Variant report

Variant	nsv569985
Chromosome Location	chr15:74719297-74722061
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74720298..74721801-chr15:74727091..74728921,2	MCF-7	breast:
2	chr15:74708765..74710665-chr15:74717275..74720280,3	K562	blood:
3	chr15:74679411..74681539-chr15:74718072..74720189,2	K562	blood:
4	chr15:74711706..74714244-chr15:74719320..74721195,2	K562	blood:
5	chr15:74687904..74690050-chr15:74721010..74722729,2	MCF-7	breast:
6	chr15:74664841..74669022-chr15:74717731..74721779,3	K562	blood:
7	chr15:74690543..74693238-chr15:74721737..74723787,2	MCF-7	breast:
8	chr15:74715079..74717127-chr15:74720885..74723638,2	MCF-7	breast:
9	chr15:74673143..74676106-chr15:74720304..74723999,3	K562	blood:
10	chr15:74685612..74687526-chr15:74716877..74719383,2	K562	blood:
11	chr15:74718075..74720590-chr15:74744935..74747887,2	K562	blood:
12	chr15:74712355..74714244-chr15:74719225..74721195,3	K562	blood:
13	chr15:74720324..74723910-chr15:74723921..74727050,4	MCF-7	breast:
14	chr15:74678579..74680979-chr15:74717975..74720152,2	MCF-7	breast:
15	chr15:74716409..74721225-chr15:74724454..74727081,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138623	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 68 )

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	rs28362881	chr15:74719297-74719298	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537716181	chr15:74719313-74719314	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146222222	chr15:74719317-74719318	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377752345	chr15:74719329-74719330	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs28362880	chr15:74719369-74719370	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190382011	chr15:74719378-74719379	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374736736	chr15:74719408-74719409	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572594659	chr15:74719457-74719458	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144108192	chr15:74719475-74719476	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370659827	chr15:74719486-74719487	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554818606	chr15:74719490-74719491	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs28362879	chr15:74719531-74719532	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs28362878	chr15:74719561-74719562	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565316229	chr15:74719576-74719577	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs186021173	chr15:74719594-74719595	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs114791309	chr15:74719689-74719690	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs559804880	chr15:74719711-74719712	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530090043	chr15:74719740-74719741	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190739201	chr15:74719748-74719749	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs181156178	chr15:74719892-74719893	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376957456	chr15:74719908-74719909	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562394301	chr15:74719921-74719922	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549640978	chr15:74719922-74719923	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570955754	chr15:74719926-74719927	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs28362877	chr15:74719955-74719956	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148692998	chr15:74719993-74719994	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs28362876	chr15:74719998-74719999	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12593390	chr15:74720076-74720077	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185758787	chr15:74720097-74720098	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs117211084	chr15:74720134-74720135	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs28362875	chr15:74720164-74720165	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574313697	chr15:74720167-74720168	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189683388	chr15:74720209-74720210	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34861006	chr15:74720215-74720216	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs563225103	chr15:74720253-74720254	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576765486	chr15:74720263-74720264	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12593451	chr15:74720273-74720274	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201902155	chr15:74720371-74720372	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545476217	chr15:74720423-74720424	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs28362874	chr15:74720443-74720444	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182586358	chr15:74720447-74720448	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34027992	chr15:74720467-74720468	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188050120	chr15:74720524-74720525	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs118154145	chr15:74720540-74720541	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs151034899	chr15:74720571-74720572	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531398134	chr15:74720583-74720584	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs386785389	chr15:74720651-74720652	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs114199935	chr15:74720652-74720653	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs142355795	chr15:74720714-74720715	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs77597625	chr15:74720751-74720752	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	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
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74707200-74722400	Weak transcription	Fetal Intestine Small	intestine
2	chr15:74708400-74722400	Genic enhancers	Fetal Thymus	thymus
3	chr15:74709200-74720200	Weak transcription	Esophagus	oesophagus
4	chr15:74709200-74720800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr15:74709200-74724800	Weak transcription	Primary T cells from cord blood	blood
6	chr15:74710000-74722800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:74710200-74722000	Weak transcription	Dnd41	blood
8	chr15:74710400-74721200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr15:74710400-74722800	Enhancers	Brain Hippocampus Middle	brain
10	chr15:74711000-74721000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:74711000-74723200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:74711000-74723400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:74713000-74724000	Weak transcription	Gastric	stomach
14	chr15:74713200-74725000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
15	chr15:74713400-74724400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr15:74713400-74725200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr15:74715000-74722600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr15:74715600-74720200	Weak transcription	Fetal Brain Male	brain
19	chr15:74715600-74724800	Weak transcription	Lung	lung
20	chr15:74715800-74720200	Weak transcription	Colonic Mucosa	Colon
21	chr15:74715800-74721000	Weak transcription	Brain Germinal Matrix	brain
22	chr15:74715800-74721800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr15:74716000-74720400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:74716000-74720800	Weak transcription	Adipose Nuclei	Adipose
25	chr15:74716000-74722000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:74716200-74720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr15:74716200-74723400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:74716200-74724000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:74716200-74724800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr15:74716200-74725000	Weak transcription	A549	lung
31	chr15:74716400-74720200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:74716400-74720600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:74716400-74720600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:74716400-74721200	Genic enhancers	Muscle Satellite Cultured Cells	--
35	chr15:74716400-74722000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:74716400-74722200	Genic enhancers	Spleen	Spleen
37	chr15:74716600-74720600	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr15:74716600-74721800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr15:74716600-74725000	Weak transcription	Right Atrium	heart
40	chr15:74716800-74719400	Genic enhancers	K562	blood
41	chr15:74716800-74720400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:74716800-74720600	Genic enhancers	HepG2	liver
43	chr15:74717000-74720000	Weak transcription	Fetal Stomach	stomach
44	chr15:74717000-74720400	Weak transcription	NHLF	lung
45	chr15:74717000-74723000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:74717400-74720400	Weak transcription	Fetal Muscle Leg	muscle
47	chr15:74717400-74720600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr15:74717400-74720800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:74717400-74721000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:74717600-74720600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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