Variant report

Variant	esv2760398
Chromosome Location	chr15:60208658-60243534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:60209402..60209959-chr15:60419488..60420024,3	MCF-7	breast:
2	chr15:60209749..60210266-chr15:60618767..60619600,2	MCF-7	breast:
3	chr15:60217870..60219705-chr15:60223973..60225878,2	MCF-7	breast:
4	chr15:60209756..60210383-chr15:60618737..60619952,3	K562	blood:
5	chr15:60217870..60219705-chr15:60223973..60225878,2	MCF-7	breast:
6	chr15:60228860..60230687-chr15:60243580..60246151,2	K562	blood:

Extended variants
information (count: 1448 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1448 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17302860	chr15:60208658-60208659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116590583	chr15:60208659-60208660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539242708	chr15:60208660-60208661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557865656	chr15:60208699-60208700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576439531	chr15:60208734-60208735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75342745	chr15:60208891-60208892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189611010	chr15:60208895-60208896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573656522	chr15:60208896-60208897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541792856	chr15:60208901-60208902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560078462	chr15:60208903-60208904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578232895	chr15:60208947-60208948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76415559	chr15:60208953-60208954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76776880	chr15:60208973-60208974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186189249	chr15:60209016-60209017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544164671	chr15:60209043-60209044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35532742	chr15:60209055-60209056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73419068	chr15:60209100-60209101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550234920	chr15:60209120-60209121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369138432	chr15:60209197-60209198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190906347	chr15:60209215-60209216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567636191	chr15:60209235-60209236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150559703	chr15:60209257-60209258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565623430	chr15:60209279-60209280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539102367	chr15:60209306-60209307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139574222	chr15:60209313-60209314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201640446	chr15:60209354-60209355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551135180	chr15:60209389-60209390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377648284	chr15:60209403-60209404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149786115	chr15:60209442-60209443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77008251	chr15:60209467-60209468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183528024	chr15:60209520-60209521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115879491	chr15:60209553-60209554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374908771	chr15:60209603-60209604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28716440	chr15:60209607-60209608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573990531	chr15:60209618-60209619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576353440	chr15:60209688-60209689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144744662	chr15:60209743-60209744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553727874	chr15:60209753-60209754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545389662	chr15:60209756-60209757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116165237	chr15:60209791-60209792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2912117	chr15:60209792-60209793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs576092716	chr15:60209813-60209814	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs185235194	chr15:60209814-60209815	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs190026798	chr15:60209843-60209844	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs182944336	chr15:60209891-60209892	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs533648429	chr15:60209922-60209923	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs28564091	chr15:60209946-60209947	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs78344523	chr15:60209954-60209955	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs368824852	chr15:60209961-60209962	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs546968082	chr15:60209965-60209966	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:60197200-60209600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:60202400-60209600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr15:60206000-60209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr15:60209600-60209800	Enhancers	Fetal Thymus	thymus
5	chr15:60209600-60209800	Enhancers	HMEC	breast
6	chr15:60209600-60210200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:60209600-60210200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr15:60209600-60210200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:60209600-60210400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr15:60209600-60210400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr15:60209600-60210400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr15:60209600-60210400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:60209600-60210600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr15:60209600-60210600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr15:60209600-60210600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr15:60209600-60211400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr15:60209600-60212600	Enhancers	Dnd41	blood
18	chr15:60209800-60210000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr15:60209800-60210000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:60209800-60210000	Bivalent Enhancer	Brain Substantia Nigra	brain
21	chr15:60209800-60210200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:60209800-60210200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr15:60209800-60210400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr15:60209800-60210400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:60209800-60212800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr15:60210000-60210200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr15:60210000-60210200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:60210000-60210200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:60210000-60210200	Enhancers	Brain Substantia Nigra	brain
30	chr15:60210000-60210400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:60210000-60210400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr15:60210000-60211000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr15:60210000-60211400	Weak transcription	HMEC	breast
34	chr15:60210000-60212400	Enhancers	Primary T cells from cord blood	blood
35	chr15:60210200-60210400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:60210200-60210600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr15:60210200-60210600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr15:60210200-60211400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:60210200-60211400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr15:60210200-60211400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr15:60210200-60211600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr15:60210200-60211600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr15:60210400-60210600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:60210400-60211200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr15:60210400-60211400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:60210400-60211400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:60210400-60211600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr15:60210400-60211600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:60210400-60211600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr15:60210600-60211000	Enhancers	Brain Germinal Matrix	brain

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