Variant report

Variant	nsv974574
Chromosome Location	chr15:49752716-49764974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:49759384..49762245-chr15:49912531..49914153,2	MCF-7	breast:
2	chr15:49753086..49754670-chr15:49761846..49764653,2	MCF-7	breast:
3	chr15:49763327..49764266-chr15:50295694..50296534,2	K562	blood:
4	chr15:49763251..49764501-chr15:50295657..50296544,5	MCF-7	breast:
5	chr15:49760434..49762831-chr15:49768683..49770217,2	MCF-7	breast:
6	chr15:49753086..49754670-chr15:49761846..49764653,2	MCF-7	breast:
7	chr15:49740094..49742331-chr15:49762242..49764123,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104047	chromatin interactions
ENSG00000166262	chromatin interactions

Extended variants
information (count: 401 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542419196	chr15:49752733-49752734	Genic enhancers Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561041287	chr15:49752745-49752746	Genic enhancers Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182448546	chr15:49752750-49752751	Genic enhancers Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549767342	chr15:49752769-49752770	Genic enhancers Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186887003	chr15:49752915-49752916	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532696206	chr15:49752943-49752944	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547683752	chr15:49752956-49752957	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191723747	chr15:49753250-49753251	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375372878	chr15:49753276-49753277	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564049377	chr15:49753311-49753312	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546194602	chr15:49753335-49753336	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149600057	chr15:49753345-49753346	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184988262	chr15:49753431-49753432	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17479589	chr15:49753532-49753533	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs538980390	chr15:49753543-49753544	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558613192	chr15:49753601-49753602	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543276024	chr15:49753611-49753612	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202061190	chr15:49753628-49753629	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188845648	chr15:49753635-49753636	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76917872	chr15:49753647-49753648	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560885047	chr15:49753650-49753651	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576123470	chr15:49753656-49753657	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543131859	chr15:49753681-49753682	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564587288	chr15:49753717-49753718	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531973519	chr15:49753746-49753747	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193089043	chr15:49753759-49753760	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564490892	chr15:49753761-49753762	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576750243	chr15:49753762-49753763	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548777226	chr15:49753768-49753769	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371607902	chr15:49753791-49753792	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570133592	chr15:49753816-49753817	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537579660	chr15:49753847-49753848	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185833862	chr15:49753853-49753854	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570897897	chr15:49753902-49753903	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535021074	chr15:49753906-49753907	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188209466	chr15:49754032-49754033	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572387254	chr15:49754035-49754036	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536143227	chr15:49754037-49754038	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373601497	chr15:49754133-49754134	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576155260	chr15:49754134-49754135	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180768590	chr15:49754148-49754149	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552946919	chr15:49754195-49754196	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139936899	chr15:49754246-49754247	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574151959	chr15:49754270-49754271	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576481457	chr15:49754361-49754362	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183845924	chr15:49754378-49754379	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558885467	chr15:49754396-49754397	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541525000	chr15:49754409-49754410	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs28430272	chr15:49754451-49754452	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188509067	chr15:49754517-49754518	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49747400-49753000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr15:49749200-49753600	Weak transcription	Fetal Lung	lung
3	chr15:49750000-49753400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr15:49750200-49752800	Enhancers	Rectal Smooth Muscle	rectum
5	chr15:49750200-49752800	Enhancers	NHLF	lung
6	chr15:49750400-49754200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:49750600-49754600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:49750800-49753400	Weak transcription	Hela-S3	cervix
9	chr15:49751200-49753200	Enhancers	Ovary	ovary
10	chr15:49751400-49752800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:49751400-49753200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:49751600-49753600	Weak transcription	HSMMtube	muscle
13	chr15:49752000-49753200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:49752200-49753000	Weak transcription	Colon Smooth Muscle	Colon
15	chr15:49752400-49754000	Weak transcription	Psoas Muscle	Psoas
16	chr15:49752400-49755000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:49752400-49764000	Weak transcription	HSMM	muscle
18	chr15:49752600-49753400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:49752600-49753600	Weak transcription	Adipose Nuclei	Adipose
20	chr15:49752600-49753800	Genic enhancers	Osteobl	bone
21	chr15:49752600-49755400	Enhancers	Fetal Heart	heart
22	chr15:49752600-49755800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:49752600-49758200	Enhancers	NHDF-Ad	bronchial
24	chr15:49752800-49753200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:49752800-49754200	Weak transcription	NHLF	lung
26	chr15:49752800-49757800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:49753000-49753200	Enhancers	Colon Smooth Muscle	Colon
28	chr15:49753000-49753400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:49753000-49756000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr15:49753200-49753400	Enhancers	Rectal Smooth Muscle	rectum
31	chr15:49753200-49753600	Weak transcription	Colon Smooth Muscle	Colon
32	chr15:49753200-49753800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:49753200-49754000	Weak transcription	Ovary	ovary
34	chr15:49753200-49754400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr15:49753200-49754600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:49753200-49758800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:49753400-49753800	Enhancers	Hela-S3	cervix
38	chr15:49753400-49754200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr15:49753400-49754600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:49753400-49755000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:49753600-49753800	Enhancers	Fetal Kidney	kidney
42	chr15:49753600-49754200	Enhancers	Adipose Nuclei	Adipose
43	chr15:49753600-49754400	Enhancers	HSMMtube	muscle
44	chr15:49753600-49755000	Enhancers	Fetal Lung	lung
45	chr15:49753600-49756400	Enhancers	Colon Smooth Muscle	Colon
46	chr15:49753800-49754600	Weak transcription	Osteobl	bone
47	chr15:49753800-49756800	Weak transcription	Fetal Kidney	kidney
48	chr15:49753800-49758400	Weak transcription	Hela-S3	cervix
49	chr15:49754000-49754200	Enhancers	Psoas Muscle	Psoas
50	chr15:49754000-49754200	Enhancers	Right Atrium	heart

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