Variant report

Variant	nsv1011718
Chromosome Location	chr4:10193427-10209251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:211)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:211 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:10202441-10202778	K562	blood:	n/a	n/a
2	ARID3A	chr4:10206912-10207070	K562	blood:	n/a	n/a
3	ARID3A	chr4:10206944-10207053	HepG2	liver:	n/a	n/a
4	ATF1	chr4:10199601-10200004	K562	blood:	n/a	n/a
5	BACH1	chr4:10203548-10203807	K562	blood:	n/a	n/a
6	BCL3	chr4:10206907-10207282	GM12878	blood:	n/a	n/a
7	BHLHE40	chr4:10193880-10194273	K562	blood:	n/a	n/a
8	BHLHE40	chr4:10207080-10207159	K562	blood:	n/a	n/a
9	BHLHE40	chr4:10205400-10206307	K562	blood:	n/a	n/a
10	BHLHE40	chr4:10202450-10202808	K562	blood:	n/a	n/a
11	BHLHE40	chr4:10199645-10199963	K562	blood:	n/a	n/a
12	CBX3	chr4:10199584-10200081	K562	blood:	n/a	n/a
13	CBX3	chr4:10205085-10205934	K562	blood:	n/a	n/a
14	CBX3	chr4:10202326-10202914	K562	blood:	n/a	n/a
15	CCNT2	chr4:10205478-10205881	K562	blood:	n/a	n/a
16	CEBPB	chr4:10204944-10205268	HepG2	liver:	n/a	chr4:10205110-10205121
17	CEBPB	chr4:10195806-10195900	HepG2	liver:	n/a	n/a
18	CEBPB	chr4:10204959-10205937	K562	blood:	n/a	chr4:10205836-10205844 chr4:10205110-10205121
19	CEBPB	chr4:10207049-10207196	HepG2	liver:	n/a	n/a
20	CEBPB	chr4:10195735-10195985	A549	lung:	n/a	n/a
21	CEBPB	chr4:10202340-10202672	K562	blood:	n/a	n/a
22	CEBPB	chr4:10205485-10205827	K562	blood:	n/a	n/a
23	CHD2	chr4:10205617-10205911	K562	blood:	n/a	n/a
24	CTCF	chr4:10194057-10194318	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr4:10193321-10193622	K562	blood:	n/a	n/a
26	CTCF	chr4:10194120-10194270	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr4:10194142-10194222	GM12878	blood:	n/a	n/a
28	CTCF	chr4:10194140-10194290	AG09309	skin:	n/a	n/a
29	CTCF	chr4:10194142-10194209	GM19239	blood:	n/a	n/a
30	CTCF	chr4:10194080-10194230	HMEC	breast:	n/a	n/a
31	CTCF	chr4:10194027-10194325	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr4:10193420-10193570	K562	blood:	n/a	n/a
33	CTCF	chr4:10194058-10194320	NHEK	skin:	n/a	n/a
34	CTCF	chr4:10193400-10193550	HMEC	breast:	n/a	n/a
35	CTCF	chr4:10194120-10194270	NHEK	skin:	n/a	n/a
36	CTCF	chr4:10194002-10194363	K562	blood:	n/a	n/a
37	CTCF	chr4:10194102-10194249	K562	blood:	n/a	n/a
38	CTCF	chr4:10194112-10194256	Fibrobl	skin:	n/a	n/a
39	CTCF	chr4:10194100-10194250	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr4:10194120-10194270	SAEC	small airway:	n/a	n/a
41	CTCF	chr4:10194160-10194310	RPTEC	kidney:	n/a	n/a
42	CTCF	chr4:10194120-10194270	HEEpiC	esophagus:	n/a	n/a
43	CTCF	chr4:10194140-10194290	SAEC	small airway:	n/a	n/a
44	CTCF	chr4:10193420-10193570	NHEK	skin:	n/a	n/a
45	CTCF	chr4:10194140-10194290	AG10803	skin:	n/a	n/a
46	CTCF	chr4:10194100-10194250	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr4:10197776-10197817	LNCaP	prostate:	n/a	n/a
48	CTCF	chr4:10194113-10194154	LNCaP	prostate:	n/a	n/a
49	CTCF	chr4:10194138-10194195	ProgFib	skin:	n/a	n/a
50	CTCF	chr4:10194060-10194210	NHEK	skin:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10118162..10120785-chr4:10200742..10203933,4	K562	blood:
2	chr4:10194015..10194637-chr4:10405680..10406337,2	MCF-7	breast:
3	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
4	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
5	chr4:10199615..10202739-chr4:10203951..10206560,3	K562	blood:
6	chr4:10207125..10208799-chr4:10284967..10286577,2	K562	blood:
7	chr4:10117656..10120785-chr4:10200069..10203011,5	K562	blood:
8	chr4:10117378..10119328-chr4:10192047..10193702,2	K562	blood:
9	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
10	chr4:10118560..10120526-chr4:10203986..10206288,3	K562	blood:
11	chr4:10202106..10207051-chr4:10207371..10210794,7	K562	blood:
12	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
13	chr4:10193717..10194647-chr4:10527846..10528670,2	MCF-7	breast:
14	chr4:10116403..10118365-chr4:10196419..10198714,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR1-7	chr4:10201447-10202296	NONHSAT095488

