Variant report

Variant	esv2763495
Chromosome Location	chr5:119189423-119240003
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	chr18:65208157..65208941-chr5:119229771..119230382,2	MCF-7	breast:
2	chr2:185990403..185991343-chr5:119236365..119236898,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM170A-2	chr5:119198854-119198913	l_3004_chr5:119198853-119375297_testes

Extended variants
information (count: 649 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:649 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184703307	chr5:119194661-119194662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114156738	chr5:119194675-119194676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565387479	chr5:119194699-119194700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12187829	chr5:119194720-119194721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189894174	chr5:119194725-119194726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540033563	chr5:119194747-119194748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181527183	chr5:119194761-119194762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80022307	chr5:119194803-119194804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549640681	chr5:119194808-119194809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184603479	chr5:119194812-119194813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189476802	chr5:119194875-119194876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538236694	chr5:119194905-119194906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551716784	chr5:119194917-119194918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565771863	chr5:119194934-119194935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34181505	chr5:119194948-119194949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180725529	chr5:119194968-119194969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574138781	chr5:119194972-119194973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536976924	chr5:119194980-119194981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559242939	chr5:119194984-119194985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4547953	chr5:119195015-119195016	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12186842	chr5:119195018-119195019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs76761661	chr5:119195020-119195021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572516003	chr5:119195039-119195040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532909503	chr5:119195079-119195080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371621560	chr5:119195096-119195097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75370299	chr5:119195155-119195156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561164358	chr5:119195157-119195158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529844347	chr5:119195206-119195207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543352218	chr5:119195212-119195213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371405294	chr5:119195267-119195268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145532173	chr5:119195281-119195282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532228836	chr5:119195297-119195298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141339796	chr5:119195316-119195317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185052905	chr5:119195348-119195349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs202012025	chr5:119195410-119195411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146853104	chr5:119195481-119195482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73248124	chr5:119195589-119195590	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555354609	chr5:119196004-119196005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76708108	chr5:119196041-119196042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530591140	chr5:119196045-119196046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12653555	chr5:119196051-119196052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539771791	chr5:119196052-119196053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557909396	chr5:119196064-119196065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550409976	chr5:119196072-119196073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368085249	chr5:119196095-119196096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570245076	chr5:119196109-119196110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539369084	chr5:119196155-119196156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558983293	chr5:119196240-119196241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566105221	chr5:119196246-119196247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534716041	chr5:119196251-119196252	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119194600-119195400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:119194800-119195600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:119196000-119196200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:119196000-119196600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:119200800-119201000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:119205800-119206000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:119206000-119209400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:119209400-119209800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:119211800-119213200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr5:119213200-119215400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:119214200-119214800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:119214200-119215000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:119214400-119214800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:119214400-119215000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:119214400-119215200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:119214600-119215000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:119215400-119215600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr5:119228000-119228200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr5:119228200-119228800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:119228600-119229000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:119229000-119233000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:119229600-119229800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:119232200-119232400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:119232200-119233200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:119232400-119232800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr5:119232400-119233600	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr5:119232800-119233800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr5:119233000-119233800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:119233800-119234400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links