Variant report

Variant	nsv974604
Chromosome Location	chr15:77496873-77500234
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	chr15:77496850-77497005	MCF-7	breast:	n/a	n/a
2	POLR2A	chr15:77496826-77496961	Gliobla	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSTPIP1-3	chr15:77497255-77497442	NONHSAT047428
2	lnc-PSTPIP1-3	chr15:77496920-77496976	NONHSAT047428

Variant related genes	Relation type
ENSG00000259722	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559256241	chr15:77496899-77496900	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs376517852	chr15:77496941-77496942	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs140238101	chr15:77496945-77496946	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs367890196	chr15:77496969-77496970	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs191615219	chr15:77496973-77496974	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs78594709	chr15:77496974-77496975	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs550332180	chr15:77497002-77497003	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142962552	chr15:77497012-77497013	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539069131	chr15:77497025-77497026	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567236870	chr15:77497072-77497073	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553881340	chr15:77497086-77497087	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572363727	chr15:77497099-77497100	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150939752	chr15:77497124-77497125	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554811590	chr15:77497165-77497166	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149699011	chr15:77497182-77497183	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543603649	chr15:77497222-77497223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183140175	chr15:77497241-77497242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201840241	chr15:77497244-77497245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79982717	chr15:77497245-77497246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576869643	chr15:77497273-77497274	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs78650083	chr15:77497282-77497283	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs559960172	chr15:77497290-77497291	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs555742558	chr15:77497291-77497292	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs541082298	chr15:77497294-77497295	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs376776011	chr15:77497309-77497310	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs559101994	chr15:77497318-77497319	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs186461225	chr15:77497389-77497390	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs548530493	chr15:77497414-77497415	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs370995766	chr15:77497467-77497468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530765376	chr15:77497520-77497521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189761682	chr15:77497573-77497574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34117093	chr15:77497587-77497588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570577854	chr15:77497597-77497598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74248522	chr15:77497598-77497599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538764176	chr15:77497611-77497612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547832005	chr15:77497616-77497617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77042139	chr15:77497617-77497618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374955010	chr15:77497618-77497619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199716001	chr15:77497619-77497620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200444672	chr15:77497620-77497621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377342651	chr15:77497621-77497622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536233029	chr15:77497622-77497623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116930296	chr15:77497684-77497685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576327204	chr15:77497766-77497767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537302694	chr15:77497777-77497778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558895065	chr15:77497780-77497781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544789285	chr15:77497789-77497790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558024007	chr15:77497825-77497826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4886514	chr15:77497897-77497898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs182428155	chr15:77497905-77497906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77469800-77499200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:77471400-77505800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:77472400-77500800	Weak transcription	HSMMtube	muscle
4	chr15:77473600-77527800	Weak transcription	Placenta	Placenta
5	chr15:77480400-77528000	Weak transcription	Fetal Stomach	stomach
6	chr15:77482000-77506200	Weak transcription	Pancreas	Pancrea
7	chr15:77482200-77504800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:77482200-77528000	Weak transcription	Spleen	Spleen
9	chr15:77484000-77518800	Weak transcription	Colon Smooth Muscle	Colon
10	chr15:77487400-77516800	Weak transcription	Fetal Heart	heart
11	chr15:77491000-77500000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:77491800-77510600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr15:77492000-77500800	Weak transcription	HUVEC	blood vessel
14	chr15:77492000-77505600	Weak transcription	Fetal Intestine Large	intestine
15	chr15:77492000-77516600	Weak transcription	NH-A	brain
16	chr15:77492000-77517000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr15:77492200-77499600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:77492200-77499800	Weak transcription	Dnd41	blood
19	chr15:77492200-77500000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:77492200-77505800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:77492200-77507000	Weak transcription	Left Ventricle	heart
22	chr15:77492200-77509400	Weak transcription	Ovary	ovary
23	chr15:77492200-77515000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr15:77492200-77516600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr15:77492200-77516800	Weak transcription	Adipose Nuclei	Adipose
26	chr15:77492200-77516800	Weak transcription	NHLF	lung
27	chr15:77492200-77527400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:77492200-77527800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:77492200-77527800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr15:77492200-77528200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr15:77492400-77499600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:77492400-77500200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:77492400-77500200	Weak transcription	HSMM	muscle
34	chr15:77492400-77500400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr15:77492400-77501000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:77492400-77506000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:77492400-77516600	Weak transcription	Fetal Intestine Small	intestine
38	chr15:77492400-77516800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr15:77492400-77516800	Weak transcription	Primary B cells from cord blood	blood
40	chr15:77492400-77544000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:77492600-77497600	Weak transcription	Liver	Liver
42	chr15:77492600-77499600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr15:77492600-77499600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:77492600-77499600	Weak transcription	NHDF-Ad	bronchial
45	chr15:77492600-77499800	Weak transcription	Fetal Lung	lung
46	chr15:77492600-77501400	Weak transcription	Primary T cells from cord blood	blood
47	chr15:77492600-77516600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr15:77492600-77516800	Weak transcription	Aorta	Aorta
49	chr15:77492800-77516400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr15:77494600-77499600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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