3'	K562	blood

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