Variant report

Variant	esv2753725
Chromosome Location	chr15:39918678-39921167
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:39904208..39905755-chr15:39920256..39923195,2	MCF-7	breast:
2	chr15:39871401..39883645-chr15:39918779..39926575,24	MCF-7	breast:
3	chr15:39913171..39923947-chr15:39954798..39966806,32	MCF-7	breast:
4	chr15:39873342..39875967-chr15:39918932..39920569,2	MCF-7	breast:
5	chr15:39920057..39920589-chr15:39960433..39961124,2	MCF-7	breast:
6	chr15:39887137..39895767-chr15:39912868..39924962,20	MCF-7	breast:
7	chr15:39603952..39606127-chr15:39921042..39922610,2	MCF-7	breast:
8	chr15:39920056..39920589-chr15:39960433..39961135,3	MCF-7	breast:
9	chr15:39920079..39920917-chr15:39960384..39961046,3	MCF-7	breast:
10	chr15:39890030..39893862-chr15:39920684..39923175,4	MCF-7	breast:
11	chr15:39920700..39923129-chr15:39958970..39962199,4	MCF-7	breast:
12	chr15:39872729..39875575-chr15:39921037..39923866,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150667	chromatin interactions
ENSG00000137801	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4476147	chr15:39918678-39918679	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146462877	chr15:39918688-39918689	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185845221	chr15:39918692-39918693	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2412410	chr15:39918734-39918735	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs880270	chr15:39918861-39918862	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546388331	chr15:39918871-39918872	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550501528	chr15:39918929-39918930	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370978890	chr15:39918952-39918953	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs140888839	chr15:39918956-39918957	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190785919	chr15:39918978-39918979	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112250307	chr15:39918996-39918997	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs374579954	chr15:39918997-39918998	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs76952462	chr15:39919003-39919004	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs576404798	chr15:39919044-39919045	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs182031596	chr15:39919091-39919092	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs186195650	chr15:39919108-39919109	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs60884629	chr15:39919159-39919160	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568731917	chr15:39919170-39919171	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs111664066	chr15:39919175-39919176	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs386783271	chr15:39919176-39919177	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200328249	chr15:39919177-39919178	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs56722485	chr15:39919191-39919192	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs57969006	chr15:39919204-39919205	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs200923944	chr15:39919207-39919208	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs185524790	chr15:39919215-39919216	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs114196855	chr15:39919223-39919224	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs537008478	chr15:39919254-39919255	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs560197126	chr15:39919257-39919258	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs190237040	chr15:39919312-39919313	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs545957596	chr15:39919330-39919331	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs562845763	chr15:39919331-39919332	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs144641355	chr15:39919363-39919364	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs548589706	chr15:39919394-39919395	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs376222717	chr15:39919413-39919414	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370645362	chr15:39919415-39919416	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs529633935	chr15:39919450-39919451	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs151202006	chr15:39919480-39919481	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs371324163	chr15:39919559-39919560	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs538860258	chr15:39919567-39919568	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs201352153	chr15:39919611-39919612	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs114045198	chr15:39919628-39919629	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs115159316	chr15:39919648-39919649	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs150379292	chr15:39919668-39919669	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs138085010	chr15:39919674-39919675	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574805745	chr15:39919718-39919719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs2412411	chr15:39919769-39919770	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs12442952	chr15:39919777-39919778	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576878033	chr15:39919804-39919805	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs545996119	chr15:39919807-39919808	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs183180184	chr15:39919816-39919817	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39913200-39924000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr15:39913400-39921000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:39913400-39922400	Enhancers	Fetal Intestine Large	intestine
4	chr15:39913400-39923800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:39914000-39922800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:39914200-39922600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr15:39914600-39922800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr15:39914600-39923600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr15:39914600-39923600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr15:39914600-39923800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr15:39914800-39923800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr15:39915400-39918800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr15:39915800-39918800	Enhancers	HUVEC	blood vessel
14	chr15:39916000-39918800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:39916000-39920000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr15:39916000-39922200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr15:39916000-39924000	Enhancers	HMEC	breast
18	chr15:39916200-39918800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:39916200-39920800	Enhancers	Spleen	Spleen
20	chr15:39916200-39921000	Weak transcription	Thymus	Thymus
21	chr15:39916200-39922200	Enhancers	Left Ventricle	heart
22	chr15:39916200-39923400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr15:39916400-39937800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:39916600-39918800	Enhancers	NHDF-Ad	bronchial
25	chr15:39916600-39919600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:39916600-39921000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:39916800-39921600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:39916800-39921800	Enhancers	Right Ventricle	heart
29	chr15:39917000-39920400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:39917400-39923800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:39917600-39919800	Enhancers	Fetal Heart	heart
32	chr15:39917600-39920200	Weak transcription	Aorta	Aorta
33	chr15:39917600-39920400	Weak transcription	Psoas Muscle	Psoas
34	chr15:39917600-39920800	Weak transcription	Colon Smooth Muscle	Colon
35	chr15:39917600-39921000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:39917600-39921600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr15:39917600-39926200	Weak transcription	Esophagus	oesophagus
38	chr15:39917800-39920000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:39917800-39920000	Weak transcription	Placenta	Placenta
40	chr15:39917800-39920200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:39917800-39920200	Weak transcription	Liver	Liver
42	chr15:39917800-39920400	Weak transcription	HSMM	muscle
43	chr15:39917800-39920800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr15:39917800-39921200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:39918000-39919400	Weak transcription	Fetal Muscle Leg	muscle
46	chr15:39918000-39919400	Weak transcription	Lung	lung
47	chr15:39918000-39919400	Weak transcription	Small Intestine	intestine
48	chr15:39918000-39919800	Weak transcription	Colonic Mucosa	Colon
49	chr15:39918000-39920000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr15:39918000-39920200	Weak transcription	Fetal Thymus	thymus

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