Variant report

Variant	nsv822495
Chromosome Location	chr4:15731482-15733386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr4:15731630-15731884	GM12878	blood:	n/a	n/a
2	CEBPB	chr4:15731612-15731870	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr4:15731660-15731890	GM12866	blood:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
4	CTCF	chr4:15731660-15731810	GM12869	blood:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
5	CTCF	chr4:15731513-15731897	MCF-7	breast:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
6	CTCF	chr4:15731675-15731833	GM19239	blood:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
7	CTCF	chr4:15731580-15731730	WI-38	lung:	n/a	n/a
8	CTCF	chr4:15732100-15732250	SAEC	small airway:	n/a	n/a
9	CTCF	chr4:15731640-15731790	HPAF	blood vessel:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
10	CTCF	chr4:15731394-15731496	Medullo	brain:	n/a	n/a
11	CTCF	chr4:15731632-15731836	GM13976	blood:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
12	CTCF	chr4:15731660-15731810	HCPEpiC	choroid plexus:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
13	CTCF	chr4:15731618-15731840	GM10266	blood:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
14	CTCF	chr4:15731611-15731845	Hela-S3	cervix:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
15	CTCF	chr4:15731660-15731810	Hela-S3	cervix:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
16	CTCF	chr4:15731640-15731790	AG10803	skin:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
17	CTCF	chr4:15731640-15731790	AG09319	gingival:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
18	CTCF	chr4:15731640-15731790	BE2_C	brain:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
19	CTCF	chr4:15731717-15731796	GM19238	blood:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
20	CTCF	chr4:15731401-15732068	HCT-116	colon:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
21	CTCF	chr4:15731640-15731790	NHDF-neo	bronchial:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
22	CTCF	chr4:15731640-15731790	Hela-S3	cervix:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
23	CTCF	chr4:15731620-15731770	BJ	skin:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
24	CTCF	chr4:15731640-15731790	HRE	kidney:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
25	CTCF	chr4:15731660-15731810	GM12871	blood:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
26	CTCF	chr4:15731680-15731830	AG09309	skin:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
27	CTCF	chr4:15731363-15731528	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr4:15731560-15731710	A549	lung:	n/a	n/a
29	CTCF	chr4:15731620-15731770	GM12801	blood:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
30	CTCF	chr4:15731700-15731850	HCT-116	colon:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
31	CTCF	chr4:15731680-15731830	HEK293	kidney:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
32	CTCF	chr4:15731640-15731790	HBMEC	blood vessel:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
33	CTCF	chr4:15731605-15731851	LNCaP	prostate:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
34	CTCF	chr4:15731960-15732110	AG04450	lung:	n/a	n/a
35	CTCF	chr4:15731680-15731830	BJ	skin:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
36	CTCF	chr4:15731559-15731906	Spleen_OC	spleen:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
37	CTCF	chr4:15731680-15731830	HFF-Myc	foreskin:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
38	CTCF	chr4:15731620-15731770	GM12866	blood:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
39	CTCF	chr4:15732460-15732610	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr4:15731680-15731830	RPTEC	kidney:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
41	CTCF	chr4:15731980-15732130	GM12874	blood:	n/a	n/a
42	CTCF	chr4:15731620-15731770	GM12867	blood:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
43	CTCF	chr4:15731577-15731874	Lung_OC	lung:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
44	CTCF	chr4:15731800-15731950	WI-38	lung:	n/a	n/a
45	CTCF	chr4:15731640-15731790	HCFaa	heart:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
46	CTCF	chr4:15731640-15731790	HCPEpiC	choroid plexus:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
47	CTCF	chr4:15731625-15731834	A549	lung:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
48	CTCF	chr4:15731620-15731770	AoAF	blood vessel:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741
49	CTCF	chr4:15731880-15732030	GM12865	blood:	n/a	n/a
50	CTCF	chr4:15731640-15731790	HA-sp	spinal cord:	n/a	chr4:15731727-15731748 chr4:15731726-15731742 chr4:15731725-15731743 chr4:15731728-15731741

