Variant report

Variant	esv3336755
Chromosome Location	chr3:67498869-67499342
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	chr3:67498464..67501413-chr3:67503941..67505935,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556675971	chr3:67498884-67498885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540893138	chr3:67498893-67498894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138469596	chr3:67498894-67498895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191537279	chr3:67498916-67498917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535916893	chr3:67498945-67498946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28688196	chr3:67498949-67498950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544855235	chr3:67498969-67498970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188468205	chr3:67499024-67499025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545724663	chr3:67499041-67499042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558983425	chr3:67499080-67499081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575822810	chr3:67499088-67499089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144322570	chr3:67499129-67499130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561431712	chr3:67499134-67499135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530237316	chr3:67499162-67499163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115290660	chr3:67499163-67499164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7620816	chr3:67499185-67499186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs141660089	chr3:67499223-67499224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76038322	chr3:67499251-67499252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571438127	chr3:67499252-67499253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530684808	chr3:67499266-67499267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67435600-67509800	Weak transcription	Ovary	ovary
2	chr3:67435600-67534200	Weak transcription	Aorta	Aorta
3	chr3:67466600-67508400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:67471200-67503800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:67471600-67518800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:67472000-67506200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:67472000-67509800	Weak transcription	HSMM	muscle
8	chr3:67473400-67521000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr3:67473600-67542000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:67478200-67512200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:67482600-67527200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:67482600-67528600	Weak transcription	GM12878-XiMat	blood
13	chr3:67482800-67503800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr3:67482800-67520800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr3:67482800-67533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:67484000-67511400	Weak transcription	Fetal Lung	lung
17	chr3:67485800-67503800	Weak transcription	Primary B cells from cord blood	blood
18	chr3:67486800-67506000	Weak transcription	Primary T cells from cord blood	blood
19	chr3:67487000-67518600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:67487800-67503400	Weak transcription	Liver	Liver
21	chr3:67487800-67512200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:67488000-67544200	Weak transcription	A549	lung
23	chr3:67488400-67566400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:67490200-67511800	Weak transcription	HSMMtube	muscle
25	chr3:67492200-67545400	Weak transcription	Fetal Intestine Small	intestine
26	chr3:67492400-67515400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr3:67492400-67516600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr3:67497600-67499400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:67498000-67534200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:67498600-67499800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:67499200-67499800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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