Variant report

Variant	esv999321
Chromosome Location	chr11:5578174-5579208
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	BHLHE40	chr11:5578054-5578419	K562	blood:	n/a	n/a
2	CUX1	chr11:5579092-5579112	K562	blood:	n/a	n/a
3	MAX	chr11:5578165-5578378	K562	blood:	n/a	chr11:5578315-5578326
4	MYC	chr11:5578058-5578447	K562	blood:	n/a	chr11:5578315-5578326
5	UBTF	chr11:5578137-5578303	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	11:5250847-5268367..11:5571131-5578892	K562	blood:
2	chr11:5527022..5529491-chr11:5577103..5579456,2	K562	blood:
3	chr11:5577515..5579353-chr11:5616024..5618280,2	MCF-7	breast:

Variant related genes	Relation type
OR52H2P	TF binding region
OR52B5P	TF binding region
ENSG00000223609	chromatin interactions
ENSG00000121236	chromatin interactions
ENSG00000258588	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000229988	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552278667	chr11:5578176-5578177	Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs187238705	chr11:5578183-5578184	Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs571286687	chr11:5578244-5578245	Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs572248414	chr11:5578251-5578252	Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs1541941	chr11:5578343-5578344	Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs34039780	chr11:5578420-5578421	Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs560828221	chr11:5578426-5578427	Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs1541940	chr11:5578429-5578430	Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1541939	chr11:5578434-5578435	Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1541938	chr11:5578438-5578439	Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs140048025	chr11:5578470-5578471	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs12278911	chr11:5578477-5578478	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs4910570	chr11:5578481-5578482	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs1541937	chr11:5578558-5578559	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548979149	chr11:5578564-5578565	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs567295904	chr11:5578575-5578576	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs1541936	chr11:5578584-5578585	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs559134776	chr11:5578601-5578602	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs12795529	chr11:5578604-5578605	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs371189251	chr11:5578608-5578609	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs571641658	chr11:5578631-5578632	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs538873162	chr11:5578634-5578635	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs553640293	chr11:5578656-5578657	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs542233961	chr11:5578663-5578664	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs572316220	chr11:5578675-5578676	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs12793483	chr11:5578677-5578678	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs12793484	chr11:5578678-5578679	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs192108038	chr11:5578688-5578689	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs4243961	chr11:5578698-5578699	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577622042	chr11:5578701-5578702	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs576140264	chr11:5578703-5578704	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs4243962	chr11:5578707-5578708	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs1433571	chr11:5578729-5578730	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529408371	chr11:5578801-5578802	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs576815064	chr11:5578820-5578821	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs545591443	chr11:5578827-5578828	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs560444448	chr11:5578836-5578837	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs202084807	chr11:5578842-5578843	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs200078265	chr11:5578843-5578844	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs563104860	chr11:5578914-5578915	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs528012489	chr11:5578949-5578950	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs137954285	chr11:5578973-5578974	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs1368697	chr11:5578992-5578993	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs114233855	chr11:5579026-5579027	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs7483932	chr11:5579031-5579032	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs1368696	chr11:5579039-5579040	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1368695	chr11:5579046-5579047	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs11607359	chr11:5579122-5579123	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs547586587	chr11:5579138-5579139	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs184744839	chr11:5579150-5579151	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5563600-5582400	Weak transcription	Aorta	Aorta
2	chr11:5577600-5578600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr11:5577800-5578200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr11:5577800-5578400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:5577800-5578400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr11:5577800-5578400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:5577800-5578400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr11:5577800-5578600	Enhancers	K562	blood
9	chr11:5578000-5578600	Enhancers	Adipose Nuclei	Adipose
10	chr11:5578000-5578800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr11:5578200-5578800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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