Variant report

Variant	nsv904225
Chromosome Location	chr15:53840665-53878948
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:53676126..53677259-chr15:53878307..53879565,6	MCF-7	breast:
2	chr15:53839734..53842688-chr15:53844777..53846540,2	K562	blood:
3	chr15:53847180..53849439-chr15:53853767..53855337,2	MCF-7	breast:
4	chr15:53764851..53765366-chr15:53878705..53879636,2	MCF-7	breast:
5	chr15:53859427..53861280-chr15:53864189..53866503,2	MCF-7	breast:
6	chr15:53839749..53842575-chr15:53848742..53851441,2	MCF-7	breast:
7	chr15:53057849..53058748-chr15:53878822..53879593,2	MCF-7	breast:
8	chr15:53839488..53841156-chr15:53845536..53848480,2	MCF-7	breast:
9	chr15:53854915..53857646-chr15:53874393..53876986,2	MCF-7	breast:
10	chr15:53854915..53857646-chr15:53874393..53876986,2	MCF-7	breast:
11	chr15:53847180..53849439-chr15:53853767..53855337,2	MCF-7	breast:
12	chr15:53859427..53861280-chr15:53864189..53866503,2	MCF-7	breast:
13	chr15:53072633..53073456-chr15:53878630..53879654,3	MCF-7	breast:
14	chr15:53871923..53873641-chr6:41038480..41041425,2	MCF-7	breast:
15	chr15:53839734..53842688-chr15:53844777..53846540,2	K562	blood:
16	chr15:53852608..53853531-chr3:63859887..63860601,2	MCF-7	breast:
17	chr15:53839488..53841156-chr15:53845536..53848480,2	MCF-7	breast:
18	chr15:53839749..53842575-chr15:53848742..53851441,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000001167	chromatin interactions
ENSG00000169856	chromatin interactions
ENSG00000124596	chromatin interactions

Extended variants
information (count: 1400 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1400 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs957284	chr15:53840665-53840666	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370695963	chr15:53840676-53840677	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150861272	chr15:53840688-53840689	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73406229	chr15:53840694-53840695	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562766289	chr15:53840729-53840730	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556723492	chr15:53840736-53840737	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551781768	chr15:53840744-53840745	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139283884	chr15:53840768-53840769	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370889102	chr15:53840827-53840828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554392321	chr15:53840842-53840843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397947951	chr15:53840855-53840856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs8039907	chr15:53840856-53840857	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567856812	chr15:53840859-53840860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182779630	chr15:53840883-53840884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556846140	chr15:53840896-53840897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569998668	chr15:53840982-53840983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538912785	chr15:53841026-53841027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4362338	chr15:53841027-53841028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182630474	chr15:53841043-53841044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149983696	chr15:53841051-53841052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570592672	chr15:53841066-53841067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367857091	chr15:53841100-53841101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371948611	chr15:53841158-53841159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186793917	chr15:53841186-53841187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370319478	chr15:53841194-53841195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550128729	chr15:53841232-53841233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146538625	chr15:53841259-53841260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542433781	chr15:53841331-53841332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562568125	chr15:53841337-53841338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191592385	chr15:53841338-53841339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58089322	chr15:53841343-53841344	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545296005	chr15:53841378-53841379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565283370	chr15:53841404-53841405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76700759	chr15:53841406-53841407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533042134	chr15:53841415-53841416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567633978	chr15:53841459-53841460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10220757	chr15:53841476-53841477	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs549978437	chr15:53841477-53841478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141128595	chr15:53841506-53841507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538952339	chr15:53841552-53841553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541065071	chr15:53841557-53841558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558787087	chr15:53841566-53841567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184862969	chr15:53841581-53841582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533549116	chr15:53841588-53841589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117962346	chr15:53841600-53841601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188008926	chr15:53841653-53841654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1906421	chr15:53841661-53841662	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs556414233	chr15:53841662-53841663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551548957	chr15:53841688-53841689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575543015	chr15:53841713-53841714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	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
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53839400-53840800	Strong transcription	Liver	Liver
2	chr15:53840200-53842400	Enhancers	HepG2	liver
3	chr15:53840400-53841000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr15:53840400-53842400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr15:53840800-53842000	Weak transcription	Liver	Liver
6	chr15:53840800-53842600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr15:53841000-53842400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr15:53841000-53842600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr15:53841000-53842600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr15:53841200-53842000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr15:53841200-53842200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr15:53841400-53841600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr15:53841400-53842400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:53841600-53841800	Enhancers	Duodenum Mucosa	Duodenum
15	chr15:53841800-53842200	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr15:53841800-53842600	Enhancers	Fetal Intestine Small	intestine
17	chr15:53841800-53843200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:53841800-53843800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr15:53842000-53842200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:53842000-53842400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr15:53842000-53842400	Enhancers	Liver	Liver
22	chr15:53842200-53844400	Enhancers	Duodenum Mucosa	Duodenum
23	chr15:53842400-53842600	Enhancers	Fetal Intestine Large	intestine
24	chr15:53842400-53851000	Weak transcription	Liver	Liver
25	chr15:53842600-53847200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr15:53842600-53847400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:53842600-53851000	Weak transcription	Fetal Intestine Small	intestine
28	chr15:53843200-53843400	Enhancers	Fetal Intestine Large	intestine
29	chr15:53843200-53843600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr15:53843400-53844200	Enhancers	Small Intestine	intestine
31	chr15:53843600-53852200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:53844200-53852200	Weak transcription	Small Intestine	intestine
33	chr15:53844600-53845800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:53845000-53845800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:53845400-53845600	Enhancers	Primary hematopoietic stem cells	blood
36	chr15:53845400-53845600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:53845600-53846600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:53845800-53847000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr15:53846600-53847200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:53847000-53847200	Enhancers	Primary hematopoietic stem cells	blood
41	chr15:53847000-53847800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr15:53847200-53848000	Active TSS	Primary hematopoietic stem cells	blood
43	chr15:53847200-53848000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:53847200-53848800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr15:53847200-53848800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:53847400-53848600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr15:53847800-53851800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr15:53848000-53848800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:53848000-53851000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr15:53848200-53848800	Enhancers	HUES48 Cell Line	embryonic stem cell

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