Variant report

Variant	nsv877545
Chromosome Location	chr3:139738645-139821310
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:139776169..139778680-chr3:139779379..139780990,2	MCF-7	breast:
2	chr3:139700959..139701745-chr3:139770128..139770877,2	MCF-7	breast:
3	chr3:139656013..139657182-chr3:139769630..139770896,8	MCF-7	breast:
4	chr3:139748751..139750480-chr3:139751561..139754135,2	MCF-7	breast:
5	chr3:139785493..139788234-chr3:139790501..139793200,2	K562	blood:
6	chr3:139785493..139788234-chr3:139790501..139793200,2	K562	blood:
7	chr3:139713121..139716043-chr3:139741929..139744858,2	K562	blood:
8	chr3:139748751..139750480-chr3:139751561..139754135,2	MCF-7	breast:
9	chr3:139435753..139436447-chr3:139770298..139770858,2	MCF-7	breast:
10	chr3:139811749..139812473-chr3:139934801..139935433,2	MCF-7	breast:
11	chr3:139818128..139821067-chr3:139825810..139829205,3	K562	blood:
12	chr3:139682760..139685173-chr3:139765720..139767567,2	K562	blood:
13	chr3:139813704..139816567-chr3:139818666..139821218,2	K562	blood:
14	chr3:139701206..139701879-chr3:139769975..139770873,4	MCF-7	breast:
15	chr3:139751388..139753284-chr3:139756083..139758554,2	MCF-7	breast:
16	chr3:139777968..139779896-chr3:139782789..139784632,2	MCF-7	breast:
17	chr3:139768738..139770992-chr3:139772368..139773876,2	MCF-7	breast:
18	chr3:139811764..139812310-chr3:139934838..139935561,2	MCF-7	breast:
19	chr3:139738986..139741463-chr3:139766762..139768876,2	K562	blood:
20	chr3:139751388..139753284-chr3:139756083..139758554,2	MCF-7	breast:
21	chr3:139775648..139778022-chr3:139784434..139786771,2	MCF-7	breast:
22	chr3:139775648..139778022-chr3:139784434..139786771,2	MCF-7	breast:
23	chr3:139656303..139657655-chr3:139769773..139770917,9	MCF-7	breast:
24	chr3:139776169..139778680-chr3:139779379..139780990,2	MCF-7	breast:
25	chr3:139777968..139779896-chr3:139782789..139784632,2	MCF-7	breast:
26	chr3:139741182..139743256-chr3:139752088..139754164,2	K562	blood:
27	chr3:139657365..139658949-chr3:139769085..139770688,5	MCF-7	breast:
28	chr3:139812354..139813315-chr3:139925264..139926151,2	MCF-7	breast:
29	chr3:139813704..139816567-chr3:139818666..139821218,2	K562	blood:
30	chr3:139775503..139777768-chr3:139781143..139783400,2	K562	blood:
31	chr3:139775503..139777768-chr3:139781143..139783400,2	K562	blood:
32	chr3:139768738..139770992-chr3:139772368..139773876,2	MCF-7	breast:
33	chr3:139738986..139741463-chr3:139766762..139768876,2	K562	blood:
34	chr3:139436698..139437886-chr3:139769877..139770897,3	MCF-7	breast:
35	chr3:139741182..139743256-chr3:139752088..139754164,2	K562	blood:

