Variant report

Variant	nsv878679
Chromosome Location	chr4:9802853-9859897
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	ATF1	chr4:9850013-9850273	K562	blood:	n/a	n/a
2	ATF2	chr4:9814641-9815054	GM12878	blood:	n/a	n/a
3	ATF2	chr4:9809744-9810072	GM12878	blood:	n/a	n/a
4	ATF3	chr4:9849946-9850297	K562	blood:	n/a	n/a
5	BACH1	chr4:9806067-9806321	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr4:9814742-9814999	GM12878	blood:	n/a	n/a
7	BATF	chr4:9814682-9815071	GM12878	blood:	n/a	n/a
8	BATF	chr4:9809777-9810086	GM12878	blood:	n/a	n/a
9	BATF	chr4:9813621-9813815	GM12878	blood:	n/a	n/a
10	BCL11A	chr4:9814677-9815008	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:9814557-9814998	GM12878	blood:	n/a	n/a
12	BCL11A	chr4:9809742-9810117	GM12878	blood:	n/a	n/a
13	BCL11A	chr4:9809752-9810069	GM12878	blood:	n/a	n/a
14	BCL11A	chr4:9851100-9851523	GM12878	blood:	n/a	n/a
15	BCL11A	chr4:9851148-9851550	GM12878	blood:	n/a	n/a
16	BCL3	chr4:9826836-9827129	GM12878	blood:	n/a	n/a
17	BHLHE40	chr4:9809778-9810107	GM12878	blood:	n/a	n/a
18	BHLHE40	chr4:9802635-9802910	GM12878	blood:	n/a	n/a
19	BHLHE40	chr4:9851061-9851588	GM12878	blood:	n/a	n/a
20	BHLHE40	chr4:9809308-9809346	GM12878	blood:	n/a	n/a
21	BHLHE40	chr4:9814583-9815072	GM12878	blood:	n/a	n/a
22	BRCA1	chr4:9829608-9829617	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr4:9849942-9850300	IMR90	lung:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
24	CEBPB	chr4:9849980-9850299	H1-hESC	embryonic stem cell:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
25	CEBPB	chr4:9849869-9850308	HCT-116	colon:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
26	CEBPB	chr4:9849998-9850279	K562	blood:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
27	CEBPB	chr4:9849949-9850302	HepG2	liver:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
28	CEBPB	chr4:9849824-9850326	HCT-116	colon:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
29	CEBPB	chr4:9849900-9850296	K562	blood:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
30	CEBPB	chr4:9849994-9850220	MCF-7	breast:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
31	CEBPB	chr4:9849953-9850289	Hela-S3	cervix:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
32	CEBPB	chr4:9849913-9850318	K562	blood:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
33	CEBPB	chr4:9849993-9850301	A549	lung:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
34	CHD2	chr4:9809751-9810119	GM12878	blood:	n/a	n/a
35	CHD2	chr4:9851191-9851526	GM12878	blood:	n/a	n/a
36	CHD2	chr4:9850691-9850877	GM12878	blood:	n/a	n/a
37	CTCF	chr4:9803971-9804024	GM12878	blood:	n/a	chr4:9804000-9804013
38	CTCF	chr4:9806600-9806750	K562	blood:	n/a	chr4:9806676-9806694 chr4:9806677-9806693
39	CTCF	chr4:9806560-9806710	HEK293	kidney:	n/a	chr4:9806676-9806694 chr4:9806677-9806693
40	CTCF	chr4:9803996-9804037	MCF-7	breast:	n/a	chr4:9804000-9804013
41	CTCF	chr4:9819509-9819532	Fibrobl	skin:	n/a	n/a
42	CTCF	chr4:9806600-9806750	WERI-Rb-1	eye:	n/a	chr4:9806676-9806694 chr4:9806677-9806693
43	CTCF	chr4:9848020-9848170	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr4:9853304-9853339	Lung_OC	lung:	n/a	n/a
45	CTCF	chr4:9806646-9806757	MCF-7	breast:	n/a	chr4:9806676-9806694 chr4:9806677-9806693
46	CTCF	chr4:9852381-9852464	GM12878	blood:	n/a	n/a
47	CTCF	chr4:9806718-9806719	MCF-7	breast:	n/a	n/a
48	CTCF	chr4:9847960-9848110	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr4:9806678-9806725	NHEK	skin:	n/a	n/a
50	CTCF	chr4:9847920-9848070	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:9841356..9843538-chr4:9847251..9848935,2	K562	blood:
2	chr4:9841356..9843538-chr4:9847251..9848935,2	K562	blood:
3	chr4:9827283..9829135-chr4:9829200..9831465,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRD5-13	chr4:9810799-9811038	NONHSAT095145
2	lnc-DRD5-13	chr4:9814207-9814604	NONHSAT095145
3	lnc-DRD5-13	chr4:9807330-9807762	NONHSAT095145

