Variant report

Variant	nsv293242
Chromosome Location	chr4:1187501-1187658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1184548..1187736-chr4:1238018..1240467,3	MCF-7	breast:
2	chr4:1185381..1187525-chr4:1340358..1342125,2	MCF-7	breast:
3	chr4:1186052..1187748-chr4:1201395..1203257,2	MCF-7	breast:
4	chr4:1184524..1188288-chr4:1189754..1192117,3	MCF-7	breast:
5	chr4:1172668..1175501-chr4:1185968..1187625,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159674	chromatin interactions
ENSG00000163945	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62293581	chr4:1187502-1187503	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs62293582	chr4:1187510-1187511	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs62293583	chr4:1187511-1187512	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs62293584	chr4:1187516-1187517	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs185858997	chr4:1187522-1187523	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563974743	chr4:1187531-1187532	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs71614953	chr4:1187535-1187536	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146757031	chr4:1187539-1187540	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs76801804	chr4:1187541-1187542	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188800952	chr4:1187553-1187554	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs62293585	chr4:1187565-1187566	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577714990	chr4:1187602-1187603	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369557263	chr4:1187635-1187636	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113913254	chr4:1187648-1187649	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance

Variant related diseases (count:61)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1178400-1189600	Weak transcription	Dnd41	blood
2	chr4:1180800-1194000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr4:1181200-1193400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr4:1181200-1193600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr4:1181600-1190000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr4:1181600-1190000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:1181600-1193600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:1182600-1190200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:1184400-1194000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:1185000-1204200	Enhancers	Fetal Muscle Leg	muscle
11	chr4:1185200-1188000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr4:1185200-1188000	Enhancers	Stomach Mucosa	stomach
13	chr4:1185200-1188200	Enhancers	Fetal Muscle Trunk	muscle
14	chr4:1185200-1188400	Enhancers	Ovary	ovary
15	chr4:1185200-1189600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:1185200-1190000	Enhancers	Fetal Stomach	stomach
17	chr4:1185200-1190400	Bivalent Enhancer	Placenta	Placenta
18	chr4:1185400-1187800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr4:1185400-1187800	Enhancers	Spleen	Spleen
20	chr4:1185400-1188000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:1185400-1188200	Enhancers	Pancreas	Pancrea
22	chr4:1185400-1188200	Enhancers	Right Atrium	heart
23	chr4:1185400-1188400	Enhancers	Liver	Liver
24	chr4:1185400-1188400	Enhancers	Fetal Intestine Small	intestine
25	chr4:1185400-1188400	Enhancers	Left Ventricle	heart
26	chr4:1185400-1188400	Enhancers	Lung	lung
27	chr4:1185400-1188600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:1185400-1188600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:1185400-1188600	Enhancers	Brain Angular Gyrus	brain
30	chr4:1185400-1188600	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr4:1185400-1188600	Enhancers	NH-A	brain
32	chr4:1185400-1188800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:1185400-1189200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:1185400-1189200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr4:1185400-1189200	Enhancers	Brain Cingulate Gyrus	brain
36	chr4:1185400-1190400	Enhancers	Right Ventricle	heart
37	chr4:1185600-1187800	Enhancers	Aorta	Aorta
38	chr4:1185600-1188400	Enhancers	Fetal Intestine Large	intestine
39	chr4:1185600-1189200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:1185800-1196200	Weak transcription	Small Intestine	intestine
41	chr4:1186400-1188600	Enhancers	NHDF-Ad	bronchial
42	chr4:1186800-1187800	Enhancers	Colon Smooth Muscle	Colon
43	chr4:1186800-1187800	Enhancers	Osteobl	bone
44	chr4:1186800-1188000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:1186800-1188000	Enhancers	Duodenum Mucosa	Duodenum
46	chr4:1186800-1188600	Enhancers	Fetal Heart	heart
47	chr4:1186800-1189400	Enhancers	Brain Hippocampus Middle	brain
48	chr4:1187000-1187600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr4:1187000-1187800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:1187000-1187800	Enhancers	Skeletal Muscle Male	skeletal muscle

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