Variant report

Variant	esv1797550
Chromosome Location	chr5:98333129-98346514
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:98264191..98266799-chr5:98330769..98334496,3	MCF-7	breast:
2	chr5:98341705..98344564-chr5:98346126..98348724,2	K562	blood:
3	chr5:98334839..98337187-chr5:98340371..98342752,2	K562	blood:
4	chr5:98336536..98338225-chr5:98341064..98343650,2	K562	blood:
5	chr5:98263100..98265682-chr5:98335904..98338137,3	K562	blood:
6	chr5:98319399..98322324-chr5:98333991..98335687,2	K562	blood:
7	chr5:98334839..98337187-chr5:98340371..98342752,2	K562	blood:
8	chr5:98336536..98338225-chr5:98341064..98343650,2	K562	blood:
9	chr5:98341705..98344564-chr5:98346126..98348724,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248489	chromatin interactions

Extended variants
information (count: 493 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7737402	chr5:98333129-98333130	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6898680	chr5:98333170-98333171	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs367775705	chr5:98333191-98333192	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190414477	chr5:98333196-98333197	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549030652	chr5:98333219-98333220	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544360725	chr5:98333220-98333221	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371755499	chr5:98333275-98333276	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192879508	chr5:98333303-98333304	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548694276	chr5:98333310-98333311	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565565234	chr5:98333314-98333315	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560395301	chr5:98333336-98333337	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78327274	chr5:98333354-98333355	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185813782	chr5:98333362-98333363	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534301536	chr5:98333363-98333364	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571524832	chr5:98333370-98333371	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538974098	chr5:98333403-98333404	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs73155499	chr5:98333448-98333449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs189388890	chr5:98333451-98333452	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs78229791	chr5:98333458-98333459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375942078	chr5:98333459-98333460	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs819230	chr5:98333460-98333461	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs558140354	chr5:98333463-98333464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35948492	chr5:98333479-98333480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577114455	chr5:98333503-98333504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544915888	chr5:98333511-98333512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562934127	chr5:98333512-98333513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113602972	chr5:98333513-98333514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs819231	chr5:98333543-98333544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs149637546	chr5:98333544-98333545	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368403502	chr5:98333587-98333588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535036037	chr5:98333604-98333605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569706073	chr5:98333606-98333607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372383178	chr5:98333607-98333608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527805023	chr5:98333630-98333631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572623486	chr5:98333699-98333700	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181837358	chr5:98333720-98333721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572508464	chr5:98333735-98333736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs564501308	chr5:98333769-98333770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532444806	chr5:98333941-98333942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538511679	chr5:98333968-98333969	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs10068917	chr5:98334100-98334101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs549637047	chr5:98334108-98334109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114582649	chr5:98334125-98334126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144407853	chr5:98334133-98334134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183862113	chr5:98334160-98334161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs78946128	chr5:98334217-98334218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7727987	chr5:98334257-98334258	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558105654	chr5:98334259-98334260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148710783	chr5:98334264-98334265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538145577	chr5:98334274-98334275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	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
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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	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
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98331800-98336800	Weak transcription	Stomach Mucosa	stomach
2	chr5:98332200-98333200	Enhancers	NHDF-Ad	bronchial
3	chr5:98332200-98334200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:98332400-98333400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:98332400-98333400	Enhancers	Osteobl	bone
6	chr5:98332600-98333400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:98333000-98333200	Enhancers	HepG2	liver
8	chr5:98333400-98336200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:98333600-98333800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:98333800-98336600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:98334200-98335400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:98335200-98336200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:98335400-98335800	Enhancers	HMEC	breast
14	chr5:98335400-98337800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:98335600-98336200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:98336200-98337400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:98336400-98337400	Enhancers	HUVEC	blood vessel
18	chr5:98336600-98338000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr5:98336600-98338400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:98336800-98337200	Enhancers	Stomach Mucosa	stomach
21	chr5:98337400-98340800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:98337800-98340600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:98339800-98340800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:98339800-98341000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr5:98339800-98343600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:98340000-98341000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:98340000-98341600	Enhancers	GM12878-XiMat	blood
28	chr5:98340000-98342000	Enhancers	Primary B cells from peripheral blood	blood
29	chr5:98340200-98341600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:98340200-98342200	Enhancers	Primary B cells from cord blood	blood
31	chr5:98340600-98342400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:98340800-98341000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:98340800-98341200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr5:98340800-98341600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:98340800-98342000	Enhancers	HepG2	liver
36	chr5:98340800-98342400	Enhancers	Adipose Nuclei	Adipose
37	chr5:98340800-98343600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:98341200-98341800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:98341800-98342000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:98342000-98345600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:98342400-98343400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:98343200-98343400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:98343400-98343600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:98343400-98343600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:98343600-98345000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr5:98343600-98354800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:98345000-98345600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:98345200-98345400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr5:98345200-98346000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr5:98345200-98347000	Enhancers	H1 Cell Line	embryonic stem cell

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