Variant report

Variant	nsv974605
Chromosome Location	chr15:77570795-77573730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:77573330-77573445	ProgFib	skin:	n/a	n/a
2	POLR2A	chr15:77571366-77571431	A549	lung:	n/a	n/a
3	POLR2A	chr15:77571647-77571667	ProgFib	skin:	n/a	n/a
4	POLR2A	chr15:77571379-77571456	MCF-7	breast:	n/a	n/a
5	POLR2A	chr15:77571301-77571308	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:77570797-77570847	PANC-1	pancreas:	n/a
2	chr15:77570797-77570847	SAEC	small airway:	n/a
3	chr15:77570797-77570847	H1-hESC	embryonic stem cell:	embryo
4	chr15:77570797-77570847	HAEpiC	amniotic membrane:	n/a
5	chr15:77570797-77570847	AG04450	lung:	fetal
6	chr15:77570797-77570847	LNCaP	prostate:	n/a
7	chr15:77570797-77570847	NHBE	bronchial:	n/a
8	chr15:77570797-77570847	ovcar-3	ovarian:	n/a
9	chr15:77570797-77570847	ProgFib	skin:	n/a
10	chr15:77570797-77570847	GM12892	blood:	n/a
11	chr15:77570797-77570847	A549	lung:	n/a
12	chr15:77570797-77570847	AG09319	gingival:	n/a
13	chr15:77570797-77570847	Hepatocyte	liver:	n/a
14	chr15:77570797-77570847	MCF-7	breast:	n/a
15	chr15:77570797-77570847	HNPCEpiC	eye:	n/a
16	chr15:77570797-77570847	CMK	blood:	n/a
17	chr15:77570797-77570847	HPAEpiC	pulmonary alveolar:	n/a
18	chr15:77570797-77570847	HCF	heart:	n/a
19	chr15:77570797-77570847	GM12891	blood:	n/a
20	chr15:77570797-77570847	Jurkat	blood:	n/a
21	chr15:77570797-77570847	AG10803	skin:	n/a
22	chr15:77570797-77570847	MCF10A-Er-Src	breast:	n/a
23	chr15:77570797-77570847	NHDF-neo	bronchial:	n/a
24	chr15:77570797-77570847	U87	brain:	n/a
25	chr15:77570797-77570847	NB4	blood:	n/a
26	chr15:77570797-77570847	IMR90	lung:	fetal
27	chr15:77570797-77570847	GM06990	blood:	n/a
28	chr15:77570797-77570847	RPTEC	kidney:	n/a
29	chr15:77570797-77570847	K562	blood:	n/a
30	chr15:77570797-77570847	HEEpiC	esophagus:	n/a
31	chr15:77570797-77570847	HL-60	blood:	n/a
32	chr15:77570797-77570847	HRCEpiC	kidney:	n/a
33	chr15:77570797-77570847	HUVEC	blood vessel:	n/a
34	chr15:77570797-77570847	HCT-116	colon:	n/a
35	chr15:77570797-77570847	GM12878	blood:	n/a
36	chr15:77570797-77570847	HEK293	kidney:	embryo
37	chr15:77570797-77570847	SKMC	muscle:	n/a
38	chr15:77570797-77570847	HIPEpiC	eye:	n/a
39	chr15:77570797-77570847	HepG2	liver:	n/a
40	chr15:77570797-77570847	NH-A	brain:	n/a
41	chr15:77570797-77570847	SK-N-SH_RA	brain:	n/a
42	chr15:77570797-77570847	ECC-1	luminal epithelium:	n/a
43	chr15:77570797-77570847	HRE	kidney:	n/a
44	chr15:77570797-77570847	GM19239	blood:	n/a
45	chr15:77570797-77570847	BE2_C	brain:	n/a
46	chr15:77570797-77570847	AG09309	skin:	n/a
47	chr15:77570797-77570847	BJ	skin:	n/a
48	chr15:77570797-77570847	HCM	heart:	n/a
49	chr15:77570797-77570847	SK-N-SH	brain:	n/a
50	chr15:77570797-77570847	HRPEpiC	eye:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77573695..77576435-chr15:77580239..77581887,3	K562	blood:
2	chr15:77571666..77575195-chr15:77579317..77581859,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230459	TF binding region
ENSG00000230459	CpG island

