Variant report

Variant	nsv510630
Chromosome Location	chr14:24462906-24489248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:481)
CpG islands
(count:428)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:24483172-24483507	K562	blood:	n/a	n/a
2	ARID3A	chr14:24483175-24483522	HepG2	liver:	n/a	n/a
3	BACH1	chr14:24476252-24476312	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr14:24475943-24476541	HepG2	liver:	n/a	n/a
5	BHLHE40	chr14:24483187-24483465	GM12878	blood:	n/a	n/a
6	BHLHE40	chr14:24483227-24483438	K562	blood:	n/a	n/a
7	BRCA1	chr14:24483351-24483423	GM12878	blood:	n/a	n/a
8	CBX3	chr14:24476155-24476416	K562	blood:	n/a	n/a
9	CBX3	chr14:24483218-24483539	K562	blood:	n/a	n/a
10	CBX3	chr14:24483227-24483553	K562	blood:	n/a	n/a
11	CEBPB	chr14:24482978-24483461	A549	lung:	n/a	n/a
12	CEBPD	chr14:24475992-24476248	HepG2	liver:	n/a	n/a
13	CHD1	chr14:24483316-24483498	GM12878	blood:	n/a	n/a
14	CHD2	chr14:24483281-24483447	GM12878	blood:	n/a	n/a
15	CTCF	chr14:24483200-24483477	HepG2	liver:	n/a	n/a
16	CTCF	chr14:24483280-24483430	AG09319	gingival:	n/a	n/a
17	CTCF	chr14:24482940-24483090	GM12878	blood:	n/a	n/a
18	CTCF	chr14:24483260-24483410	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr14:24483280-24483430	GM06990	blood:	n/a	n/a
20	CTCF	chr14:24483260-24483410	GM12873	blood:	n/a	n/a
21	CTCF	chr14:24483266-24483449	MCF-7	breast:	n/a	n/a
22	CTCF	chr14:24483260-24483410	HMF	breast:	n/a	n/a
23	CTCF	chr14:24483167-24483547	K562	blood:	n/a	n/a
24	CTCF	chr14:24483260-24483410	GM12872	blood:	n/a	n/a
25	CTCF	chr14:24483240-24483390	AG04450	lung:	n/a	n/a
26	CTCF	chr14:24483121-24483562	IMR90	lung:	n/a	n/a
27	CTCF	chr14:24470400-24470550	MCF-7	breast:	n/a	n/a
28	CTCF	chr14:24483240-24483390	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr14:24483260-24483410	AG04449	skin:	n/a	n/a
30	CTCF	chr14:24483210-24483472	Fibrobl	skin:	n/a	n/a
31	CTCF	chr14:24483240-24483390	GM12866	blood:	n/a	n/a
32	CTCF	chr14:24483300-24483450	GM12866	blood:	n/a	n/a
33	CTCF	chr14:24483100-24483250	A549	lung:	n/a	n/a
34	CTCF	chr14:24483195-24483455	GM10266	blood:	n/a	n/a
35	CTCF	chr14:24489140-24489290	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr14:24483196-24483488	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:24482934-24483792	SK-N-SH	brain:	n/a	n/a
38	CTCF	chr14:24489240-24489390	MCF-7	breast:	n/a	n/a
39	CTCF	chr14:24483220-24483370	GM12869	blood:	n/a	n/a
40	CTCF	chr14:24483230-24483430	GM13976	blood:	n/a	n/a
41	CTCF	chr14:24483148-24483566	K562	blood:	n/a	n/a
42	CTCF	chr14:24483237-24483466	GM19239	blood:	n/a	n/a
43	CTCF	chr14:24483240-24483390	GM12874	blood:	n/a	n/a
44	CTCF	chr14:24483240-24483390	AG04449	skin:	n/a	n/a
45	CTCF	chr14:24483240-24483390	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr14:24483240-24483390	NHLF	lung:	n/a	n/a
47	CTCF	chr14:24483260-24483410	BJ	skin:	n/a	n/a
48	CTCF	chr14:24483260-24483410	HCFaa	heart:	n/a	n/a
49	CTCF	chr14:24483280-24483430	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr14:24482840-24482990	AG10803	skin:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24473832-24473882	MCF-7	breast:	n/a
2	chr14:24473832-24473882	MCF-7	breast:	n/a
3	chr14:24476559-24476609	NHDF-neo	bronchial:	n/a
4	chr14:24476478-24476528	Jurkat	blood:	n/a
5	chr14:24475053-24475103	HEK293	kidney:	embryo
6	chr14:24476478-24476528	NH-A	brain:	n/a
7	chr14:24478620-24478670	AG10803	skin:	n/a
8	chr14:24476478-24476528	ProgFib	skin:	n/a
9	chr14:24476559-24476609	HNPCEpiC	eye:	n/a
10	chr14:24475906-24475956	BE2_C	brain:	n/a
11	chr14:24478620-24478670	AG04449	skin:	fetal
12	chr14:24473832-24473882	PrEC	prostate:	n/a
13	chr14:24476082-24476132	HEEpiC	esophagus:	n/a
14	chr14:24476559-24476609	U87	brain:	n/a
15	chr14:24476082-24476132	NHBE	bronchial:	n/a
16	chr14:24473832-24473882	HEK293	kidney:	embryo
17	chr14:24476478-24476528	NHBE	bronchial:	n/a
18	chr14:24475053-24475103	GM12878	blood:	n/a
19	chr14:24476478-24476528	SK-N-SH	brain:	n/a
20	chr14:24476082-24476132	HPAEpiC	pulmonary alveolar:	n/a
21	chr14:24475053-24475103	HEEpiC	esophagus:	n/a
22	chr14:24475906-24475956	HepG2	liver:	n/a
23	chr14:24476478-24476528	MCF10A-Er-Src	breast:	n/a
24	chr14:24475053-24475103	U87	brain:	n/a
25	chr14:24476082-24476132	SKMC	muscle:	n/a
26	chr14:24476559-24476609	ProgFib	skin:	n/a
27	chr14:24476082-24476132	HCT-116	colon:	n/a
28	chr14:24473832-24473882	GM12878	blood:	n/a
29	chr14:24476559-24476609	BJ	skin:	n/a
30	chr14:24473832-24473882	GM12892	blood:	n/a
31	chr14:24473832-24473882	CMK	blood:	n/a
32	chr14:24475906-24475956	PFSK-1	brain:	n/a
33	chr14:24478620-24478670	AG09319	gingival:	n/a
34	chr14:24475053-24475103	A549	lung:	n/a
35	chr14:24478620-24478670	AoSMC	blood vessel:	n/a
36	chr14:24476082-24476132	HAEpiC	amniotic membrane:	n/a
37	chr14:24478620-24478670	HAEpiC	amniotic membrane:	n/a
38	chr14:24475053-24475103	Jurkat	blood:	n/a
