Variant report

Variant	nsv878682
Chromosome Location	chr4:9826870-9857956
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	ATF3	chr4:9849946-9850297	K562	blood:	n/a	n/a
3	BCL11A	chr4:9851148-9851550	GM12878	blood:	n/a	n/a
4	BCL11A	chr4:9851100-9851523	GM12878	blood:	n/a	n/a
5	BCL3	chr4:9826836-9827129	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:9851061-9851588	GM12878	blood:	n/a	n/a
7	BRCA1	chr4:9829608-9829617	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr4:9849994-9850220	MCF-7	breast:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
9	CEBPB	chr4:9849980-9850299	H1-hESC	embryonic stem cell:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
10	CEBPB	chr4:9849993-9850301	A549	lung:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
11	CEBPB	chr4:9849949-9850302	HepG2	liver:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
12	CEBPB	chr4:9849942-9850300	IMR90	lung:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
13	CEBPB	chr4:9849869-9850308	HCT-116	colon:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
14	CEBPB	chr4:9849953-9850289	Hela-S3	cervix:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
15	CEBPB	chr4:9849998-9850279	K562	blood:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
16	CEBPB	chr4:9849824-9850326	HCT-116	colon:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
17	CEBPB	chr4:9849913-9850318	K562	blood:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
18	CEBPB	chr4:9849900-9850296	K562	blood:	n/a	chr4:9850045-9850056 chr4:9850120-9850131
19	CHD2	chr4:9851191-9851526	GM12878	blood:	n/a	n/a
20	CHD2	chr4:9850691-9850877	GM12878	blood:	n/a	n/a
21	CTCF	chr4:9847975-9848130	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr4:9848690-9848729	LNCaP	prostate:	n/a	n/a
23	CTCF	chr4:9853304-9853339	Lung_OC	lung:	n/a	n/a
24	CTCF	chr4:9847920-9848070	HepG2	liver:	n/a	n/a
25	CTCF	chr4:9852381-9852464	GM12878	blood:	n/a	n/a
26	CTCF	chr4:9848020-9848170	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr4:9848000-9848150	GM12872	blood:	n/a	n/a
28	CTCF	chr4:9847960-9848110	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr4:9847920-9848070	WERI-Rb-1	eye:	n/a	n/a
30	CUX1	chr4:9846157-9846350	GM12878	blood:	n/a	n/a
31	CUX1	chr4:9851034-9851634	GM12878	blood:	n/a	n/a
32	CUX1	chr4:9841905-9842083	GM12878	blood:	n/a	n/a
33	CUX1	chr4:9827083-9827283	GM12878	blood:	n/a	n/a
34	E2F4	chr4:9856606-9856910	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr4:9830042-9830666	MCF10A-Er-Src	breast:	n/a	n/a
36	EBF1	chr4:9830537-9830752	GM12878	blood:	n/a	chr4:9830672-9830682 chr4:9830670-9830683 chr4:9830672-9830681 chr4:9830670-9830681 chr4:9830672-9830681
37	EBF1	chr4:9836955-9837331	GM12878	blood:	n/a	n/a
38	EBF1	chr4:9850854-9852222	GM12878	blood:	n/a	n/a
39	EBF1	chr4:9830516-9830857	GM12878	blood:	n/a	chr4:9830672-9830682 chr4:9830670-9830683 chr4:9830672-9830681 chr4:9830670-9830681 chr4:9830672-9830681
40	EBF1	chr4:9826819-9827134	GM12878	blood:	n/a	n/a
41	ELK1	chr4:9829919-9829966	GM12878	blood:	n/a	n/a
42	ELK1	chr4:9833792-9833825	Hela-S3	cervix:	n/a	n/a
43	EP300	chr4:9851030-9851620	GM12878	blood:	n/a	chr4:9851550-9851564
44	EP300	chr4:9851050-9851564	GM12878	blood:	n/a	chr4:9851550-9851564
45	EP300	chr4:9850030-9850301	K562	blood:	n/a	n/a
46	EP300	chr4:9851085-9851579	GM12878	blood:	n/a	chr4:9851550-9851564
47	EP300	chr4:9826645-9827273	GM12878	blood:	n/a	n/a
48	EP300	chr4:9826905-9826948	GM12878	blood:	n/a	n/a
49	FOS	chr4:9856414-9856589	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr4:9826887-9827125	MCF10A-Er-Src	breast:	n/a	n/a

