Variant report

Variant	nsv4724
Chromosome Location	chr5:14225543-14243167
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14228783..14230881-chr5:14236364..14239220,3	MCF-7	breast:
2	chr5:14233703..14236263-chr5:14237579..14240063,2	K562	blood:
3	chr5:14145841..14148569-chr5:14229564..14231380,2	K562	blood:
4	chr5:14216252..14219175-chr5:14227535..14229395,2	MCF-7	breast:
5	chr5:14235633..14238119-chr5:14245399..14248312,2	MCF-7	breast:
6	chr5:14143211..14145385-chr5:14226496..14228720,2	K562	blood:
7	chr5:14141771..14143754-chr5:14229153..14231385,2	MCF-7	breast:
8	chr5:14242667..14245241-chr5:14248940..14251910,2	K562	blood:
9	chr5:14220578..14224492-chr5:14225553..14229108,5	MCF-7	breast:
10	chr5:14240499..14242418-chr5:14249798..14252534,2	K562	blood:
11	chr5:14217173..14219209-chr5:14242160..14244276,2	MCF-7	breast:
12	chr5:14227979..14229903-chr5:14232544..14234484,2	K562	blood:
13	chr5:14227979..14229903-chr5:14232544..14234484,2	K562	blood:
14	chr5:14143345..14145815-chr5:14228476..14230365,2	MCF-7	breast:
15	chr5:14224670..14226292-chr5:14228930..14231358,2	MCF-7	breast:
16	chr5:14143875..14146353-chr5:14226756..14228608,4	MCF-7	breast:
17	chr5:14238501..14240091-chr5:14263372..14265550,2	K562	blood:
18	chr5:14143133..14145479-chr5:14237806..14241154,4	MCF-7	breast:
19	chr5:14239498..14242139-chr5:14245502..14247917,2	MCF-7	breast:
20	chr5:14238457..14240756-chr5:14270238..14271962,2	MCF-7	breast:
21	chr5:14242795..14244443-chr5:14250391..14252433,2	MCF-7	breast:
22	chr5:14233703..14236263-chr5:14237579..14240063,2	K562	blood:
23	chr5:14219689..14221561-chr5:14226743..14228313,2	K562	blood:
24	chr5:14190314..14192078-chr5:14242022..14244161,2	MCF-7	breast:
25	chr5:14224670..14226292-chr5:14228930..14231358,2	MCF-7	breast:
26	chr5:14143292..14147216-chr5:14223184..14226021,3	MCF-7	breast:
27	chr5:14239610..14242408-chr5:14243298..14244929,2	MCF-7	breast:
28	chr5:14149488..14151474-chr5:14236779..14238294,2	MCF-7	breast:
29	chr5:14234443..14236446-chr5:14248979..14250681,2	MCF-7	breast:
30	chr5:14238485..14241035-chr5:14265096..14266696,2	MCF-7	breast:
31	chr5:14220084..14222429-chr5:14232339..14235006,2	MCF-7	breast:
32	chr5:14216973..14219606-chr5:14236627..14239606,2	MCF-7	breast:
33	chr5:14143086..14144892-chr5:14234048..14235717,2	MCF-7	breast:
34	chr5:14228783..14230881-chr5:14236364..14239220,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000038382	chromatin interactions

Extended variants
information (count: 641 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:641 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61665335	chr5:14225548-14225549	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs386685698	chr5:14225689-14225690	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542050830	chr5:14225691-14225692	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546282192	chr5:14225692-14225693	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560787794	chr5:14225697-14225698	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs56735399	chr5:14225705-14225706	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185594308	chr5:14225711-14225712	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546554330	chr5:14225748-14225749	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564787057	chr5:14225767-14225768	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114081678	chr5:14225818-14225819	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140235002	chr5:14225898-14225899	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372323239	chr5:14225901-14225902	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140782515	chr5:14225902-14225903	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548241615	chr5:14225903-14225904	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375736384	chr5:14225904-14225905	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200060523	chr5:14225907-14225908	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs56044349	chr5:14225912-14225913	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369947691	chr5:14225931-14225932	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549806529	chr5:14225952-14225953	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561725160	chr5:14226001-14226002	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs61011080	chr5:14226012-14226013	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547270406	chr5:14226025-14226026	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190451628	chr5:14226029-14226030	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565895466	chr5:14226032-14226033	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56140232	chr5:14226064-14226065	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144907932	chr5:14226068-14226069	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565981752	chr5:14226081-14226082	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539335678	chr5:14226088-14226089	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183039633	chr5:14226089-14226090	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187542985	chr5:14226252-14226253	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537800149	chr5:14226283-14226284	