Variant report

Variant	nsv967069
Chromosome Location	chr3:135874787-135875388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:135871018..135872662-chr3:135874899..135876560,2	MCF-7	breast:
2	chr3:135874998..135877491-chr3:135913896..135916002,2	MCF-7	breast:
3	chr3:135873199..135876113-chr3:135913654..135915671,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP2R3A-1	chr3:135874391-135874838	NONHSAT092274

Variant related genes	Relation type
ENSG00000174579	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542006030	chr3:135874896-135874897	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs562200848	chr3:135874907-135874908	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554049103	chr3:135874913-135874914	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs28519617	chr3:135874930-135874931	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs28669017	chr3:135874932-135874933	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150280589	chr3:135874945-135874946	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186979960	chr3:135874963-135874964	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565908394	chr3:135874969-135874970	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534812143	chr3:135874983-135874984	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs192290124	chr3:135874988-135874989	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568102830	chr3:135875128-135875129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536672487	chr3:135875161-135875162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556507531	chr3:135875193-135875194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553015583	chr3:135875195-135875196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368926823	chr3:135875204-135875205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs149407671	chr3:135875345-135875346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115298034	chr3:135875376-135875377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs59747718	chr3:135875379-135875380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:53)

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
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135831400-135874800	Weak transcription	Fetal Brain Male	brain
2	chr3:135845600-135880400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:135862000-135904800	Weak transcription	Hela-S3	cervix
4	chr3:135864200-135882400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:135864400-135882600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:135864400-135885200	Weak transcription	Brain Germinal Matrix	brain
7	chr3:135865600-135882400	Weak transcription	Fetal Heart	heart
8	chr3:135868800-135883000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:135869000-135876400	Weak transcription	HSMMtube	muscle
10	chr3:135869800-135882400	Weak transcription	Brain Angular Gyrus	brain
11	chr3:135870400-135876000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:135870400-135881000	Weak transcription	Right Atrium	heart
13	chr3:135870800-135895200	Weak transcription	Fetal Intestine Small	intestine
14	chr3:135871000-135881800	Weak transcription	Right Ventricle	heart
15	chr3:135871000-135882400	Weak transcription	Esophagus	oesophagus
16	chr3:135871000-135882400	Weak transcription	Small Intestine	intestine
17	chr3:135871000-135897600	Weak transcription	Aorta	Aorta
18	chr3:135871200-135876000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:135871200-135882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:135871200-135905000	Weak transcription	Fetal Stomach	stomach
21	chr3:135871400-135875200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:135871400-135880000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:135871400-135880200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:135871400-135882200	Weak transcription	HUVEC	blood vessel
25	chr3:135871400-135882400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:135871400-135885000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:135871400-135885000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr3:135871400-135885600	Weak transcription	Fetal Kidney	kidney
29	chr3:135871600-135875000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:135871600-135880000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:135871600-135880400	Weak transcription	Adipose Nuclei	Adipose
32	chr3:135871600-135880800	Weak transcription	Psoas Muscle	Psoas
33	chr3:135871600-135881800	Weak transcription	Brain Substantia Nigra	brain
34	chr3:135871600-135882200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:135871600-135882400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr3:135871600-135882400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:135871600-135882400	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:135871600-135883000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:135871600-135884800	Weak transcription	K562	blood
40	chr3:135871600-135885000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr3:135871800-135876400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:135871800-135877000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr3:135871800-135882200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr3:135872000-135876200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:135872000-135876600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr3:135872000-135877200	Weak transcription	Primary T cells from cord blood	blood
47	chr3:135872000-135877400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr3:135872000-135882200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:135872000-135882200	Weak transcription	Primary B cells from cord blood	blood
50	chr3:135872000-135882200	Weak transcription	Monocytes-CD14+_RO01746	blood

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