Variant report

Variant	nsv904378
Chromosome Location	chr15:74720443-74723291
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74718075..74720590-chr15:74744935..74747887,2	K562	blood:
2	chr15:74712355..74714244-chr15:74719225..74721195,3	K562	blood:
3	chr15:74720324..74723910-chr15:74723921..74727050,4	MCF-7	breast:
4	chr15:74682334..74683937-chr15:74722563..74724143,2	K562	blood:
5	chr15:74690543..74693238-chr15:74721737..74723787,2	MCF-7	breast:
6	chr15:74711706..74714244-chr15:74719320..74721195,2	K562	blood:
7	chr15:74664841..74669022-chr15:74717731..74721779,3	K562	blood:
8	chr15:74720298..74721801-chr15:74727091..74728921,2	MCF-7	breast:
9	chr15:74673143..74676106-chr15:74720304..74723999,3	K562	blood:
10	chr15:74715079..74717127-chr15:74720885..74723638,2	MCF-7	breast:
11	chr15:74716409..74721225-chr15:74724454..74727081,9	K562	blood:
12	chr15:74687904..74690050-chr15:74721010..74722729,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138623	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	rs368795394	chr15:74720773-74720774	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
13	rs536384195	chr15:74720782-74720783	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
14	rs528137300	chr15:74720790-74720791	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
15	rs554686290	chr15:74720854-74720855	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
16	rs374870248	chr15:74720915-74720916	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
17	rs2415244	chr15:74720954-74720955	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191915759	chr15:74720968-74720969	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
19	rs184165968	chr15:74720989-74720990	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
20	rs187278776	chr15:74721029-74721030	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs60419116	chr15:74721089-74721090	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574720064	chr15:74721106-74721107	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542355276	chr15:74721108-74721109	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs192165236	chr15:74721130-74721131	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530296695	chr15:74721158-74721159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575294945	chr15:74721159-74721160	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs28362873	chr15:74721171-74721172	Weak transcription Enhancers Genic enhancers Flanking Active TSS 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	rs564709372	chr15:74721177-74721178	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532452431	chr15:74721184-74721185	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs28362872	chr15:74721190-74721191	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532888422	chr15:74721200-74721201	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559331327	chr15:74721214-74721215	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs28362871	chr15:74721218-74721219	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs548348272	chr15:74721241-74721242	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs552247101	chr15:74721265-74721266	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs12903353	chr15:74721270-74721271	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534780197	chr15:74721279-74721280	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1370485	chr15:74721286-74721287	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs28362870	chr15:74721295-74721296	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs147908078	chr15:74721297-74721298	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532922009	chr15:74721298-74721299	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551299356	chr15:74721328-74721329	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373883349	chr15:74721370-74721371	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535489717	chr15:74721378-74721379	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141722654	chr15:74721409-74721410	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575357666	chr15:74721471-74721472	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs150457668	chr15:74721502-74721503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187034630	chr15:74721509-74721510	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556917371	chr15:74721520-74721521	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576942649	chr15:74721578-74721579	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' 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:227 , 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	chr15:74709200-74720800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr15:74709200-74724800	Weak transcription	Primary T cells from cord blood	blood
5	chr15:74710000-74722800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:74710200-74722000	Weak transcription	Dnd41	blood
7	chr15:74710400-74721200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr15:74710400-74722800	Enhancers	Brain Hippocampus Middle	brain
9	chr15:74711000-74721000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:74711000-74723200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr15:74711000-74723400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:74713000-74724000	Weak transcription	Gastric	stomach
13	chr15:74713200-74725000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
14	chr15:74713400-74724400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr15:74713400-74725200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr15:74715000-74722600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr15:74715600-74724800	Weak transcription	Lung	lung
18	chr15:74715800-74721000	Weak transcription	Brain Germinal Matrix	brain
19	chr15:74715800-74721800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:74716000-74720800	Weak transcription	Adipose Nuclei	Adipose
21	chr15:74716000-74722000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:74716200-74723400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:74716200-74724000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:74716200-74724800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr15:74716200-74725000	Weak transcription	A549	lung
26	chr15:74716400-74720600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:74716400-74720600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:74716400-74721200	Genic enhancers	Muscle Satellite Cultured Cells	--
29	chr15:74716400-74722000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:74716400-74722200	Genic enhancers	Spleen	Spleen
31	chr15:74716600-74720600	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr15:74716600-74721800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr15:74716600-74725000	Weak transcription	Right Atrium	heart
34	chr15:74716800-74720600	Genic enhancers	HepG2	liver
35	chr15:74717000-74723000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:74717400-74720600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:74717400-74720800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:74717400-74721000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:74717600-74720600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:74717600-74721000	Genic enhancers	HSMM	muscle
41	chr15:74717600-74722400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr15:74717800-74720600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:74717800-74721000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr15:74718000-74721200	Weak transcription	HSMMtube	muscle
45	chr15:74718000-74723400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr15:74718200-74720600	Weak transcription	NHDF-Ad	bronchial
47	chr15:74718200-74721200	Weak transcription	HMEC	breast
48	chr15:74718200-74721800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr15:74718600-74721000	Strong transcription	Fetal Brain Female	brain
50	chr15:74719000-74720600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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