39	chr14:24476559-24476609	HCT-116	colon:	n/a
40	chr14:24475906-24475956	AG04449	skin:	fetal
41	chr14:24476082-24476132	U87	brain:	n/a
42	chr14:24478620-24478670	HNPCEpiC	eye:	n/a
43	chr14:24476478-24476528	Hela-S3	cervix:	n/a
44	chr14:24478620-24478670	ovcar-3	ovarian:	n/a
45	chr14:24475906-24475956	HRE	kidney:	n/a
46	chr14:24478620-24478670	U87	brain:	n/a
47	chr14:24475053-24475103	AG04449	skin:	fetal
48	chr14:24476478-24476528	HEK293	kidney:	embryo
49	chr14:24475906-24475956	U87	brain:	n/a
50	chr14:24476478-24476528	GM19239	blood:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24482858..24483785-chr14:24559502..24560237,2	K562	blood:
2	chr14:24482802..24483800-chr14:24505642..24506553,4	MCF-7	breast:
3	chr14:24482946..24483934-chr14:24503845..24504435,3	MCF-7	breast:
4	chr14:24421533..24423333-chr14:24480435..24482151,2	K562	blood:
5	chr14:24483165..24483827-chr14:24559565..24560642,4	MCF-7	breast:
6	chr14:24483262..24483795-chr14:24906005..24906586,2	K562	blood:
7	chr14:24482840..24483718-chr14:24710880..24711620,2	MCF-7	breast:
8	chr14:24476695..24479385-chr14:24563251..24564763,2	MCF-7	breast:
9	chr14:24482659..24484974-chr14:24503307..24504865,2	MCF-7	breast:

No data

Variant related genes	Relation type
DHRS4-AS1	TF binding region
DHRS4L2	TF binding region
DHRS4-AS1	CpG island
DHRS4L2	CpG island
ENSG00000225766	chromatin interactions
ENSG00000100889	chromatin interactions
ENSG00000157326	chromatin interactions
ENSG00000215256	chromatin interactions
ENSG00000092330	chromatin interactions
ENSG00000129535	chromatin interactions

Extended variants
information (count: 1236 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1236 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575998664	chr14:24462907-24462908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144768899	chr14:24462920-24462921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192070223	chr14:24462933-24462934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372906433	chr14:24462969-24462970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571840481	chr14:24462970-24462971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540813833	chr14:24462973-24462974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567803536	chr14:24463009-24463010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113414130	chr14:24463016-24463017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577833680	chr14:24463039-24463040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144450400	chr14:24463049-24463050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146574006	chr14:24463050-24463051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs55777341	chr14:24463083-24463084	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369569635	chr14:24463098-24463099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548630156	chr14:24463119-24463120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562148352	chr14:24463129-24463130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574434380	chr14:24463160-24463161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527801308	chr14:24463163-24463164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184909793	chr14:24463164-24463165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143563258	chr14:24463165-24463166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569571601	chr14:24463175-24463176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533259846	chr14:24463177-24463178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539705013	chr14:24463197-24463198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9323438	chr14:24463240-24463241	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs578244050	chr14:24463247-24463248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202108538	chr14:24463297-24463298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570300412	chr14:24463308-24463309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151253175	chr14:24463318-24463319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545462527	chr14:24463322-24463323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs55691977	chr14:24463339-24463340	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150378308	chr14:24463382-24463383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56166780	chr14:24463415-24463416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557625257	chr14:24463428-24463429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577757334	chr14:24463436-24463437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543296658	chr14:24463454-24463455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563573766	chr14:24463481-24463482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574018339	chr14:24463536-24463537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542209840	