Variant report

Variant	esv3506091
Chromosome Location	chr15:42642326-42643769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42636103..42638509-chr15:42640210..42643122,3	K562	blood:

Variant related genes	Relation type
ENSG00000214013	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547101891	chr15:42642338-42642339	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs528575675	chr15:42642351-42642352	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551847059	chr15:42642357-42642358	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs28461547	chr15:42642408-42642409	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35888639	chr15:42642414-42642415	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs530895560	chr15:42642498-42642499	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549827833	chr15:42642508-42642509	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112928570	chr15:42642524-42642525	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187294111	chr15:42642593-42642594	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548744614	chr15:42642596-42642597	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192642322	chr15:42642617-42642618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs118166665	chr15:42642677-42642678	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114670925	chr15:42642691-42642692	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577572273	chr15:42642708-42642709	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184425841	chr15:42642720-42642721	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181785818	chr15:42642749-42642750	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs58748554	chr15:42642752-42642753	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76128505	chr15:42642765-42642766	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs75462691	chr15:42642768-42642769	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191767784	chr15:42642814-42642815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188910327	chr15:42642844-42642845	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs557388490	chr15:42642888-42642889	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111831216	chr15:42642894-42642895	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369797783	chr15:42642904-42642905	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2412706	chr15:42642927-42642928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs143204787	chr15:42642937-42642938	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2412707	chr15:42642941-42642942	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs565350668	chr15:42642981-42642982	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs193103841	chr15:42642982-42642983	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550936385	chr15:42642989-42642990	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536447000	chr15:42642997-42642998	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369004526	chr15:42643007-42643008	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529145545	chr15:42643058-42643059	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568334130	chr15:42643062-42643063	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376184883	chr15:42643063-42643064	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34340610	chr15:42643064-42643065	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548802810	chr15:42643083-42643084	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs3036683	chr15:42643085-42643086	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565545795	chr15:42643091-42643092	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534463349	chr15:42643132-42643133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141294793	chr15:42643133-42643134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571289049	chr15:42643134-42643135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184170006	chr15:42643145-42643146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556897401	chr15:42643169-42643170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112639686	chr15:42643170-42643171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536936348	chr15:42643211-42643212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146089613	chr15:42643242-42643243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554945158	chr15:42643285-42643286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7175863	chr15:42643287-42643288	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs547184384	chr15:42643309-42643310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Melanoma	17363583	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42568400-42656000	Weak transcription	Small Intestine	intestine
2	chr15:42603400-42648600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:42603400-42648600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:42604600-42651200	Weak transcription	Fetal Kidney	kidney
5	chr15:42617000-42645000	Weak transcription	NHLF	lung
6	chr15:42619600-42647200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr15:42619600-42656200	Weak transcription	HMEC	breast
8	chr15:42626800-42643400	Weak transcription	Fetal Thymus	thymus
9	chr15:42627600-42654600	Weak transcription	HSMM	muscle
10	chr15:42627800-42643800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr15:42630600-42650600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr15:42630800-42646800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:42631600-42648600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:42631600-42649800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr15:42631800-42643400	Weak transcription	HSMMtube	muscle
16	chr15:42631800-42649400	Weak transcription	Fetal Brain Male	brain
17	chr15:42631800-42651000	Weak transcription	Fetal Heart	heart
18	chr15:42632200-42652600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr15:42633600-42643400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr15:42634400-42644600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:42634600-42648000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:42634600-42648200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:42634600-42650400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr15:42635200-42645000	Weak transcription	Dnd41	blood
25	chr15:42635200-42646400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:42635400-42644600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr15:42636200-42645400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:42636400-42645400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:42636400-42646400	Weak transcription	Fetal Brain Female	brain
30	chr15:42636400-42647800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:42636400-42656600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:42636600-42643400	Weak transcription	Brain Substantia Nigra	brain
33	chr15:42636600-42645000	Weak transcription	Colon Smooth Muscle	Colon
34	chr15:42636800-42643400	Weak transcription	Gastric	stomach
35	chr15:42636800-42643600	Weak transcription	Placenta	Placenta
36	chr15:42636800-42644000	Weak transcription	Pancreas	Pancrea
37	chr15:42637000-42643200	Weak transcription	Brain Anterior Caudate	brain
38	chr15:42637000-42643400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:42637200-42643200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr15:42637200-42653600	Weak transcription	Brain Germinal Matrix	brain
41	chr15:42637400-42643400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:42637400-42645600	Weak transcription	HUVEC	blood vessel
43	chr15:42637600-42647000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:42637800-42645800	Strong transcription	Fetal Stomach	stomach
45	chr15:42638200-42643600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr15:42638200-42644800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:42638400-42651800	Weak transcription	Psoas Muscle	Psoas
48	chr15:42638600-42646000	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr15:42639000-42643200	Weak transcription	Fetal Lung	lung
50	chr15:42639000-42646400	Strong transcription	Fetal Muscle Leg	muscle

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