Variant report

Variant	esv275017
Chromosome Location	chr15:60155312-60159639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:60153893..60157784-chr15:60158448..60161245,3	MCF-7	breast:
2	chr15:60155197..60155697-chr2:160142740..160143332,2	NB4	blood:
3	chr15:60153893..60157784-chr15:60158448..60161245,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196151	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74016300	chr15:60155313-60155314	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542610810	chr15:60155314-60155315	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560903711	chr15:60155315-60155316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572914101	chr15:60155343-60155344	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540884339	chr15:60155397-60155398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565458657	chr15:60155416-60155417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374710368	chr15:60155417-60155418	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs34427978	chr15:60155427-60155428	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532715564	chr15:60155465-60155466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112934216	chr15:60155497-60155498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563362099	chr15:60155498-60155499	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77682314	chr15:60155552-60155553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567230714	chr15:60155583-60155584	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140709888	chr15:60155589-60155590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs546850873	chr15:60155591-60155592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184664969	chr15:60155595-60155596	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189164424	chr15:60155622-60155623	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181878366	chr15:60155636-60155637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568717039	chr15:60155646-60155647	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562605261	chr15:60155657-60155658	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536309586	chr15:60155661-60155662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554656320	chr15:60155679-60155680	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs56177864	chr15:60159025-60159026	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533186589	chr15:60159035-60159036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184524389	chr15:60159047-60159048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563666659	chr15:60159050-60159051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530992518	chr15:60159064-60159065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs893268	chr15:60159070-60159071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs893267	chr15:60159074-60159075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535494595	chr15:60159110-60159111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547192579	chr15:60159190-60159191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565644189	chr15:60159225-60159226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563894624	chr15:60159230-60159231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532718939	chr15:60159285-60159286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558070434	chr15:60159298-60159299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576448738	chr15:60159329-60159330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4774347	chr15:60159356-60159357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555551193	chr15:60159368-60159369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147778800	chr15:60159373-60159374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs58921389	chr15:60159451-60159452	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs559613177	chr15:60159452-60159453	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs4775219	chr15:60159490-60159491	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs188500708	chr15:60159582-60159583	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs527330294	chr15:60159597-60159598	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs111566221	chr15:60159605-60159606	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs545106654	chr15:60159606-60159607	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs377709780	chr15:60159620-60159621	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs531063760	chr15:60159634-60159635	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs11633633	chr15:60159639-60159640	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:60159000-60159400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr15:60159000-60159800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr15:60159200-60159600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr15:60159200-60159600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr15:60159200-60159600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr15:60159200-60159800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:60159200-60159800	Enhancers	Fetal Brain Male	brain
8	chr15:60159400-60159800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:60159400-60159800	Enhancers	Fetal Brain Female	brain
10	chr15:60159600-60159800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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