No.	Distal block	Cell Line	Cell type
1	chr4:15725851..15728771-chr4:15730886..15733232,2	K562	blood:
2	chr4:15683366..15684985-chr4:15730106..15732108,2	K562	blood:
3	chr4:15731707..15732212-chr4:15806910..15807470,2	K562	blood:
4	chr4:15731710..15732220-chr4:15957676..15958189,2	K562	blood:
5	chr4:15731303..15731853-chr4:15757889..15758739,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214846	TF binding region
ENSG00000237765	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142268904	chr4:15731490-15731491	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs74959821	chr4:15731521-15731522	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs16892283	chr4:15731534-15731535	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7667512	chr4:15731560-15731561	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7672311	chr4:15731690-15731691	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs182831666	chr4:15731695-15731696	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374476754	chr4:15731730-15731731	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186804882	chr4:15731802-15731803	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557594226	chr4:15731831-15731832	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577547544	chr4:15731888-15731889	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375813829	chr4:15731964-15731965	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7656652	chr4:15731965-15731966	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs368009054	chr4:15731977-15731978	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573936922	chr4:15732011-15732012	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542953938	chr4:15732063-15732064	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562640401	chr4:15732097-15732098	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529518521	chr4:15732193-15732194	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544672571	chr4:15732253-15732254	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145316326	chr4:15732259-15732260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs16892289	chr4:15732303-15732304	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs79180265	chr4:15732377-15732378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4321629	chr4:15732380-15732381	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529509170	chr4:15732439-15732440	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190837563	chr4:15732451-15732452	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10516290	chr4:15732456-15732457	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs111420494	chr4:15732458-15732459	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372857132	chr4:15732521-15732522	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61278613	chr4:15732538-15732539	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555675209	chr4:15732614-15732615	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183394115	chr4:15732636-15732637	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575533319	chr4:15732648-15732649	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111380485	chr4:15732684-15732685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370167157	chr4:15732733-15732734	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147645603	chr4:15732741-15732742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372958735	chr4:15732745-15732746	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71601491	chr4:15732768-15732769	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10516291	chr4:15732791-15732792	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs16898413	chr4:15732830-15732831	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536523078	chr4:15732843-15732844	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556526469	chr4:15732849-15732850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576288427	chr4:15732857-15732858	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187283729	chr4:15732874-15732875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565092246	chr4:15732936-15732937	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368808076	chr4:15732940-15732941	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12649015	chr4:15733020-15733021	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560085177	chr4:15733022-15733023	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529275687	chr4:15733026-15733027	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4498132	chr4:15733030-15733031	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562881670	chr4:15733061-15733062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531933011	chr4:15733068-15733069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15705000-15735200	Weak transcription	Lung	lung
2	chr4:15707400-15742800	Weak transcription	Primary B cells from cord blood	blood
3	chr4:15708800-15739400	Weak transcription	Ovary	ovary
4	chr4:15709400-15731800	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:15719400-15735800	Weak transcription	NHDF-Ad	bronchial
6	chr4:15719800-15736600	Weak transcription	Spleen	Spleen
7	chr4:15723000-15734600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr4:15723000-15743000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:15723000-15744600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:15724000-15732000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:15726000-15737400	Weak transcription	NHLF	lung
12	chr4:15726000-15740200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:15727200-15731800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:15727200-15732800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:15727400-15740400	Weak transcription	Fetal Intestine Large	intestine
16	chr4:15728000-15731800	Weak transcription	Thymus	Thymus
17	chr4:15728200-15731600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:15728200-15731800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:15729000-15743200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:15731000-15732800	Weak transcription	Fetal Intestine Small	intestine
21	chr4:15731200-15731600	Weak transcription	Fetal Thymus	thymus
22	chr4:15731200-15737200	Enhancers	Dnd41	blood
23	chr4:15731400-15732600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:15731600-15732000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr4:15731600-15732400	Enhancers	Fetal Thymus	thymus
26	chr4:15731800-15732000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr4:15731800-15732000	Enhancers	Brain Angular Gyrus	brain
28	chr4:15731800-15732000	Enhancers	Brain Hippocampus Middle	brain
29	chr4:15731800-15732200	Enhancers	NHEK	skin
30	chr4:15731800-15732400	Enhancers	Primary T cells from cord blood	blood
31	chr4:15731800-15732400	Enhancers	Primary hematopoietic stem cells	blood
32	chr4:15731800-15732400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:15731800-15732400	Enhancers	Thymus	Thymus
34	chr4:15732000-15732400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr4:15732000-15732400	Enhancers	HMEC	breast
36	chr4:15732000-15738800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:15732400-15735200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:15732400-15735200	Weak transcription	Fetal Thymus	thymus
39	chr4:15732400-15735600	Weak transcription	Primary T cells from cord blood	blood
40	chr4:15732400-15735600	Weak transcription	Thymus	Thymus
41	chr4:15732400-15735800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:15732600-15735200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:15732800-15733600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:15732800-15735400	Strong transcription	Fetal Intestine Small	intestine

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