Variant related genes	Relation type
SLC2A9	TF binding region
ENSG00000109667	chromatin interactions

Extended variants
information (count: 2547 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2547 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1519097	chr4:9802853-9802854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577451006	chr4:9802866-9802867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546462141	chr4:9802877-9802878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187884463	chr4:9802958-9802959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372934462	chr4:9802977-9802978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540197256	chr4:9803009-9803010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573845146	chr4:9803022-9803023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561545514	chr4:9803040-9803041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191466118	chr4:9803046-9803047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541035736	chr4:9803074-9803075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182171789	chr4:9803095-9803096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544077843	chr4:9803096-9803097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116533216	chr4:9803107-9803108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563749903	chr4:9803136-9803137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532949613	chr4:9803180-9803181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35730387	chr4:9803184-9803185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73805856	chr4:9803220-9803221	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570899164	chr4:9803240-9803241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187789518	chr4:9803241-9803242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547109184	chr4:9803302-9803303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375347273	chr4:9803310-9803311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376144419	chr4:9803315-9803316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535898826	chr4:9803329-9803330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557679267	chr4:9803342-9803343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73223713	chr4:9803347-9803348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569581574	chr4:9803372-9803373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539991505	chr4:9803383-9803384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368523358	chr4:9803418-9803419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554186216	chr4:9803438-9803439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs60622568	chr4:9803442-9803443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368436344	chr4:9803445-9803446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530960864	chr4:9803461-9803462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192305260	chr4:9803470-9803471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75757130	chr4:9803475-9803476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185236622	chr4:9803477-9803478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371727307	chr4:9803480-9803481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73805857	chr4:9803508-9803509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543844267	chr4:9803515-9803516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562400733	chr4:9803527-9803528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80208552	chr4:9803530-9803531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376474986	chr4:9803536-9803537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544772779	chr4:9803540-9803541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560077255	chr4:9803601-9803602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192861109	chr4:9803630-9803631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376149070	chr4:9803631-9803632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77138280	chr4:9803665-9803666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568582260	chr4:9803679-9803680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367583005	chr4:9803699-9803700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529264856	chr4:9803718-9803719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185072102	chr4:9803789-9803790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
early-passage human iPS cells	21368824	CNVD
Sinonasal adenocarcinoma	21360264	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Obesity	21131291	CNVD
Schizophrenia	23813976	CNVD
Hepatocellular carcinoma	22267523	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9794600-9805800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:9794600-9812600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:9797200-9806400	Weak transcription	HepG2	liver
4	chr4:9798800-9815000	Weak transcription	Lung	lung
5	chr4:9799200-9819600	Weak transcription	HMEC	breast
6	chr4:9802400-9803400	Enhancers	Thymus	Thymus
7	chr4:9802600-9803800	Enhancers	Fetal Thymus	thymus
8	chr4:9803200-9803800	Enhancers	Fetal Muscle Trunk	muscle
9	chr4:9803200-9803800	Enhancers	Fetal Muscle Leg	muscle
10	chr4:9804600-9808800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr4:9805800-9807000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:9806000-9806800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:9806000-9807000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:9806200-9806600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:9806200-9806800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:9806200-9807000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:9806200-9821200	Weak transcription	Fetal Intestine Small	intestine
18	chr4:9806400-9807200	Enhancers	Placenta	Placenta
19	chr4:9806400-9807400	Strong transcription	HepG2	liver
20	chr4:9806600-9807000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:9806800-9807000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:9807000-9808800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr4:9807000-9809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:9807000-9810400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:9807000-9819800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:9807200-9807600	Weak transcription	Placenta	Placenta
27	chr4:9807400-9808600	Weak transcription	HepG2	liver
28	chr4:9807600-9808200	Enhancers	Placenta	Placenta
29	chr4:9808200-9809600	ZNF genes & repeats	Placenta	Placenta
30	chr4:9808200-9832000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:9808400-9809400	Enhancers	Fetal Stomach	stomach
32	chr4:9808600-9813400	Strong transcription	HepG2	liver
33	chr4:9808800-9810800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr4:9808800-9813200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr4:9808800-9834400	Weak transcription	NHEK	skin
36	chr4:9809400-9810000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:9809600-9810000	Enhancers	Fetal Muscle Trunk	muscle
38	chr4:9809600-9810000	Enhancers	Placenta	Placenta
39	chr4:9809600-9810400	Enhancers	Fetal Muscle Leg	muscle
40	chr4:9810000-9830600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:9810400-9811000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:9810800-9811600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr4:9811000-9827000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:9811600-9813000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr4:9812600-9813600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:9813000-9813800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr4:9813000-9814600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr4:9813200-9813400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:9813200-9816000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr4:9813400-9814200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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