Variant report

Variant	esv3468897
Chromosome Location	chr11:18443382-18444837
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18415718..18417839-chr11:18444013..18446628,2	K562	blood:
2	chr11:18442100..18443660-chr11:18447182..18449184,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134333	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148073316	chr11:18444069-18444070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113941173	chr11:18444100-18444101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564559399	chr11:18444101-18444102	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141789462	chr11:18444117-18444118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567409182	chr11:18444195-18444196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150552305	chr11:18444213-18444214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139579147	chr11:18444233-18444234	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113329412	chr11:18444280-18444281	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538392490	chr11:18444300-18444301	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557087540	chr11:18444301-18444302	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs538266060	chr11:18444303-18444304	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs59702090	chr11:18444307-18444308	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550543983	chr11:18444308-18444309	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562370357	chr11:18444310-18444311	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574221619	chr11:18444420-18444421	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541431350	chr11:18444443-18444444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs559521678	chr11:18444486-18444487	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533338351	chr11:18444513-18444514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113194438	chr11:18444543-18444544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs202020496	chr11:18444551-18444552	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs377338928	chr11:18444552-18444553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370972408	chr11:18444555-18444556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373494644	chr11:18444556-18444557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375638045	chr11:18444557-18444558	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370087641	chr11:18444562-18444563	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs35017114	chr11:18444563-18444564	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs397716422	chr11:18444564-18444565	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551508232	chr11:18444670-18444671	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199904372	chr11:18444683-18444684	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs548983439	chr11:18444690-18444691	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs180828023	chr11:18444699-18444700	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530629837	chr11:18444707-18444708	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs386751169	chr11:18444730-18444731	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs2056783	chr11:18444737-18444738	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145392120	chr11:18444756-18444757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533926727	chr11:18444768-18444769	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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