Variant report

Variant	esv3431813
Chromosome Location	chr3:134255579-134256174
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	chr3:134246398..134248873-chr3:134254340..134256728,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562364715	chr3:134255583-134255584	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191011247	chr3:134255691-134255692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143787132	chr3:134255713-134255714	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79710428	chr3:134255751-134255752	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77536510	chr3:134255754-134255755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565589413	chr3:134255763-134255764	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183279766	chr3:134255770-134255771	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548199533	chr3:134255771-134255772	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568329141	chr3:134255800-134255801	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537266720	chr3:134255840-134255841	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557222483	chr3:134255894-134255895	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570645734	chr3:134255923-134255924	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368026198	chr3:134255924-134255925	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539589049	chr3:134255933-134255934	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374262905	chr3:134255946-134255947	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201316330	chr3:134256004-134256005	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553384484	chr3:134256007-134256008	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573165993	chr3:134256011-134256012	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147553684	chr3:134256033-134256034	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202055421	chr3:134256034-134256035	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542172267	chr3:134256040-134256041	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148139450	chr3:134256054-134256055	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141971702	chr3:134256059-134256060	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187494453	chr3:134256069-134256070	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114108011	chr3:134256110-134256111	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370527512	chr3:134256141-134256142	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564376689	chr3:134256143-134256144	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372902416	chr3:134256158-134256159	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12634127	chr3:134256159-134256160	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:52)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134225000-134255800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr3:134225200-134256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:134230800-134256000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:134231200-134255800	Weak transcription	Placenta	Placenta
5	chr3:134236200-134256400	Weak transcription	A549	lung
6	chr3:134236200-134267000	Weak transcription	HSMM	muscle
7	chr3:134237000-134256000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:134237000-134256200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:134242600-134256200	Weak transcription	NHEK	skin
10	chr3:134244800-134256000	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:134244800-134269600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:134245000-134255800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:134245000-134255800	Weak transcription	Fetal Intestine Small	intestine
14	chr3:134246000-134256200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:134246000-134256200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:134246200-134255800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:134246200-134280800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:134246400-134255800	Weak transcription	Spleen	Spleen
19	chr3:134246400-134256000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:134246400-134256000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:134246400-134265400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:134246600-134255800	Weak transcription	Gastric	stomach
23	chr3:134246600-134255800	Weak transcription	Pancreas	Pancrea
24	chr3:134246600-134255800	Weak transcription	NHDF-Ad	bronchial
25	chr3:134246600-134256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:134246600-134269200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:134246600-134281800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:134246800-134255800	Weak transcription	Fetal Stomach	stomach
29	chr3:134247000-134255800	Weak transcription	Lung	lung
30	chr3:134247200-134255800	Weak transcription	Esophagus	oesophagus
31	chr3:134247600-134256200	Weak transcription	Right Ventricle	heart
32	chr3:134248600-134256400	Weak transcription	Brain Germinal Matrix	brain
33	chr3:134249400-134265200	Weak transcription	Osteobl	bone
34	chr3:134249600-134268600	Weak transcription	Fetal Kidney	kidney
35	chr3:134249800-134265200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:134250000-134256000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:134250000-134256000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr3:134250000-134256000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:134250200-134255800	Weak transcription	Brain Substantia Nigra	brain
40	chr3:134250200-134256200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:134250400-134256000	Weak transcription	HepG2	liver
42	chr3:134250400-134256200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr3:134250400-134269400	Weak transcription	Psoas Muscle	Psoas
44	chr3:134250400-134269600	Weak transcription	HMEC	breast
45	chr3:134250400-134282000	Weak transcription	Stomach Mucosa	stomach
46	chr3:134250600-134257200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr3:134250600-134259000	Strong transcription	Fetal Thymus	thymus
48	chr3:134250800-134256200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:134250800-134265200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr3:134251000-134256000	Weak transcription	Fetal Brain Male	brain

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