Variant report

Variant	esv3325386
Chromosome Location	chr5:74729969-74730480
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	chr5:74728841..74731298-chr5:74732916..74734821,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370209071	chr5:74730011-74730012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545381638	chr5:74730012-74730013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576917679	chr5:74730030-74730031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181108420	chr5:74730075-74730076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528243423	chr5:74730079-74730080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113652279	chr5:74730114-74730115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186746842	chr5:74730151-74730152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531759421	chr5:74730158-74730159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375263677	chr5:74730188-74730189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562049037	chr5:74730196-74730197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61627934	chr5:74730200-74730201	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs547572799	chr5:74730251-74730252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112490754	chr5:74730257-74730258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10473973	chr5:74730306-74730307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs370128306	chr5:74730311-74730312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550080147	chr5:74730331-74730332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201158326	chr5:74730342-74730343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs36104420	chr5:74730343-74730344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189944245	chr5:74730357-74730358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535729724	chr5:74730367-74730368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181938401	chr5:74730368-74730369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73120804	chr5:74730376-74730377	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373535347	chr5:74730419-74730420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141592770	chr5:74730420-74730421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149980942	chr5:74730429-74730430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145424244	chr5:74730440-74730441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185369641	chr5:74730464-74730465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62366596	chr5:74730480-74730481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	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
Hepatocellular carcinoma	16750200	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	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
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74656800-74731400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:74670800-74731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
4	chr5:74677600-74734200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:74677800-74731400	Weak transcription	Aorta	Aorta
6	chr5:74678000-74730800	Weak transcription	Psoas Muscle	Psoas
7	chr5:74684000-74731200	Weak transcription	HSMMtube	muscle
8	chr5:74699600-74731200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:74706000-74731400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:74706200-74756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:74708400-74746000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:74709600-74732000	Weak transcription	Spleen	Spleen
13	chr5:74709600-74760200	Weak transcription	Gastric	stomach
14	chr5:74713200-74753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:74714400-74731600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:74718800-74742200	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:74719000-74731400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:74721000-74731400	Weak transcription	Fetal Intestine Small	intestine
19	chr5:74721000-74731600	Weak transcription	Fetal Stomach	stomach
20	chr5:74721200-74731400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:74721400-74730000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:74721400-74731200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:74721400-74731200	Weak transcription	Ovary	ovary
24	chr5:74721400-74731400	Weak transcription	Left Ventricle	heart
25	chr5:74721400-74731400	Weak transcription	Lung	lung
26	chr5:74721400-74733400	Weak transcription	Fetal Intestine Large	intestine
27	chr5:74721400-74733400	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:74721400-74733400	Weak transcription	Small Intestine	intestine
29	chr5:74721400-74733600	Weak transcription	Right Ventricle	heart
30	chr5:74721400-74734000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:74721400-74742600	Weak transcription	Thymus	Thymus
32	chr5:74721600-74731200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:74721600-74731200	Weak transcription	HSMM	muscle
34	chr5:74721600-74736000	Weak transcription	Primary T cells from cord blood	blood
35	chr5:74721600-74741400	Weak transcription	Fetal Lung	lung
36	chr5:74721600-74742600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:74721800-74731200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:74721800-74731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:74721800-74734400	Weak transcription	HMEC	breast
40	chr5:74721800-74741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:74721800-74742600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:74721800-74749600	Weak transcription	Adipose Nuclei	Adipose
43	chr5:74722000-74731200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr5:74722000-74731600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:74722000-74732200	Weak transcription	Primary B cells from cord blood	blood
46	chr5:74722000-74737400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:74722200-74730600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:74722200-74737200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:74722200-74749800	Weak transcription	Liver	Liver
50	chr5:74722600-74731200	Weak transcription	Primary monocytes fromperipheralblood	blood

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