Variant report

Variant	nsv518089
Chromosome Location	chr3:135221504-135232994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:135226939..135229156-chr3:135229953..135232030,2	K562	blood:
2	chr3:134319632..134320209-chr3:135222435..135223348,2	K562	blood:
3	chr3:134857366..134857914-chr3:135222828..135223498,2	MCF-7	breast:
4	chr3:135226939..135229156-chr3:135229953..135232030,2	K562	blood:
5	chr3:134513381..134514586-chr3:135222393..135223990,13	MCF-7	breast:
6	chr3:134880013..134880813-chr3:135222472..135223108,2	MCF-7	breast:
7	chr3:135130991..135131960-chr3:135222470..135223123,2	MCF-7	breast:
8	chr3:135217363..135219573-chr3:135220450..135222728,2	MCF-7	breast:
9	chr3:134319400..134320351-chr3:135222419..135223319,2	MCF-7	breast:
10	chr3:135222795..135223348-chr3:135614058..135614678,2	MCF-7	breast:
11	chr3:134513166..134514322-chr3:135222261..135223395,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154928	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6789221	chr3:135221504-135221505	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114213047	chr3:135221520-135221521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533161804	chr3:135221533-135221534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570193815	chr3:135221563-135221564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371467903	chr3:135221573-135221574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540006210	chr3:135221575-135221576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75736061	chr3:135221577-135221578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539314654	chr3:135221578-135221579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74631545	chr3:135221615-135221616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373820980	chr3:135221676-135221677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190107342	chr3:135221680-135221681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181456133	chr3:135221697-135221698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114831093	chr3:135221699-135221700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571209234	chr3:135221713-135221714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559014081	chr3:135221714-135221715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534427926	chr3:135221754-135221755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554039848	chr3:135221769-135221770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6439569	chr3:135221827-135221828	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs34693029	chr3:135221892-135221893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556257288	chr3:135221916-135221917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17246773	chr3:135221968-135221969	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs115951619	chr3:135222033-135222034	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs186490978	chr3:135222180-135222181	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs140706611	chr3:135222227-135222228	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs372164192	chr3:135222232-135222233	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs142758831	chr3:135222234-135222235	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs572419818	chr3:135222250-135222251	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs540436128	chr3:135222265-135222266	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560073086	chr3:135222278-135222279	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529229458	chr3:135222290-135222291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533486396	chr3:135222297-135222298	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111854459	chr3:135222304-135222305	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555070918	chr3:135222370-135222371	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542937494	chr3:135222464-135222465	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148746801	chr3:135222546-135222547	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531339190	chr3:135222547-135222548	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs190912556	chr3:135222568-135222569	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571336954	chr3:135222571-135222572	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs527381904	chr3:135222572-135222573	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547999020	chr3:135222623-135222624	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs567516796	chr3:135222645-135222646	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs73229927	chr3:135222649-135222650	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs556448328	chr3:135222654-135222655	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569968747	chr3:135222686-135222687	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182738526	chr3:135222741-135222742	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558643866	chr3:135222843-135222844	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs16843041	chr3:135222871-135222872	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534783350	chr3:135222921-135222922	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554052922	chr3:135222934-135222935	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376878775	chr3:135222981-135222982	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135210600-135222600	Weak transcription	Psoas Muscle	Psoas
2	chr3:135221400-135221800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:135221400-135221800	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:135221400-135222000	Enhancers	Fetal Brain Male	brain
5	chr3:135221400-135222400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr3:135221400-135223400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:135221600-135222000	Enhancers	Brain Germinal Matrix	brain
8	chr3:135221800-135222000	Enhancers	Fetal Brain Female	brain
9	chr3:135221800-135222200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr3:135221800-135223000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:135222000-135222200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:135222000-135222400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:135222000-135222400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:135222000-135222400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:135222000-135222600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr3:135222000-135222800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr3:135222000-135222800	Flanking Active TSS	Fetal Brain Male	brain
18	chr3:135222000-135222800	Flanking Active TSS	Fetal Brain Female	brain
19	chr3:135222000-135223000	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr3:135222200-135222400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:135222200-135222400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:135222200-135222400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:135222200-135222800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:135222200-135222800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr3:135222200-135222800	Enhancers	Primary B cells from peripheral blood	blood
26	chr3:135222200-135222800	Enhancers	GM12878-XiMat	blood
27	chr3:135222200-135223200	Active TSS	Brain Cingulate Gyrus	brain
28	chr3:135222400-135222600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr3:135222400-135222600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:135222400-135222600	Active TSS	Brain Anterior Caudate	brain
31	chr3:135222400-135222600	Active TSS	Brain Substantia Nigra	brain
32	chr3:135222400-135222600	Bivalent Enhancer	Hela-S3	cervix
33	chr3:135222400-135222800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr3:135222400-135222800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
35	chr3:135222400-135222800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr3:135222400-135222800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr3:135222400-135222800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr3:135222400-135222800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:135222400-135222800	Active TSS	Brain Angular Gyrus	brain
40	chr3:135222400-135222800	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr3:135222400-135222800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr3:135222400-135223000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr3:135222400-135223000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr3:135222400-135223400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:135222600-135222800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr3:135222600-135222800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:135222600-135222800	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr3:135222600-135222800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr3:135222600-135222800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:135222600-135222800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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