Variant report

Variant	esv21145
Chromosome Location	chr5:90618564-90623946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:90622849..90631493-chr5:90673648..90681743,16	K562	blood:
2	chr5:90617175..90620471-chr5:90674787..90678381,3	MCF-7	breast:
3	chr5:90617681..90620260-chr5:90671703..90674445,3	K562	blood:
4	chr5:90622698..90624734-chr5:90648243..90650213,2	K562	blood:
5	chr5:90623090..90625952-chr5:90626730..90629321,3	K562	blood:
6	chr5:90622949..90625056-chr5:90677857..90679858,2	MCF-7	breast:
7	chr5:90620286..90621893-chr5:90673797..90676777,2	K562	blood:
8	chr5:90620286..90631493-chr5:90673961..90680952,22	K562	blood:
9	chr5:90618234..90620090-chr5:90677818..90680379,2	K562	blood:
10	chr5:90620993..90625952-chr5:90626297..90629321,4	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR98-2	chr5:90620894-90621000	XLOC_004468

No data

Variant related genes	Relation type
ENSG00000113369	chromatin interactions

Extended variants
information (count: 205 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553654824	chr5:90618699-90618700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573891267	chr5:90618711-90618712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372110571	chr5:90618753-90618754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555789053	chr5:90618767-90618768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145380492	chr5:90618793-90618794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544739309	chr5:90618866-90618867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564654018	chr5:90618884-90618885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112628643	chr5:90618914-90618915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572017627	chr5:90618928-90618929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541615567	chr5:90618967-90618968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561283976	chr5:90619001-90619002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181177483	chr5:90619013-90619014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111417956	chr5:90619052-90619053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4916859	chr5:90619072-90619073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs376156894	chr5:90619085-90619086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140244648	chr5:90619124-90619125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186444514	chr5:90619125-90619126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371863988	chr5:90619177-90619178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528144123	chr5:90619215-90619216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs70973754	chr5:90619216-90619217	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs397998686	chr5:90619233-90619234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561936161	chr5:90619237-90619238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145207081	chr5:90619261-90619262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115974301	chr5:90619286-90619287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559923631	chr5:90619321-90619322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs137876222	chr5:90619352-90619353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs13185895	chr5:90619353-90619354	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142487941	chr5:90619354-90619355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569581903	chr5:90619370-90619371	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189306081	chr5:90619371-90619372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558084827	chr5:90619471-90619472	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532957482	chr5:90619496-90619497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540759972	chr5:90619498-90619499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs180899967	chr5:90619501-90619502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567654482	chr5:90619518-90619519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538085319	chr5:90619550-90619551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73183231	chr5:90619551-90619552	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs117737179	chr5:90619552-90619553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112644494	chr5:90619596-90619597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374964887	chr5:90619600-90619601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546220901	chr5:90619607-90619608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs191190143	chr5:90619608-90619609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs369713582	chr5:90619618-90619619	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368038111	chr5:90619652-90619653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548373835	chr5:90619653-90619654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs567490816	chr5:90619666-90619667	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs182969955	chr5:90619780-90619781	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577897564	chr5:90619791-90619792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187068276	chr5:90619838-90619839	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs6880312	chr5:90619868-90619869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90613800-90624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:90618800-90619000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:90619000-90619200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:90619000-90619400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:90619000-90629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:90619200-90619400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:90619200-90619400	Enhancers	Stomach Smooth Muscle	stomach
8	chr5:90619200-90620200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:90619400-90620000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:90619400-90620200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:90619400-90620600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:90620000-90620400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:90620000-90620600	Weak transcription	Fetal Stomach	stomach
14	chr5:90620000-90621200	Enhancers	Stomach Smooth Muscle	stomach
15	chr5:90620200-90620400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:90620200-90620400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:90620200-90620400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:90620200-90620400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:90620200-90620600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:90620400-90621000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:90620400-90621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:90620400-90627600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:90620600-90620800	Enhancers	Colonic Mucosa	Colon
24	chr5:90620600-90620800	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr5:90620600-90621000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:90620600-90621000	ZNF genes & repeats	Fetal Stomach	stomach
27	chr5:90620600-90621200	Enhancers	Colon Smooth Muscle	Colon
28	chr5:90620600-90621200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr5:90621000-90621200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:90621000-90621200	Enhancers	A549	lung
31	chr5:90621000-90621800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:90621000-90624600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:90621200-90622800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:90621200-90623800	Weak transcription	A549	lung
35	chr5:90621200-90624600	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:90621200-90625000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr5:90621400-90621800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:90621800-90627600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:90621800-90634600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:90622000-90622400	Weak transcription	Fetal Stomach	stomach
41	chr5:90622800-90623000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:90622800-90623200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr5:90623000-90624400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:90623200-90627800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:90623800-90624600	Enhancers	A549	lung

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