Variant report

Variant	nsv974559
Chromosome Location	chr15:40241861-40243776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40242622-40242634	K562	blood:	n/a	n/a
2	POLR2A	chr15:40242680-40242744	ProgFib	skin:	n/a	n/a
3	RAD21	chr15:40243711-40244118	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40226223..40227908-chr15:40241958..40244363,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR176-1	chr15:40243576-40243909	NONHSAT041782

Variant related genes	Relation type
EIF2AK4	TF binding region
ENSG00000238564	TF binding region
ENSG00000128829	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146907246	chr15:40241949-40241950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551175127	chr15:40241975-40241976	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568000044	chr15:40242032-40242033	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536942423	chr15:40242044-40242045	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148364988	chr15:40242207-40242208	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181773142	chr15:40242249-40242250	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534576220	chr15:40242283-40242284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559845553	chr15:40242357-40242358	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557588230	chr15:40242363-40242364	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140115261	chr15:40242391-40242392	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs150288246	chr15:40242434-40242435	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556731430	chr15:40242449-40242450	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376387020	chr15:40242458-40242459	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187251729	chr15:40242531-40242532	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558405261	chr15:40242540-40242541	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542518333	chr15:40242542-40242543	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115214068	chr15:40242571-40242572	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528493923	chr15:40242584-40242585	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545359039	chr15:40242599-40242600	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75895902	chr15:40242608-40242609	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78756332	chr15:40242611-40242612	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138001772	chr15:40242614-40242615	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531017687	chr15:40242674-40242675	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs61375261	chr15:40242711-40242712	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561469190	chr15:40242716-40242717	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs530276282	chr15:40242727-40242728	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs546992158	chr15:40242770-40242771	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567123176	chr15:40242803-40242804	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199871778	chr15:40242813-40242814	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534347932	chr15:40242814-40242815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551337951	chr15:40242840-40242841	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571053964	chr15:40242848-40242849	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190908419	chr15:40242851-40242852	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556593639	chr15:40242858-40242859	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs182301718	chr15:40242871-40242872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs202241655	chr15:40242945-40242946	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs60565652	chr15:40242952-40242953	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373524870	chr15:40242959-40242960	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553015347	chr15:40243009-40243010	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs79470773	chr15:40243056-40243057	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs186628417	chr15:40243118-40243119	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs74011717	chr15:40243150-40243151	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374556443	chr15:40243181-40243182	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74920518	chr15:40243215-40243216	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146014521	chr15:40243228-40243229	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544726535	chr15:40243253-40243254	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561330535	chr15:40243276-40243277	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1020028	chr15:40243328-40243329	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138662379	chr15:40243343-40243344	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550418977	chr15:40243387-40243388	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Ovarian cancer	21720365	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40227200-40247800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:40227200-40248200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr15:40227200-40268400	Weak transcription	Esophagus	oesophagus
4	chr15:40227400-40283400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:40227800-40247000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:40227800-40268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr15:40228600-40246000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr15:40230000-40263000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr15:40230200-40255600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr15:40230400-40261600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:40230600-40252400	Weak transcription	Right Atrium	heart
13	chr15:40231000-40268400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:40231400-40243400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:40231800-40243400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr15:40231800-40252600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:40232000-40261400	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:40232000-40262600	Strong transcription	Liver	Liver
19	chr15:40232200-40244600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr15:40232200-40250200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:40232200-40252400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr15:40232400-40252400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr15:40232600-40251000	Strong transcription	Left Ventricle	heart
24	chr15:40232600-40251800	Strong transcription	Adipose Nuclei	Adipose
25	chr15:40233400-40248600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr15:40234800-40244200	Strong transcription	NHEK	skin
27	chr15:40235000-40242200	Strong transcription	Fetal Brain Female	brain
28	chr15:40235000-40245000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:40235000-40245400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:40235000-40263000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr15:40235200-40243400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:40235200-40244200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:40235800-40242000	Strong transcription	Brain Anterior Caudate	brain
34	chr15:40236000-40255400	Strong transcription	Fetal Lung	lung
35	chr15:40236000-40260000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:40236400-40244200	Strong transcription	Dnd41	blood
37	chr15:40236600-40245600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
39	chr15:40237800-40255600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr15:40238000-40243200	Weak transcription	Spleen	Spleen
41	chr15:40238000-40277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:40238200-40243400	Weak transcription	Gastric	stomach
43	chr15:40238200-40245800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr15:40238200-40247000	Weak transcription	K562	blood
45	chr15:40238400-40243200	Weak transcription	Aorta	Aorta
46	chr15:40238400-40243600	Weak transcription	Brain Angular Gyrus	brain
47	chr15:40238600-40242200	Weak transcription	Fetal Kidney	kidney
48	chr15:40238600-40243000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr15:40238600-40243600	Weak transcription	Psoas Muscle	Psoas
50	chr15:40238600-40244000	Weak transcription	Placenta Amnion	Placenta Amnion

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