Variant report

Variant	esv2478123
Chromosome Location	chr15:40994786-40996218
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40986986..40988928-chr15:40995699..40999110,3	K562	blood:
2	chr15:40994380..40994911-chr15:41032177..41032692,2	MCF-7	breast:
3	chr15:40995522..40997784-chr15:41002139..41003816,2	K562	blood:
4	chr15:40992580..40995462-chr15:41019256..41021826,2	K562	blood:
5	chr15:40991175..40993650-chr15:40995773..40997276,2	K562	blood:

Variant related genes	Relation type
ENSG00000245849	chromatin interactions
ENSG00000051180	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7172195	chr15:40994808-40994809	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370582986	chr15:40994820-40994821	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558700168	chr15:40994826-40994827	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575674303	chr15:40994830-40994831	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561935363	chr15:40994851-40994852	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7173646	chr15:40994853-40994854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs574891838	chr15:40994875-40994876	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs45528436	chr15:40994878-40994879	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186933454	chr15:40994897-40994898	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560784536	chr15:40994906-40994907	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs532839716	chr15:40994916-40994917	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs45541035	chr15:40995015-40995016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76058430	chr15:40995035-40995036	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs45588237	chr15:40995047-40995048	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191819946	chr15:40995107-40995108	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368376282	chr15:40995108-40995109	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563093982	chr15:40995132-40995133	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530561336	chr15:40995146-40995147	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550660054	chr15:40995155-40995156	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566974631	chr15:40995167-40995168	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150163684	chr15:40995174-40995175	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546152223	chr15:40995237-40995238	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145670471	chr15:40995254-40995255	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577120916	chr15:40995322-40995323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs117520970	chr15:40995329-40995330	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4924496	chr15:40995335-40995336	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs569045918	chr15:40995345-40995346	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576407571	chr15:40995348-40995349	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs148870330	chr15:40995362-40995363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368774709	chr15:40995364-40995365	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs117190554	chr15:40995373-40995374	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145488710	chr15:40995397-40995398	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534220547	chr15:40995398-40995399	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs45478994	chr15:40995404-40995405	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577513866	chr15:40995422-40995423	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183929456	chr15:40995423-40995424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576601755	chr15:40995425-40995426	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs45481096	chr15:40995516-40995517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562999829	chr15:40995521-40995522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529070737	chr15:40995526-40995527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573635680	chr15:40995537-40995538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542028548	chr15:40995538-40995539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188927168	chr15:40995553-40995554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189809227	chr15:40995574-40995575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546216302	chr15:40995598-40995599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559712102	chr15:40995609-40995610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532342660	chr15:40995616-40995617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138852583	chr15:40995667-40995668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550772584	chr15:40995680-40995681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569032075	chr15:40995684-40995685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	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
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40988000-40999400	Weak transcription	Right Atrium	heart
2	chr15:40988000-41030000	Weak transcription	Pancreas	Pancrea
3	chr15:40988200-41001200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:40988200-41028600	Weak transcription	Spleen	Spleen
5	chr15:40988400-40998000	Weak transcription	Fetal Intestine Large	intestine
6	chr15:40988400-41020600	Weak transcription	Placenta	Placenta
7	chr15:40988400-41020800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:40988400-41021600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:40988400-41021800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:40988400-41027200	Weak transcription	Primary B cells from cord blood	blood
11	chr15:40988400-41031000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr15:40988600-40994800	Weak transcription	Fetal Intestine Small	intestine
13	chr15:40988600-40998400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr15:40988600-41000800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr15:40988600-41001200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:40988600-41007800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:40988600-41018400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:40988600-41021400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr15:40988600-41021400	Weak transcription	Fetal Brain Female	brain
20	chr15:40988800-40998600	Weak transcription	Gastric	stomach
21	chr15:40988800-40998600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:40988800-41000800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:40988800-41000800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:40988800-41000800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:40988800-41001200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:40988800-41002800	Weak transcription	Brain Germinal Matrix	brain
27	chr15:40988800-41020600	Weak transcription	Primary T cells from cord blood	blood
28	chr15:40988800-41021600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:40988800-41021800	Weak transcription	Fetal Kidney	kidney
30	chr15:40989000-41001000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:40989000-41001200	Weak transcription	Fetal Lung	lung
32	chr15:40989000-41012000	Weak transcription	NHLF	lung
33	chr15:40989000-41018000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:40989200-40997200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:40989200-40997200	Weak transcription	NHEK	skin
36	chr15:40989200-40998000	Weak transcription	Fetal Heart	heart
37	chr15:40989200-41001200	Weak transcription	A549	lung
38	chr15:40989200-41002800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr15:40990000-41004800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:40990200-40999400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:40990200-41006800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:40990200-41013200	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr15:40990200-41016800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:40990200-41016800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:40990600-41015000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr15:40990600-41022600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:40990800-40995400	Strong transcription	K562	blood
48	chr15:40990800-40996000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:40990800-41005000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:40990800-41005200	Strong transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links