Variant report

Variant	esv3411143
Chromosome Location	chr5:146639214-146640140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573206433	chr5:146639227-146639228	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78782774	chr5:146639307-146639308	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10054226	chr5:146639317-146639318	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs373822347	chr5:146639325-146639326	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578106404	chr5:146639361-146639362	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60365153	chr5:146639392-146639393	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142849764	chr5:146639393-146639394	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397977252	chr5:146639400-146639401	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533933345	chr5:146639405-146639406	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10074974	chr5:146639421-146639422	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79213510	chr5:146639445-146639446	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116548350	chr5:146639450-146639451	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369293363	chr5:146639454-146639455	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542826242	chr5:146639459-146639460	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532374404	chr5:146639461-146639462	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111066718	chr5:146639464-146639465	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575815213	chr5:146639485-146639486	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147584061	chr5:146639495-146639496	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544730900	chr5:146639499-146639500	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142919973	chr5:146639506-146639507	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200638532	chr5:146639521-146639522	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193271733	chr5:146639552-146639553	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544473981	chr5:146639560-146639561	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199627594	chr5:146639562-146639563	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185060103	chr5:146639587-146639588	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200558482	chr5:146639596-146639597	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146133288	chr5:146639605-146639606	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111207714	chr5:146639606-146639607	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188995056	chr5:146639608-146639609	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192342874	chr5:146639609-146639610	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539031069	chr5:146639612-146639613	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569501868	chr5:146639617-146639618	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533423524	chr5:146639630-146639631	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139741759	chr5:146639651-146639652	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375751068	chr5:146639654-146639655	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200804239	chr5:146639681-146639682	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531940339	chr5:146639689-146639690	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537671852	chr5:146639708-146639709	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374467268	chr5:146639727-146639728	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148644816	chr5:146639728-146639729	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201558886	chr5:146639730-146639731	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201742553	chr5:146639732-146639733	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537848759	chr5:146639739-146639740	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199650927	chr5:146639741-146639742	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200778900	chr5:146639742-146639743	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376544632	chr5:146639753-146639754	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13177885	chr5:146639771-146639772	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139408458	chr5:146639782-146639783	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74222829	chr5:146639793-146639794	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551947847	chr5:146639798-146639799	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146622200-146640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:146628600-146659200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:146638400-146639600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:146639200-146640000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:146639200-146640000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
6	chr5:146639200-146642800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:146639600-146639800	Enhancers	Stomach Mucosa	stomach
8	chr5:146640000-146640200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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