Variant report

Variant	esv3464823
Chromosome Location	chr4:16444153-16460887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:16291216..16292322-chr4:16444840..16445760,4	MCF-7	breast:
2	chr4:16291175..16292655-chr4:16444905..16445780,4	MCF-7	breast:
3	chr4:16459198..16462112-chr4:16462228..16466168,3	MCF-7	breast:
4	chr4:16292192..16292811-chr4:16446518..16447107,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD38-3	chr4:16453975-16454393	NONHSAT095690

Extended variants
information (count: 390 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531373401	chr4:16444240-16444241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73798771	chr4:16444272-16444273	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73798772	chr4:16444303-16444304	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527620739	chr4:16444305-16444306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145044260	chr4:16444339-16444340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116215980	chr4:16444357-16444358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529708863	chr4:16444386-16444387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1158866	chr4:16444413-16444414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138894791	chr4:16444453-16444454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367599343	chr4:16444508-16444509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538403682	chr4:16444519-16444520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552046209	chr4:16444650-16444651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571969555	chr4:16444679-16444680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566870559	chr4:16444726-16444727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202126145	chr4:16444728-16444729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541296209	chr4:16444735-16444736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75597827	chr4:16444736-16444737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34363492	chr4:16444765-16444766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150414352	chr4:16444804-16444805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138147938	chr4:16444820-16444821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183760049	chr4:16444872-16444873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113742701	chr4:16444882-16444883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529349738	chr4:16444886-16444887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375029214	chr4:16444889-16444890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59803805	chr4:16444921-16444922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564784400	chr4:16444930-16444931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571994263	chr4:16444948-16444949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57241173	chr4:16445019-16445020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539807386	chr4:16445059-16445060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35487885	chr4:16445100-16445101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201666094	chr4:16445103-16445104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369523205	chr4:16445109-16445110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561259694	chr4:16445175-16445176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538033353	chr4:16445207-16445208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80018971	chr4:16445242-16445243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558058316	chr4:16445243-16445244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529613948	chr4:16445255-16445256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372003187	chr4:16445267-16445268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193102001	chr4:16445277-16445278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532294549	chr4:16445303-16445304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551984924	chr4:16445317-16445318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540370316	chr4:16445406-16445407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185176726	chr4:16445460-16445461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147222989	chr4:16445461-16445462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547743433	chr4:16445470-16445471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567950402	chr4:16445547-16445548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140474114	chr4:16445548-16445549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556562302	chr4:16445554-16445555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576125041	chr4:16445617-16445618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113742847	chr4:16445658-16445659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16443800-16449600	Weak transcription	Fetal Brain Male	brain
2	chr4:16444200-16444400	Enhancers	NH-A	brain
3	chr4:16448400-16448600	Enhancers	Fetal Brain Female	brain
4	chr4:16448600-16449600	Weak transcription	Fetal Brain Female	brain
5	chr4:16449000-16452800	Enhancers	Fetal Kidney	kidney
6	chr4:16449600-16450400	Enhancers	Fetal Brain Female	brain
7	chr4:16449600-16452200	Enhancers	Fetal Brain Male	brain
8	chr4:16450200-16451400	Enhancers	Fetal Stomach	stomach
9	chr4:16450200-16451600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:16450400-16451200	Weak transcription	Fetal Brain Female	brain
11	chr4:16450600-16450800	Bivalent Enhancer	Fetal Lung	lung
12	chr4:16450800-16452200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:16451200-16451800	Enhancers	Fetal Brain Female	brain
14	chr4:16451400-16452200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:16451400-16452200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr4:16451600-16452200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr4:16451800-16452000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
18	chr4:16451800-16452000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr4:16452000-16452200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr4:16452000-16452400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr4:16453600-16453800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:16453800-16454000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr4:16454800-16455200	Enhancers	Fetal Lung	lung
24	chr4:16459800-16460000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:16459800-16460000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:16459800-16460200	Enhancers	Esophagus	oesophagus
27	chr4:16460400-16460600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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