No data

Extended variants
information (count: 3209 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:3209 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10433430	chr3:139738645-139738646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143635719	chr3:139738662-139738663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188500323	chr3:139738676-139738677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540126222	chr3:139738692-139738693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553282519	chr3:139738769-139738770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs16849694	chr3:139738782-139738783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs146783657	chr3:139738807-139738808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534550359	chr3:139738899-139738900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552999757	chr3:139738938-139738939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181343754	chr3:139738970-139738971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185767778	chr3:139738982-139738983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563264057	chr3:139739008-139739009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191734625	chr3:139739051-139739052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542474640	chr3:139739058-139739059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183745034	chr3:139739105-139739106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150369992	chr3:139739108-139739109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138071294	chr3:139739137-139739138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149089549	chr3:139739205-139739206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532407127	chr3:139739215-139739216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371507800	chr3:139739230-139739231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551032180	chr3:139739242-139739243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145912347	chr3:139739247-139739248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs16849696	chr3:139739269-139739270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548500733	chr3:139739336-139739337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1895857	chr3:139739376-139739377	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs187086925	chr3:139739422-139739423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551375843	chr3:139739511-139739512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192313387	chr3:139739512-139739513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571239636	chr3:139739517-139739518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182129639	chr3:139739595-139739596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147361624	chr3:139739611-139739612	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs556981690	chr3:139739614-139739615	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs575255216	chr3:139739631-139739632	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs542762921	chr3:139739638-139739639	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs554341576	chr3:139739669-139739670	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs572744590	chr3:139739684-139739685	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540121398	chr3:139739692-139739693	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566410122	chr3:139739700-139739701	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs575644669	chr3:139739725-139739726	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs564864012	chr3:139739735-139739736	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs532510272	chr3:139739748-139739749	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs147976099	chr3:139739756-139739757	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs141615484	chr3:139739760-139739761	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs9844385	chr3:139739779-139739780	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs368169278	chr3:139739792-139739793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs200549884	chr3:139739810-139739811	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs186950238	chr3:139739826-139739827	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs191774193	chr3:139739828-139739829	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs552872853	chr3:139739845-139739846	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs571174299	chr3:139739861-139739862	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Ependymoma	20639864	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Dyslexia	22102821	CNVD

Chromatin state (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139714400-139741200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:139732000-139739200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:139732400-139741200	Weak transcription	Fetal Brain Female	brain
4	chr3:139732400-139742600	Weak transcription	HSMMtube	muscle
5	chr3:139732800-139740200	Weak transcription	Brain Angular Gyrus	brain
6	chr3:139733000-139739200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:139734200-139739200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:139734400-139738800	Weak transcription	Brain Substantia Nigra	brain
9	chr3:139736000-139741800	Weak transcription	Spleen	Spleen
10	chr3:139737200-139739600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:139737600-139738800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:139737600-139740800	Weak transcription	Ovary	ovary
13	chr3:139738200-139738800	Enhancers	Fetal Brain Male	brain
14	chr3:139738400-139738800	Enhancers	Aorta	Aorta
15	chr3:139738600-139743600	Enhancers	Brain Hippocampus Middle	brain
16	chr3:139738800-139739000	Enhancers	Brain Anterior Caudate	brain
17	chr3:139738800-139739000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:139738800-139739200	Weak transcription	Fetal Brain Male	brain
19	chr3:139738800-139739600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:139738800-139742000	Weak transcription	Aorta	Aorta
21	chr3:139738800-139743200	Enhancers	Brain Substantia Nigra	brain
22	chr3:139739000-139739200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr3:139739000-139740400	Weak transcription	Brain Anterior Caudate	brain
24	chr3:139739200-139739400	Enhancers	Brain Cingulate Gyrus	brain
25	chr3:139739200-139739400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:139739200-139739400	Enhancers	Fetal Brain Male	brain
27	chr3:139739200-139739600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr3:139739200-139743600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr3:139739400-139739600	Enhancers	Stomach Smooth Muscle	stomach
30	chr3:139739400-139739800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:139739400-139739800	Enhancers	Brain Germinal Matrix	brain
32	chr3:139739400-139739800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:139739400-139740800	Weak transcription	Fetal Brain Male	brain
34	chr3:139739600-139740000	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr3:139739600-139741000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:139739600-139754400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:139739800-139741200	Weak transcription	Brain Germinal Matrix	brain
38	chr3:139739800-139743600	Enhancers	Brain Cingulate Gyrus	brain
39	chr3:139739800-139743600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:139740000-139740400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:139740000-139740800	Enhancers	NHEK	skin
42	chr3:139740000-139743400	Enhancers	Stomach Smooth Muscle	stomach
43	chr3:139740200-139743600	Enhancers	Brain Angular Gyrus	brain
44	chr3:139740400-139743400	Enhancers	Brain Anterior Caudate	brain
45	chr3:139740600-139743600	Enhancers	Colon Smooth Muscle	Colon
46	chr3:139740800-139741200	Enhancers	Fetal Muscle Trunk	muscle
47	chr3:139740800-139743000	Enhancers	Fetal Brain Male	brain
48	chr3:139740800-139743600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr3:139740800-139744800	Enhancers	Ovary	ovary
50	chr3:139741000-139741400	Enhancers	Left Ventricle	heart

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