Variant report

Variant	esv3366879
Chromosome Location	chr5:96324196-96326144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96269269..96275353-chr5:96319693..96327052,9	MCF-7	breast:
2	chr5:96318317..96320679-chr5:96324644..96327086,2	K562	blood:
3	chr5:96323172..96325387-chr5:96328934..96331521,2	K562	blood:

Variant related genes	Relation type
ENSG00000113441	chromatin interactions
ENSG00000247121	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs38037	chr5:96324199-96324200	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149896018	chr5:96324200-96324201	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs566661833	chr5:96324283-96324284	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569580277	chr5:96324347-96324348	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs188495847	chr5:96324352-96324353	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs148970034	chr5:96324426-96324427	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192477844	chr5:96324431-96324432	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs142917399	chr5:96324507-96324508	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs184782346	chr5:96324556-96324557	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs575131413	chr5:96324566-96324567	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs535683134	chr5:96324598-96324599	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs187992745	chr5:96324607-96324608	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs554297057	chr5:96324622-96324623	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs78884678	chr5:96324717-96324718	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs545677112	chr5:96324725-96324726	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs546442861	chr5:96324778-96324779	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537270256	chr5:96324780-96324781	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs576408715	chr5:96324822-96324823	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs539724161	chr5:96324837-96324838	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200328291	chr5:96324922-96324923	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs556851533	chr5:96324933-96324934	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191240619	chr5:96324943-96324944	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs562233887	chr5:96324951-96324952	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs71582375	chr5:96324958-96324959	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529752762	chr5:96324960-96324961	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs71654352	chr5:96324980-96324981	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs71654353	chr5:96324986-96324987	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs166139	chr5:96324987-96324988	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs166140	chr5:96325004-96325005	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs173732	chr5:96325012-96325013	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs201866654	chr5:96325017-96325018	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs251851	chr5:96325018-96325019	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
33	rs201994749	chr5:96325022-96325023	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs200075523	chr5:96325024-96325025	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs373385028	chr5:96325026-96325027	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201055010	chr5:96325032-96325033	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs552481980	chr5:96325040-96325041	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs570885389	chr5:96325042-96325043	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs11953041	chr5:96325049-96325050	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs567936007	chr5:96325050-96325051	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs538238298	chr5:96325055-96325056	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs550160830	chr5:96325056-96325057	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568467445	chr5:96325061-96325062	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs557420749	chr5:96325063-96325064	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs535919175	chr5:96325069-96325070	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs61477191	chr5:96325070-96325071	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
47	rs557008732	chr5:96325072-96325073	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559598633	chr5:96325077-96325078	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs554091323	chr5:96325079-96325080	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs9918183	chr5:96325086-96325087	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance

Variant related diseases (count:81)

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
Basal cell lymphoma	17053054	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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96304600-96329600	Weak transcription	Fetal Brain Female	brain
2	chr5:96304600-96335600	Weak transcription	Stomach Mucosa	stomach
3	chr5:96304800-96346600	Weak transcription	Lung	lung
4	chr5:96304800-96359600	Weak transcription	Hela-S3	cervix
5	chr5:96305400-96334200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:96313200-96325400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:96313200-96330000	Weak transcription	HSMMtube	muscle
8	chr5:96313400-96342600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:96313400-96342600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:96314000-96360200	Weak transcription	Fetal Brain Male	brain
11	chr5:96314200-96343600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr5:96314200-96344000	Strong transcription	Primary B cells from cord blood	blood
13	chr5:96314200-96347600	Strong transcription	Fetal Thymus	thymus
14	chr5:96314400-96343800	Strong transcription	Dnd41	blood
15	chr5:96314800-96343200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:96314800-96343800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr5:96315000-96331000	Strong transcription	Placenta	Placenta
18	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:96315600-96326000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:96315600-96329200	Weak transcription	Brain Germinal Matrix	brain
21	chr5:96315600-96329600	Weak transcription	Esophagus	oesophagus
22	chr5:96315600-96329600	Weak transcription	HepG2	liver
23	chr5:96315600-96330400	Weak transcription	Spleen	Spleen
24	chr5:96315600-96335600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:96315600-96353400	Weak transcription	Pancreas	Pancrea
26	chr5:96315600-96358600	Weak transcription	Brain Substantia Nigra	brain
27	chr5:96316000-96329600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:96316000-96330000	Weak transcription	Brain Anterior Caudate	brain
29	chr5:96316000-96338400	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:96316000-96360000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:96316200-96335800	Weak transcription	NHLF	lung
32	chr5:96316400-96333600	Weak transcription	HUVEC	blood vessel
33	chr5:96316400-96336000	Weak transcription	Colonic Mucosa	Colon
34	chr5:96316400-96346600	Weak transcription	NH-A	brain
35	chr5:96317000-96325800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr5:96317200-96332600	Strong transcription	GM12878-XiMat	blood
37	chr5:96317400-96334400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:96318000-96325800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:96318000-96330000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:96318400-96325600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:96319000-96325800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:96319600-96326800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:96319800-96331600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr5:96320000-96330400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:96320000-96357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:96320600-96327000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:96320600-96330600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:96320800-96332200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr5:96321000-96324200	Strong transcription	HMEC	breast
50	chr5:96321000-96324600	Strong transcription	Primary T cells from cord blood	blood

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