Variant report

Variant	esv3469667
Chromosome Location	chr5:104271818-104298542
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:0)
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	chr5:104296966..104298915-chr5:104301513..104303519,2	K562	blood:
2	chr17:57921408..57924296-chr5:104291652..104294224,2	MCF-7	breast:
3	chr5:104294786..104295742-chr9:99125283..99126098,2	MCF-7	breast:
4	chr5:104270441..104272983-chr5:104273696..104275223,2	K562	blood:
5	chr5:104256936..104259316-chr5:104275958..104278631,2	K562	blood:
6	chr5:104245189..104247786-chr5:104277262..104279951,2	MCF-7	breast:
7	chr5:104277822..104279427-chr5:104300449..104302157,2	MCF-7	breast:
8	chr5:104271936..104274851-chr5:104276428..104278480,3	MCF-7	breast:
9	chr5:104271936..104274851-chr5:104276428..104278480,3	MCF-7	breast:
10	chr5:104270441..104272983-chr5:104273696..104275223,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251574	chromatin interactions

Extended variants
information (count: 521 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35353132	chr5:104277279-104277280	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563146618	chr5:104277298-104277299	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192149969	chr5:104277305-104277306	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540266479	chr5:104277347-104277348	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35161592	chr5:104277357-104277358	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113307211	chr5:104277368-104277369	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs386404618	chr5:104277369-104277370	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs397881553	chr5:104277370-104277371	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7706440	chr5:104277433-104277434	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142286300	chr5:104277483-104277484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs532268751	chr5:104277523-104277524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377354899	chr5:104277539-104277540	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372608380	chr5:104277548-104277549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377057124	chr5:104277570-104277571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528789019	chr5:104277601-104277602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10076228	chr5:104277624-104277625	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182850803	chr5:104277653-104277654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs73777370	chr5:104277660-104277661	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs111865356	chr5:104277671-104277672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187757781	chr5:104277673-104277674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191732046	chr5:104277687-104277688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184283081	chr5:104277721-104277722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370953881	chr5:104277723-104277724	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570478328	chr5:104277764-104277765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563267651	chr5:104277766-104277767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116127284	chr5:104277796-104277797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs62368234	chr5:104277841-104277842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139720317	chr5:104277844-104277845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs35689351	chr5:104277944-104277945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566139071	chr5:104277990-104277991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376190513	chr5:104278009-104278010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142862940	chr5:104278010-104278011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540507182	chr5:104278030-104278031	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188928556	chr5:104278044-104278045	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs116521292	chr5:104278046-104278047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs192184394	chr5:104278129-104278130	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs115727342	chr5:104278166-104278167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549276210	chr5:104278283-104278284	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572910280	chr5:104278382-104278383	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562641075	chr5:104278437-104278438	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531289249	chr5:104278491-104278492	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1659037	chr5:104278498-104278499	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs561917944	chr5:104278515-104278516	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527991936	chr5:104278560-104278561	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs1837248	chr5:104278612-104278613	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs570515139	chr5:104278624-104278625	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1438656	chr5:104278663-104278664	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184724466	chr5:104278664-104278665	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549899068	chr5:104278665-104278666	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556391799	chr5:104278730-104278731	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104277200-104277400	Enhancers	Fetal Intestine Large	intestine
2	chr5:104277200-104277400	Enhancers	Fetal Intestine Small	intestine
3	chr5:104277400-104278400	Weak transcription	Fetal Intestine Large	intestine
4	chr5:104277600-104283000	Weak transcription	Fetal Intestine Small	intestine
5	chr5:104277800-104278600	Enhancers	Hela-S3	cervix
6	chr5:104278200-104278800	Enhancers	Colon Smooth Muscle	Colon
7	chr5:104278400-104279200	Enhancers	Fetal Intestine Large	intestine
8	chr5:104279200-104283000	Weak transcription	Fetal Intestine Large	intestine
9	chr5:104283000-104283800	Enhancers	Fetal Intestine Large	intestine
10	chr5:104283000-104283800	Enhancers	Fetal Intestine Small	intestine
11	chr5:104283800-104287800	Weak transcription	Fetal Intestine Small	intestine
12	chr5:104287400-104288000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:104287600-104287800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:104287600-104288000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:104288000-104290600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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