Variant report

Variant	nsv975874
Chromosome Location	chr11:5589575-5596212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:5592735-5592768	GM13977	blood:	n/a	n/a
2	CTCF	chr11:5591027-5591085	GM13976	blood:	n/a	n/a
3	FOS	chr11:5595675-5595901	MCF10A-Er-Src	breast:	n/a	chr11:5595767-5595777 chr11:5595769-5595776 chr11:5595768-5595777 chr11:5595768-5595776 chr11:5595766-5595778
4	JUND	chr11:5593844-5594011	HepG2	liver:	n/a	chr11:5593859-5593870
5	JUND	chr11:5595665-5595848	HepG2	liver:	n/a	chr11:5595767-5595777 chr11:5595769-5595776 chr11:5595766-5595777 chr11:5595768-5595777 chr11:5595768-5595776 chr11:5595766-5595778
6	POLR2A	chr11:5590085-5590120	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:5590700-5590728	A549	lung:	n/a	n/a
8	POLR2A	chr11:5590595-5590697	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	11:5586716-5591774..11:5721056-5732713	GM12878	blood:
2	chr11:5589762..5591373-chr11:5592341..5593906,2	K562	blood:
3	chr11:5575874..5577809-chr11:5596077..5598806,2	K562	blood:
4	chr11:5596022..5597747-chr11:5617441..5619475,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR52H1-1	chr11:5593552-5593829	ENSG00000239920.1

Variant related genes	Relation type
OR52T1P	TF binding region
HNRNPA1P53	TF binding region
ENSG00000132274	chromatin interactions
ENSG00000121236	chromatin interactions
ENSG00000258588	chromatin interactions
ENSG00000229534	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149022459	chr11:5589608-5589609	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537145411	chr11:5589615-5589616	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs7108944	chr11:5589638-5589639	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs536049047	chr11:5589647-5589648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547170910	chr11:5589666-5589667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562415996	chr11:5589693-5589694	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75446637	chr11:5589753-5589754	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550977138	chr11:5589760-5589761	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2341429	chr11:5589802-5589803	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539436020	chr11:5589803-5589804	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs551504404	chr11:5589804-5589805	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs10838350	chr11:5589826-5589827	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2341430	chr11:5589862-5589863	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs544863993	chr11:5589906-5589907	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs555235672	chr11:5589956-5589957	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs553365382	chr11:5589983-5589984	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs573899682	chr11:5590014-5590015	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs9804637	chr11:5590038-5590039	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183165304	chr11:5590055-5590056	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs185630097	chr11:5590082-5590083	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs540590488	chr11:5590086-5590087	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs553909498	chr11:5590097-5590098	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs572132759	chr11:5590173-5590174	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs12225848	chr11:5590188-5590189	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562116282	chr11:5590190-5590191	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs529471032	chr11:5590191-5590192	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs544615314	chr11:5590201-5590202	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs34747638	chr11:5590250-5590251	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs563190116	chr11:5590278-5590279	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs529547342	chr11:5590279-5590280	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs555396266	chr11:5590307-5590308	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs4363636	chr11:5590338-5590339	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10838351	chr11:5590345-5590346	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372219747	chr11:5590364-5590365	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs190437865	chr11:5590460-5590461	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs549434010	chr11:5590469-5590470	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs564300638	chr11:5590476-5590477	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs567382812	chr11:5590505-5590506	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs112144864	chr11:5590522-5590523	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs4382942	chr11:5590525-5590526	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs146680422	chr11:5590546-5590547	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs141406706	chr11:5590551-5590552	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs553770559	chr11:5590558-5590559	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs554158840	chr11:5590563-5590564	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11038131	chr11:5590570-5590571	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs542388598	chr11:5590591-5590592	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs373029042	chr11:5590613-5590614	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs574195928	chr11:5590652-5590653	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs201576006	chr11:5590678-5590679	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs145182212	chr11:5590682-5590683	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5596000-5596800	Enhancers	H9 Cell Line	embryonic stem cell

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