Variant report

Variant	nsv593708
Chromosome Location	chr4:10240178-10271645
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	ARID3A	chr4:10241023-10241142	K562	blood:	n/a	n/a
2	ARID3A	chr4:10242016-10242400	K562	blood:	n/a	n/a
3	ARID3A	chr4:10258670-10258802	K562	blood:	n/a	n/a
4	ATF1	chr4:10241521-10242349	K562	blood:	n/a	n/a
5	ATF3	chr4:10241484-10241931	K562	blood:	n/a	chr4:10241683-10241696
6	BACH1	chr4:10258150-10258286	K562	blood:	n/a	n/a
7	BHLHE40	chr4:10241629-10242291	K562	blood:	n/a	n/a
8	BHLHE40	chr4:10258626-10258818	K562	blood:	n/a	n/a
9	BHLHE40	chr4:10257932-10258036	K562	blood:	n/a	n/a
10	CCNT2	chr4:10241954-10242255	K562	blood:	n/a	n/a
11	CEBPB	chr4:10255615-10255721	K562	blood:	n/a	n/a
12	CEBPB	chr4:10267329-10267510	HepG2	liver:	n/a	chr4:10267446-10267457
13	CEBPB	chr4:10267288-10267523	A549	lung:	n/a	chr4:10267446-10267457
14	CEBPD	chr4:10241866-10242444	K562	blood:	n/a	n/a
15	CEBPD	chr4:10241894-10242416	K562	blood:	n/a	n/a
16	CHD2	chr4:10241787-10242039	K562	blood:	n/a	n/a
17	CHD2	chr4:10256718-10256724	K562	blood:	n/a	n/a
18	CTCF	chr4:10251598-10251690	GM12892	blood:	n/a	chr4:10251600-10251608
19	CTCF	chr4:10262400-10262550	SAEC	small airway:	n/a	n/a
20	CTCF	chr4:10262420-10262570	HRE	kidney:	n/a	n/a
21	CTCF	chr4:10262500-10262650	K562	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
22	CTCF	chr4:10262480-10262630	GM12870	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
23	CTCF	chr4:10266760-10266910	GM12867	blood:	n/a	n/a
24	CTCF	chr4:10262475-10262725	K562	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
25	CTCF	chr4:10262532-10262673	NHEK	skin:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
26	CTCF	chr4:10258700-10258850	HepG2	liver:	n/a	chr4:10258785-10258803 chr4:10258780-10258801 chr4:10258790-10258798
27	CTCF	chr4:10255120-10255270	GM12872	blood:	n/a	n/a
28	CTCF	chr4:10262529-10262642	GM19238	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
29	CTCF	chr4:10251659-10251666	GM19238	blood:	n/a	n/a
30	CTCF	chr4:10242115-10242149	K562	blood:	n/a	n/a
31	CTCF	chr4:10262526-10262596	Spleen_OC	spleen:	n/a	chr4:10262578-10262587 chr4:10262575-10262593
32	CTCF	chr4:10258777-10258836	MCF-7	breast:	n/a	chr4:10258785-10258803 chr4:10258780-10258801 chr4:10258790-10258798
33	CTCF	chr4:10251519-10251706	K562	blood:	n/a	chr4:10251600-10251608
34	CTCF	chr4:10262356-10262760	K562	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
35	CTCF	chr4:10251606-10251683	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr4:10258598-10258972	K562	blood:	n/a	chr4:10258785-10258803 chr4:10258780-10258801 chr4:10258790-10258798
37	CTCF	chr4:10251570-10251692	GM12878	blood:	n/a	chr4:10251600-10251608
38	CTCF	chr4:10251600-10251750	GM06990	blood:	n/a	chr4:10251600-10251608
39	CTCF	chr4:10262520-10262670	HCT-116	colon:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
40	CTCF	chr4:10258736-10258876	K562	blood:	n/a	chr4:10258785-10258803 chr4:10258780-10258801 chr4:10258790-10258798
41	CTCF	chr4:10262540-10262690	GM12871	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
42	CTCF	chr4:10262580-10262730	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr4:10256980-10257130	GM12864	blood:	n/a	n/a
44	CTCF	chr4:10262500-10262650	SAEC	small airway:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
45	CTCF	chr4:10262280-10262430	GM12871	blood:	n/a	n/a
46	CTCF	chr4:10250780-10250930	HEK293	kidney:	n/a	chr4:10250894-10250903
47	CTCF	chr4:10262528-10262612	GM19240	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
48	CTCF	chr4:10262555-10262621	MCF-7	breast:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
49	CTCF	chr4:10262540-10262690	GM12873	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
50	CTCF	chr4:10251607-10251686	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
2	chr4:10244335..10247662-chr4:10255817..10258798,3	K562	blood:
3	chr4:10266886..10269236-chr4:10273082..10275523,2	K562	blood:
4	chr4:10240628..10243680-chr4:10247596..10249776,3	K562	blood:
5	chr4:10249783..10252189-chr4:10254326..10257178,3	K562	blood:
6	chr4:10119817..10122040-chr4:10243013..10245878,2	K562	blood:
7	chr4:10255171..10260191-chr4:10262748..10268904,8	K562	blood:
8	chr4:10254662..10256804-chr4:10260995..10262728,2	K562	blood:
9	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
10	chr4:10249783..10252189-chr4:10254326..10257178,3	K562	blood:
11	chr4:10174527..10176209-chr4:10240126..10241692,2	K562	blood:
12	chr4:10240628..10243680-chr4:10247596..10249776,3	K562	blood:
13	chr4:10266281..10269337-chr4:10269908..10272870,3	K562	blood:
14	chr4:10250648..10253943-chr4:10254760..10258340,4	K562	blood:
15	chr4:10266281..10269337-chr4:10269908..10272870,3	K562	blood:
16	chr4:10239005..10240530-chr4:10240711..10243694,2	K562	blood:
17	chr4:10181292..10183606-chr4:10239969..10241672,2	K562	blood:
18	chr4:10182716..10185413-chr4:10249318..10252021,2	K562	blood:
19	chr4:10251447..10253119-chr4:10260352..10263035,2	K562	blood:
20	chr4:10262775..10265010-chr4:10265780..10268025,2	K562	blood:
21	chr4:10262775..10265010-chr4:10265780..10268025,2	K562	blood:
22	chr4:10119817..10121406-chr4:10243789..10245878,2	K562	blood:
23	chr4:10254361..10256671-chr4:10262474..10264248,2	K562	blood:
24	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
25	chr4:10257186..10261463-chr4:10263373..10268480,7	K562	blood:
26	chr4:10117355..10119664-chr4:10257217..10260454,4	K562	blood:
27	chr4:10171115..10173658-chr4:10254307..10257090,2	K562	blood:
28	chr4:10242448..10244811-chr4:10340269..10342798,2	K562	blood:
29	chr4:10181799..10184639-chr4:10262185..10264664,2	K562	blood:
30	chr4:10117842..10119536-chr4:10257217..10259311,2	K562	blood:
31	chr4:10254361..10256671-chr4:10262474..10264248,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR1-11	chr4:10269519-10269855	NONHSAT095492
2	lnc-WDR1-10	chr4:10261069-10261762	NONHSAT095491
3	lnc-WDR1-9	chr4:10256550-10258245	NONHSAT095490

Variant related genes	Relation type
ENSG00000271544	TF binding region
ENSG00000250573	TF binding region
ENSG00000250040	TF binding region
ENSG00000250074	TF binding region
ENSG00000250040	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000250573	chromatin interactions
ENSG00000271544	chromatin interactions
ENSG00000223086	chromatin interactions

Extended variants
information (count: 2218 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2218 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4697980	chr4:10240178-10240179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533149214	chr4:10240206-10240207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568328395	chr4:10240270-10240271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551290353	chr4:10240280-10240281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561323654	chr4:10240292-10240293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141291451	chr4:10240308-10240309	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs187897126	chr4:10240331-10240332	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs564587691	chr4:10240336-10240337	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs527598645	chr4:10240344-10240345	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs546952006	chr4:10240360-10240361	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs78384072	chr4:10240362-10240363	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs192409883	chr4:10240393-10240394	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs183147385	chr4:10240436-10240437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569741285	chr4:10240448-10240449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537197659	chr4:10240449-10240450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550319931	chr4:10240469-10240470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114179116	chr4:10240471-10240472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548544302	chr4:10240479-10240480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138177338	chr4:10240483-10240484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187430747	chr4:10240519-10240520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142259007	chr4:10240537-10240538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143200789	chr4:10240572-10240573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555201462	chr4:10240575-10240576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80234850	chr4:10240589-10240590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554968069	chr4:10240594-10240595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75930771	chr4:10240597-10240598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566902526	chr4:10240599-10240600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192822161	chr4:10240610-10240611	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs11734783	chr4:10240663-10240664	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs148192845	chr4:10240670-10240671	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs184895781	chr4:10240702-10240703	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs17391238	chr4:10240709-10240710	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs548191646	