Variant report

Variant	nsv974699
Chromosome Location	chr15:74936246-74941209
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74930689..74933776-chr15:74934875..74937853,3	MCF-7	breast:
2	chr15:74921651..74924062-chr15:74933331..74936263,2	MCF-7	breast:
3	chr15:74934635..74938878-chr15:75051211..75054308,5	K562	blood:
4	chr15:74934223..74936994-chr15:75029274..75031013,2	K562	blood:
5	chr15:74907065..74909615-chr15:74934193..74937135,2	K562	blood:
6	chr15:74934214..74936976-chr15:74941708..74943417,2	MCF-7	breast:
7	chr15:74911959..74914507-chr15:74933976..74936666,3	K562	blood:
8	chr15:74935984..74937934-chr15:74939232..74941794,2	MCF-7	breast:
9	chr15:74934684..74937522-chr15:74987550..74989111,2	MCF-7	breast:
10	chr15:74935634..74937586-chr15:74986007..74988379,2	MCF-7	breast:
11	chr15:74935984..74937934-chr15:74939232..74941794,2	MCF-7	breast:
12	chr15:74934342..74936615-chr15:75247598..75250189,2	K562	blood:
13	chr15:74891909..74894036-chr15:74941132..74943134,2	K562	blood:
14	chr1:151962033..151964445-chr15:74939477..74941082,2	MCF-7	breast:
15	chr15:74937309..74940220-chr15:75050059..75052709,2	K562	blood:
16	chr15:74932895..74935104-chr15:74940068..74942469,2	MCF-7	breast:
17	chr15:74940461..74943987-chr15:74987156..74990562,4	MCF-7	breast:
18	chr15:74935038..74937009-chr15:74940128..74941656,2	MCF-7	breast:
19	chr15:74906546..74909246-chr15:74936890..74938956,2	MCF-7	breast:
20	chr15:74935038..74937009-chr15:74940128..74941656,2	MCF-7	breast:
21	chr15:74938979..74941178-chr15:75046252..75049001,2	MCF-7	breast:
22	chr15:74932203..74934571-chr15:74936265..74938863,2	K562	blood:
23	chr15:74933532..74936602-chr15:75133936..75137022,3	MCF-7	breast:
24	chr15:74890668..74892289-chr15:74934779..74936302,2	MCF-7	breast:
25	chr15:74932057..74934651-chr15:74938157..74940129,2	MCF-7	breast:
26	chr15:74933643..74936641-chr15:75037979..75039941,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198794	chromatin interactions
ENSG00000178718	chromatin interactions
ENSG00000179335	chromatin interactions
ENSG00000140474	chromatin interactions
ENSG00000260919	chromatin interactions
ENSG00000179151	chromatin interactions

Extended variants
information (count: 166 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541484173	chr15:74936277-74936278	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs563240941	chr15:74936313-74936314	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs566502841	chr15:74936321-74936322	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs144261884	chr15:74936453-74936454	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs146976565	chr15:74936469-74936470	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs79331970	chr15:74936478-74936479	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs145239852	chr15:74936512-74936513	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs564144547	chr15:74936552-74936553	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs55675304	chr15:74936636-74936637	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs547362153	chr15:74936679-74936680	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs373229667	chr15:74936680-74936681	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs568658808	chr15:74936692-74936693	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs75041091	chr15:74936709-74936710	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs115916599	chr15:74936710-74936711	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs555361850	chr15:74936760-74936761	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs369017503	chr15:74936791-74936792	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs539785710	chr15:74936830-74936831	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs557850368	chr15:74936840-74936841	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs192340654	chr15:74936900-74936901	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs534596048	chr15:74936939-74936940	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs13379544	chr15:74936980-74936981	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs145322011	chr15:74936994-74936995	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs71942786	chr15:74936995-74936996	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs57469673	chr15:74937014-74937015	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs71137396	chr15:74937015-74937016	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs371748911	chr15:74937016-74937017	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs574246833	chr15:74937035-74937036	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs541647566	chr15:74937054-74937055	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs556987694	chr15:74937129-74937130	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs13379550	chr15:74937133-74937134	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575236072	chr15:74937156-74937157	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs545914439	chr15:74937178-74937179	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs149172918	chr15:74937190-74937191	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs528131764	chr15:74937191-74937192	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs184726881	chr15:74937208-74937209	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs190834505	chr15:74937213-74937214	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs35497312	chr15:74937239-74937240	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs181703725	chr15:74937298-74937299	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs187072958	chr15:74937314-74937315	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs569467628	chr15:74937319-74937320	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs78423553	chr15:74937320-74937321	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs60525627	chr15:74937330-74937331	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs566714245	chr15:74937331-74937332	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs533935594	chr15:74937390-74937391	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs189448780	chr15:74937394-74937395	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs557301752	chr15:74937422-74937423	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs568032987	chr15:74937423-74937424	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs535397173	chr15:74937437-74937438	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs556857744	chr15:74937459-74937460	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs575444738	chr15:74937474-74937475	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74910600-74936400	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr15:74911000-74938000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr15:74911400-74936800	Strong transcription	Dnd41	blood
4	chr15:74911400-74937400	Strong transcription	Primary T cells from cord blood	blood
5	chr15:74920400-74937400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr15:74920800-74945600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:74921200-74937800	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr15:74921800-74936600	Strong transcription	Spleen	Spleen
9	chr15:74921800-74963400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:74924200-74936800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr15:74924600-74937600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr15:74924800-74937400	Strong transcription	HepG2	liver
13	chr15:74928800-74943600	Weak transcription	NHDF-Ad	bronchial
14	chr15:74929200-74963400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr15:74931600-74937400	Strong transcription	Primary B cells from cord blood	blood
16	chr15:74932200-74936800	Genic enhancers	Fetal Intestine Small	intestine
17	chr15:74932800-74945600	Weak transcription	HMEC	breast
18	chr15:74933000-74956200	Weak transcription	A549	lung
19	chr15:74933200-74936400	Enhancers	Fetal Heart	heart
20	chr15:74933200-74936800	Enhancers	Right Atrium	heart
21	chr15:74933200-74937400	Enhancers	Left Ventricle	heart
22	chr15:74933200-74938600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:74933200-74942000	Weak transcription	GM12878-XiMat	blood
24	chr15:74933200-74943600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr15:74933200-74943800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:74933200-74947400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr15:74933200-74963400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr15:74933400-74936400	Enhancers	Osteobl	bone
29	chr15:74933400-74937400	Enhancers	Pancreas	Pancrea
30	chr15:74933400-74942600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr15:74933400-74963200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:74933600-74945600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:74933800-74936400	Enhancers	HUVEC	blood vessel
34	chr15:74933800-74936600	Enhancers	Small Intestine	intestine
35	chr15:74933800-74936800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr15:74933800-74936800	Enhancers	Right Ventricle	heart
37	chr15:74934000-74937400	Enhancers	Fetal Intestine Large	intestine
38	chr15:74934000-74955800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr15:74934200-74941200	Strong transcription	Fetal Stomach	stomach
40	chr15:74934400-74936400	Enhancers	Brain Anterior Caudate	brain
41	chr15:74934400-74936400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr15:74934400-74936600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr15:74934400-74962400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:74934600-74936400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr15:74934600-74936400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:74934600-74936600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:74934600-74936600	Enhancers	Adipose Nuclei	Adipose
48	chr15:74934600-74936800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr15:74934800-74936400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr15:74934800-74936600	Enhancers	HSMMtube	muscle

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