Variant report

Variant	esv3391357
Chromosome Location	chr3:20028170-20028413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20022682..20025378-chr3:20026127..20028940,2	MCF-7	breast:
2	chr3:20027470..20029591-chr3:20033923..20036338,3	K562	blood:
3	chr3:20026329..20028709-chr3:20079789..20082702,2	K562	blood:
4	chr3:20027598..20030041-chr3:20034679..20036338,2	K562	blood:
5	chr3:20027209..20028836-chr3:20081202..20083011,2	K562	blood:
6	chr3:20026744..20028391-chr3:20179736..20182279,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114166	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528120667	chr3:20028178-20028179	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540089228	chr3:20028208-20028209	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs74787170	chr3:20028212-20028213	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147196167	chr3:20028245-20028246	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs62241318	chr3:20028246-20028247	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs556024064	chr3:20028255-20028256	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550520824	chr3:20028263-20028264	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569060090	chr3:20028292-20028293	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533458268	chr3:20028302-20028303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551953996	chr3:20028321-20028322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566828241	chr3:20028339-20028340	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35851054	chr3:20028344-20028345	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200653282	chr3:20028373-20028374	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534197276	chr3:20028385-20028386	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs61111067	chr3:20028402-20028403	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20008800-20035600	Weak transcription	Psoas Muscle	Psoas
2	chr3:20012400-20033600	Weak transcription	Fetal Brain Male	brain
3	chr3:20015200-20030000	Strong transcription	Fetal Thymus	thymus
4	chr3:20015400-20028200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:20015400-20028200	Strong transcription	Placenta	Placenta
6	chr3:20021400-20028200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:20021800-20029400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:20023000-20045800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:20023400-20029000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:20024000-20031200	Weak transcription	HSMM	muscle
11	chr3:20024000-20041400	Weak transcription	Ovary	ovary
12	chr3:20024200-20028600	Weak transcription	Colonic Mucosa	Colon
13	chr3:20024200-20030600	Weak transcription	Hela-S3	cervix
14	chr3:20024200-20031000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:20024200-20031200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:20024200-20031800	Weak transcription	Left Ventricle	heart
17	chr3:20024200-20033200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:20024200-20033400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:20024200-20036800	Weak transcription	Aorta	Aorta
20	chr3:20024200-20051400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:20024400-20028600	Weak transcription	Brain Substantia Nigra	brain
22	chr3:20024400-20029000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr3:20024400-20029200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:20024400-20029800	Weak transcription	Spleen	Spleen
25	chr3:20024400-20030600	Weak transcription	Thymus	Thymus
26	chr3:20024400-20034000	Weak transcription	Brain Germinal Matrix	brain
27	chr3:20024600-20029000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:20024800-20029000	Weak transcription	Fetal Intestine Small	intestine
29	chr3:20024800-20030800	Weak transcription	Fetal Stomach	stomach
30	chr3:20024800-20031600	Weak transcription	Lung	lung
31	chr3:20024800-20031800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:20025000-20028400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr3:20025200-20028400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:20025400-20028600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:20025400-20028600	Weak transcription	GM12878-XiMat	blood
36	chr3:20025400-20029000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:20025400-20029000	Weak transcription	NHDF-Ad	bronchial
38	chr3:20025400-20029600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr3:20025400-20030600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:20025400-20031800	Weak transcription	Fetal Brain Female	brain
41	chr3:20025400-20033200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:20025600-20028400	Weak transcription	Fetal Lung	lung
43	chr3:20025600-20028600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:20025600-20028600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr3:20025600-20029000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:20025600-20029000	Weak transcription	K562	blood
47	chr3:20025600-20033400	Weak transcription	Brain Angular Gyrus	brain
48	chr3:20025800-20028400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr3:20025800-20029000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:20025800-20029200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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