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556181016	chr5:14226292-14226293	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574835295	chr5:14226296-14226297	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535975520	chr5:14226314-14226315	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117816895	chr5:14226317-14226318	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192322457	chr5:14226329-14226330	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546441937	chr5:14226351-14226352	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564723940	chr5:14226382-14226383	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146485903	chr5:14226415-14226416	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576820088	chr5:14226430-14226431	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182430592	chr5:14226443-14226444	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs407517	chr5:14226444-14226445	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528959391	chr5:14226473-14226474	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78515287	chr5:14226480-14226481	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559196003	chr5:14226490-14226491	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs354312	chr5:14226533-14226534	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs696290	chr5:14226536-14226537	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs139805121	chr5:14226593-14226594	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187949033	chr5:14226594-14226595	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs1697172	chr5:14226637-14226638	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Intracranial aneurysm	16715129	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14216000-14225800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr5:14216800-14227200	Weak transcription	Hela-S3	cervix
3	chr5:14217000-14234600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:14218400-14230000	Weak transcription	NHEK	skin
5	chr5:14219200-14228800	Enhancers	Fetal Thymus	thymus
6	chr5:14219800-14226000	Weak transcription	Aorta	Aorta
7	chr5:14219800-14226800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:14219800-14227200	Weak transcription	Gastric	stomach
9	chr5:14219800-14229400	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:14219800-14231000	Weak transcription	HMEC	breast
11	chr5:14219800-14231200	Weak transcription	Fetal Stomach	stomach
12	chr5:14220000-14229400	Weak transcription	Brain Angular Gyrus	brain
13	chr5:14220000-14230000	Weak transcription	Fetal Brain Female	brain
14	chr5:14220400-14229400	Weak transcription	Brain Germinal Matrix	brain
15	chr5:14221000-14226000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:14221200-14226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr5:14221200-14227200	Weak transcription	Fetal Lung	lung
18	chr5:14221400-14227200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:14221400-14227400	Weak transcription	Liver	Liver
20	chr5:14221600-14226800	Weak transcription	NHLF	lung
21	chr5:14221600-14227200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:14221800-14230800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:14221800-14231400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:14221800-14249600	Weak transcription	Colonic Mucosa	Colon
25	chr5:14222000-14226800	Enhancers	HUVEC	blood vessel
26	chr5:14222000-14226800	Weak transcription	NHDF-Ad	bronchial
27	chr5:14222600-14226800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:14222600-14228200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:14222600-14228400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:14222800-14225600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:14222800-14225600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:14222800-14227200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:14223200-14225600	Weak transcription	Fetal Intestine Small	intestine
34	chr5:14223400-14226000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:14223400-14229400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:14223400-14230200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr5:14223600-14225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:14223600-14226400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:14223600-14227000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:14223600-14229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:14223600-14230000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:14223800-14225600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:14223800-14225600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:14223800-14225600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:14223800-14225600	Weak transcription	Fetal Muscle Leg	muscle
46	chr5:14223800-14225600	Weak transcription	Right Atrium	heart
47	chr5:14223800-14226000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:14223800-14226000	Weak transcription	Psoas Muscle	Psoas
49	chr5:14223800-14226000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:14223800-14226400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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