Variant report

Variant	esv3321802
Chromosome Location	chr11:5139876-5140924
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5137223-5140360..11:5243048-5250847	GM12878	blood:
2	11:5137223-5140360..11:5533869-5541626	GM12878	blood:
3	chr11:5138048..5140738-chr11:5144465..5146975,2	K562	blood:
4	chr11:5140099..5148928-chr11:5149317..5155604,15	K562	blood:
5	11:5137223-5140360..11:5250847-5268367	Hela-S3	cervix:
6	11:5137223-5140360..11:5566274-5571131	Hela-S3	cervix:
7	11:4778081-4789138..11:5137223-5140360	Hela-S3	cervix:
8	11:5137223-5140360..11:5505728-5514500	Hela-S3	cervix:
9	11:5137223-5140360..11:5721056-5732713	GM12878	blood:
10	11:5137223-5140360..11:5407716-5412355	GM12878	blood:
11	11:5137223-5140360..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
12	chr11:5138070..5140863-chr11:5316692..5319201,2	K562	blood:
13	11:5137223-5140360..11:5714465-5718134	K562	blood:
14	11:5137223-5140360..11:5527719-5533869	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000181609	chromatin interactions
ENSG00000244734	chromatin interactions
ENSG00000181616	chromatin interactions
ENSG00000175518	chromatin interactions
ENSG00000171944	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000205494	chromatin interactions
ENSG00000184698	chromatin interactions
ENSG00000167346	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000175520	chromatin interactions
ENSG00000221031	chromatin interactions
ENSG00000223609	chromatin interactions
ENSG00000229988	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546585031	chr11:5139894-5139895	Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs146314897	chr11:5139916-5139917	Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs61880360	chr11:5139935-5139936	Weak transcription	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187982242	chr11:5139947-5139948	Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs575337166	chr11:5139988-5139989	Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs11035750	chr11:5139989-5139990	Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs192407367	chr11:5140005-5140006	Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs116115600	chr11:5140132-5140133	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs200639212	chr11:5140165-5140166	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs368605718	chr11:5140169-5140170	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs12276225	chr11:5140174-5140175	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs11035752	chr11:5140183-5140184	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs541343892	chr11:5140184-5140185	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs78671045	chr11:5140219-5140220	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs373572322	chr11:5140222-5140223	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs373981609	chr11:5140223-5140224	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs144919085	chr11:5140237-5140238	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs145255364	chr11:5140250-5140251	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs185562188	chr11:5140255-5140256	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs189370282	chr11:5140260-5140261	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs181379833	chr11:5140265-5140266	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs184509452	chr11:5140269-5140270	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs559285638	chr11:5140307-5140308	Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs574744756	chr11:5140418-5140419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188477754	chr11:5140419-5140420	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs12276349	chr11:5140444-5140445	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531070291	chr11:5140470-5140471	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116282220	chr11:5140476-5140477	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs181497986	chr11:5140485-5140486	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528354121	chr11:5140521-5140522	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs186444758	chr11:5140532-5140533	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs190896507	chr11:5140583-5140584	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs535093462	chr11:5140668-5140669	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs578040295	chr11:5140681-5140682	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs545408783	chr11:5140747-5140748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557534710	chr11:5140763-5140764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558694985	chr11:5140848-5140849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577035910	chr11:5140878-5140879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs148735997	chr11:5140895-5140896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113192621	chr11:5140912-5140913	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5137400-5144000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:5139000-5144800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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