chr14:24463543-24463544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112490030	chr14:24463589-24463590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142168252	chr14:24463602-24463603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370149886	chr14:24463618-24463619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547921931	chr14:24463644-24463645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116920173	chr14:24463655-24463656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533570142	chr14:24463662-24463663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550135119	chr14:24463663-24463664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192393854	chr14:24463671-24463672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61999852	chr14:24463685-24463686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548544146	chr14:24463699-24463700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184252368	chr14:24463733-24463734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567317704	chr14:24463744-24463745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371563000	chr14:24463768-24463769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21390271	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24458800-24476000	Weak transcription	Fetal Intestine Small	intestine
2	chr14:24459000-24475200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:24459200-24464400	Weak transcription	Thymus	Thymus
4	chr14:24459200-24470400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:24459200-24476000	Weak transcription	Liver	Liver
6	chr14:24459400-24464400	Weak transcription	Hela-S3	cervix
7	chr14:24459400-24475800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr14:24459600-24465000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:24459600-24465000	Weak transcription	Lung	lung
10	chr14:24459600-24474800	Weak transcription	Dnd41	blood
11	chr14:24459800-24464400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:24460800-24464400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:24462400-24463600	Enhancers	Fetal Brain Female	brain
14	chr14:24464400-24464600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr14:24464400-24464800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr14:24464600-24465200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:24465200-24465400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr14:24470200-24470400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr14:24470200-24470800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:24470200-24471200	Enhancers	Primary B cells from peripheral blood	blood
21	chr14:24470400-24470800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr14:24470400-24470800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr14:24470800-24471200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr14:24470800-24475000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr14:24471200-24475000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr14:24471200-24475000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr14:24472800-24476000	Weak transcription	Pancreas	Pancrea
28	chr14:24474000-24475800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:24474800-24475000	Enhancers	Primary B cells from cord blood	blood
30	chr14:24474800-24475000	Enhancers	Fetal Brain Female	brain
31	chr14:24474800-24475200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr14:24474800-24475400	Enhancers	Dnd41	blood
33	chr14:24475000-24475200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr14:24475000-24475200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr14:24475000-24475200	Enhancers	Brain Hippocampus Middle	brain
36	chr14:24475000-24475200	Enhancers	GM12878-XiMat	blood
37	chr14:24475000-24475200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr14:24475000-24475800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr14:24475000-24475800	Enhancers	Primary B cells from peripheral blood	blood
40	chr14:24475000-24475800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr14:24475000-24475800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr14:24475000-24475800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr14:24475000-24475800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr14:24475000-24475800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:24475000-24475800	Enhancers	Fetal Muscle Leg	muscle
46	chr14:24475000-24475800	Enhancers	Stomach Smooth Muscle	stomach
47	chr14:24475000-24476000	Weak transcription	Primary B cells from cord blood	blood
48	chr14:24475200-24475600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr14:24475200-24475800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr14:24475200-24475800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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