Extended variants
information (count: 112 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549654866	chr15:77570801-77570802	Weak transcription Strong transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs542593100	chr15:77570876-77570877	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs55890902	chr15:77570898-77570899	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560578815	chr15:77570950-77570951	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16968741	chr15:77570951-77570952	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543132131	chr15:77571066-77571067	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562704988	chr15:77571068-77571069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533349092	chr15:77571074-77571075	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148848946	chr15:77571085-77571086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144111164	chr15:77571106-77571107	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369261846	chr15:77571142-77571143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574598448	chr15:77571149-77571150	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200903550	chr15:77571171-77571172	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563877153	chr15:77571174-77571175	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397854480	chr15:77571175-77571176	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61057428	chr15:77571192-77571193	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148627793	chr15:77571193-77571194	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528008883	chr15:77571220-77571221	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549335714	chr15:77571246-77571247	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567683844	chr15:77571247-77571248	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531804483	chr15:77571266-77571267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550307437	chr15:77571270-77571271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571816582	chr15:77571279-77571280	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538818635	chr15:77571300-77571301	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543414642	chr15:77571303-77571304	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553719933	chr15:77571332-77571333	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200299561	chr15:77571436-77571437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139127790	chr15:77571438-77571439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199703120	chr15:77571441-77571442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201119946	chr15:77571443-77571444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199966230	chr15:77571446-77571447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112675886	chr15:77571447-77571448	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201174351	chr15:77571448-77571449	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147947757	chr15:77571452-77571453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557891197	chr15:77571477-77571478	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71145809	chr15:77571478-77571479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74813314	chr15:77571523-77571524	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373183535	chr15:77571608-77571609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372929727	chr15:77571610-77571611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113625831	chr15:77571614-77571615	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114262340	chr15:77571623-77571624	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56064013	chr15:77571640-77571641	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111707192	chr15:77571708-77571709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185477388	chr15:77571762-77571763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575644103	chr15:77571764-77571765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543070700	chr15:77571784-77571785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370512438	chr15:77571797-77571798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77696628	chr15:77571811-77571812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576903945	chr15:77571835-77571836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556503478	chr15:77571846-77571847	Weak transcription Strong transcription Enhancers	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77520200-77578800	Weak transcription	Small Intestine	intestine
2	chr15:77527000-77576200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr15:77528800-77571400	Weak transcription	Right Ventricle	heart
4	chr15:77528800-77574400	Weak transcription	HepG2	liver
5	chr15:77528800-77577200	Weak transcription	Spleen	Spleen
6	chr15:77528800-77579200	Weak transcription	Brain Angular Gyrus	brain
7	chr15:77529400-77574400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr15:77541800-77589800	Weak transcription	Fetal Intestine Small	intestine
9	chr15:77542000-77575200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:77542000-77575200	Weak transcription	HUVEC	blood vessel
11	chr15:77542200-77580000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:77544400-77571400	Weak transcription	HSMMtube	muscle
13	chr15:77544400-77581000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr15:77544600-77570800	Weak transcription	Left Ventricle	heart
15	chr15:77544600-77589200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr15:77545200-77576200	Weak transcription	HSMM	muscle
17	chr15:77552600-77574200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr15:77553400-77573200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:77559400-77578800	Weak transcription	Ovary	ovary
20	chr15:77559600-77574400	Weak transcription	NHLF	lung
21	chr15:77559600-77576200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:77559600-77578800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:77559800-77579400	Weak transcription	Brain Anterior Caudate	brain
24	chr15:77559800-77585200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr15:77560000-77572400	Weak transcription	Lung	lung
26	chr15:77560000-77574000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr15:77560000-77575000	Weak transcription	Adipose Nuclei	Adipose
28	chr15:77560000-77576600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr15:77560200-77570800	Weak transcription	Fetal Stomach	stomach
30	chr15:77560200-77571400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:77560800-77571200	Weak transcription	Fetal Muscle Leg	muscle
32	chr15:77560800-77571400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:77562000-77580200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr15:77562200-77576000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:77562200-77589600	Weak transcription	Primary T cells from cord blood	blood
36	chr15:77563400-77577400	Weak transcription	Fetal Kidney	kidney
37	chr15:77564200-77572200	Weak transcription	Primary B cells from cord blood	blood
38	chr15:77565200-77576400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr15:77565400-77578800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:77565600-77573600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:77566000-77576400	Weak transcription	Fetal Intestine Large	intestine
42	chr15:77567000-77573200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:77567600-77580200	Weak transcription	Fetal Lung	lung
44	chr15:77568400-77570800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr15:77568400-77575200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:77568400-77578600	Weak transcription	Esophagus	oesophagus
47	chr15:77568800-77573200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:77568800-77574400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:77568800-77578000	Weak transcription	Thymus	Thymus
50	chr15:77569000-77574200	Weak transcription	NHDF-Ad	bronchial

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