chr4:10240715-10240716	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563571518	chr4:10240716-10240717	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530742470	chr4:10240718-10240719	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557513258	chr4:10240723-10240724	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552386761	chr4:10240732-10240733	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571800066	chr4:10240745-10240746	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs368957014	chr4:10240776-10240777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372153381	chr4:10240802-10240803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572828010	chr4:10240803-10240804	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs74534386	chr4:10240806-10240807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs536600305	chr4:10240830-10240831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs554981911	chr4:10240831-10240832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569978613	chr4:10240837-10240838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150735077	chr4:10240842-10240843	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558703488	chr4:10240873-10240874	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576575564	chr4:10240886-10240887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539974489	chr4:10240889-10240890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10213296	chr4:10240935-10240936	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10238000-10257000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:10238600-10241800	Enhancers	K562	blood
3	chr4:10239800-10244200	Enhancers	HSMMtube	muscle
4	chr4:10240600-10243600	Enhancers	Fetal Heart	heart
5	chr4:10241000-10241400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:10241200-10243000	Enhancers	Fetal Stomach	stomach
7	chr4:10241400-10242000	Enhancers	Brain Hippocampus Middle	brain
8	chr4:10241800-10242200	Flanking Active TSS	K562	blood
9	chr4:10241800-10242800	Enhancers	Fetal Muscle Leg	muscle
10	chr4:10242000-10242600	Enhancers	Left Ventricle	heart
11	chr4:10242200-10246200	Enhancers	K562	blood
12	chr4:10242400-10242800	Enhancers	Fetal Lung	lung
13	chr4:10243600-10246200	Weak transcription	Fetal Heart	heart
14	chr4:10244000-10255400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:10246200-10246600	Weak transcription	K562	blood
16	chr4:10246400-10246600	Enhancers	Fetal Heart	heart
17	chr4:10246600-10248200	Enhancers	K562	blood
18	chr4:10246800-10248200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr4:10247000-10247200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr4:10247200-10247400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr4:10247400-10247800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr4:10247800-10248000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr4:10248200-10256800	Weak transcription	K562	blood
24	chr4:10254800-10257200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:10255000-10255200	Enhancers	Fetal Thymus	thymus
26	chr4:10255000-10256400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:10255000-10256600	Enhancers	NHEK	skin
28	chr4:10255200-10256400	Enhancers	HMEC	breast
29	chr4:10255400-10256000	Weak transcription	Fetal Thymus	thymus
30	chr4:10255400-10256400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:10256000-10256200	Enhancers	Fetal Thymus	thymus
32	chr4:10256200-10261800	Weak transcription	Fetal Thymus	thymus
33	chr4:10256400-10261600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:10256400-10261800	Weak transcription	HMEC	breast
35	chr4:10256600-10261200	Weak transcription	NHEK	skin
36	chr4:10256800-10257000	Enhancers	K562	blood
37	chr4:10257000-10257400	Weak transcription	K562	blood
38	chr4:10257000-10257600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:10257200-10261200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:10257400-10258800	Enhancers	K562	blood
41	chr4:10257600-10262400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:10258800-10261200	Weak transcription	K562	blood
43	chr4:10259800-10260600	Enhancers	Fetal Heart	heart
44	chr4:10261200-10262000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:10261200-10262200	Enhancers	NHEK	skin
46	chr4:10261200-10263000	Enhancers	K562	blood
47	chr4:10261600-10261800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:10261600-10262000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:10261800-10262000	Enhancers	Fetal Thymus	thymus
50	chr4:10261800-10263000	Enhancers	HMEC	breast

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