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

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

Extended variants
information (count: 1392 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1392 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4621429	chr4:9826870-9826871	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189054362	chr4:9826917-9826918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534069929	chr4:9826938-9826939	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377469378	chr4:9826991-9826992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567371985	chr4:9826992-9826993	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538142368	chr4:9826994-9826995	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115947204	chr4:9827033-9827034	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181552377	chr4:9827050-9827051	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185623560	chr4:9827099-9827100	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539244446	chr4:9827139-9827140	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386671545	chr4:9827155-9827156	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201133725	chr4:9827156-9827157	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148562302	chr4:9827157-9827158	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369271884	chr4:9827169-9827170	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62295670	chr4:9827172-9827173	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35759883	chr4:9827179-9827180	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371224203	chr4:9827202-9827203	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553553588	chr4:9827273-9827274	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572083598	chr4:9827281-9827282	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189940638	chr4:9827323-9827324	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542790283	chr4:9827343-9827344	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560858483	chr4:9827481-9827482	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576115849	chr4:9827515-9827516	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543692611	chr4:9827537-9827538	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs938557	chr4:9827556-9827557	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549878911	chr4:9827589-9827590	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371203430	chr4:9827628-9827629	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180859433	chr4:9827629-9827630	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371602767	chr4:9827632-9827633	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111430301	chr4:9827635-9827636	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199527634	chr4:9827684-9827685	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150828093	chr4:9827730-9827731	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75815764	chr4:9827738-9827739	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549109717	chr4:9827762-9827763	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139283693	chr4:9827767-9827768	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537852518	chr4:9827775-9827776	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550035001	chr4:9827892-9827893	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144294717	chr4:9827911-9827912	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538990095	chr4:9827918-9827919	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377314168	chr4:9827969-9827970	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370703629	chr4:9827971-9827972	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200281070	chr4:9827978-9827979	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368486099	chr4:9828003-9828004	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370977021	chr4:9828008-9828009	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185963043	chr4:9828019-9828020	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144718252	chr4:9828021-9828022	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138578907	chr4:9828027-9828028	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146590565	chr4:9828045-9828046	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543455254	chr4:9828066-9828067	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377541962	chr4:9828077-9828078	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9808200-9832000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:9808800-9834400	Weak transcription	NHEK	skin
3	chr4:9810000-9830600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:9811000-9827000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:9820200-9842600	Weak transcription	HMEC	breast
6	chr4:9820400-9833400	Weak transcription	Esophagus	oesophagus
7	chr4:9821000-9832400	Weak transcription	Liver	Liver
8	chr4:9821600-9833200	Weak transcription	Fetal Intestine Small	intestine
9	chr4:9822400-9828400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:9823800-9836400	Weak transcription	Left Ventricle	heart
11	chr4:9824000-9832400	Weak transcription	Fetal Intestine Large	intestine
12	chr4:9824400-9828400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr4:9825800-9835000	Weak transcription	Aorta	Aorta
14	chr4:9826400-9827600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:9826400-9827600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:9826400-9827600	Enhancers	Fetal Thymus	thymus
17	chr4:9826400-9837600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:9826600-9827200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr4:9826600-9827400	Enhancers	Thymus	Thymus
20	chr4:9826600-9828600	Strong transcription	HepG2	liver
21	chr4:9826800-9827000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:9827000-9827400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:9827000-9827600	Enhancers	Primary hematopoietic stem cells	blood
24	chr4:9827000-9832400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:9827400-9827600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:9827600-9832600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:9828400-9829800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr4:9828400-9829800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr4:9828600-9829000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr4:9828600-9832000	Weak transcription	HepG2	liver
31	chr4:9829800-9830400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr4:9829800-9839000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr4:9830400-9832200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr4:9830600-9836600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:9831600-9840600	Weak transcription	Pancreas	Pancrea
36	chr4:9832000-9833600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr4:9832000-9837200	Strong transcription	HepG2	liver
38	chr4:9832200-9835000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:9832200-9839600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr4:9832400-9833600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr4:9832400-9835000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:9832400-9836400	Strong transcription	Liver	Liver
43	chr4:9832400-9836600	Strong transcription	Fetal Intestine Large	intestine
44	chr4:9832600-9836400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:9833200-9833400	ZNF genes & repeats	Lung	lung
46	chr4:9833200-9835800	Strong transcription	Fetal Intestine Small	intestine
47	chr4:9833400-9833600	Strong transcription	Esophagus	oesophagus
48	chr4:9833400-9833600	Enhancers	Right Atrium	heart
49	chr4:9833400-9836400	Weak transcription	Lung	lung
50	chr4:9833600-9833800	Weak transcription	Esophagus	oesophagus

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