No data

Variant related genes	Relation type
ENSG00000248777	TF binding region
ENSG00000071127	chromatin interactions
ENSG00000248777	chromatin interactions
ENSG00000223086	chromatin interactions

Extended variants
information (count: 1185 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1185 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10489080	chr4:10193427-10193428	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149470139	chr4:10193478-10193479	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs534470529	chr4:10193485-10193486	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569757555	chr4:10193494-10193495	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs143946319	chr4:10193515-10193516	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563897606	chr4:10193525-10193526	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571204212	chr4:10193530-10193531	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs576459371	chr4:10193571-10193572	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs570686727	chr4:10193579-10193580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs148640460	chr4:10193585-10193586	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552962241	chr4:10193587-10193588	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs2159864	chr4:10193604-10193605	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs553309160	chr4:10193624-10193625	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs184196213	chr4:10193650-10193651	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs554693077	chr4:10193656-10193657	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs189904968	chr4:10193688-10193689	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs543446462	chr4:10193701-10193702	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs571721141	chr4:10193718-10193719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370179112	chr4:10193749-10193750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565297306	chr4:10193769-10193770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577141751	chr4:10193786-10193787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192609070	chr4:10193804-10193805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559755262	chr4:10193808-10193809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530356364	chr4:10193818-10193819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144349583	chr4:10193829-10193830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184805081	chr4:10193843-10193844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530603892	chr4:10193864-10193865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189312608	chr4:10193866-10193867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146613117	chr4:10193882-10193883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111411097	chr4:10193885-10193886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180849178	chr4:10193895-10193896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112351573	chr4:10193899-10193900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79096479	chr4:10193904-10193905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114941513	chr4:10193908-10193909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143883059	chr4:10193917-10193918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535297561	chr4:10193919-10193920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186593591	chr4:10193920-10193921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568677440	chr4:10193932-10193933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371108297	chr4:10193941-10193942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151332572	chr4:10193956-10193957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577178626	chr4:10194007-10194008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541056484	chr4:10194012-10194013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189288893	chr4:10194017-10194018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531463280	chr4:10194030-10194031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181634547	chr4:10194074-10194075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542474769	chr4:10194078-10194079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113001116	chr4:10194100-10194101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186610840	chr4:10194107-10194108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531097427	chr4:10194111-10194112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374239761	chr4:10194113-10194114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Sezary syndrome	18413736	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10184000-10194200	Weak transcription	HMEC	breast
2	chr4:10188800-10194000	Weak transcription	Fetal Heart	heart
3	chr4:10192000-10201200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:10193000-10194200	Enhancers	K562	blood
5	chr4:10193800-10194200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr4:10193800-10194400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr4:10193800-10194400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:10194000-10194400	Enhancers	Fetal Heart	heart
9	chr4:10194200-10194400	Enhancers	HMEC	breast
10	chr4:10194200-10199200	Weak transcription	K562	blood
11	chr4:10199200-10199600	Enhancers	K562	blood
12	chr4:10199600-10200200	Flanking Active TSS	K562	blood
13	chr4:10200000-10200400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:10200200-10202400	Enhancers	K562	blood
15	chr4:10200400-10202400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:10201200-10202000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:10201800-10202000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:10202000-10205000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:10202000-10205400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:10202400-10202600	Flanking Active TSS	K562	blood
21	chr4:10202600-10202800	Enhancers	K562	blood
22	chr4:10202800-10203000	Flanking Active TSS	K562	blood
23	chr4:10202800-10204200	Enhancers	HSMMtube	muscle
24	chr4:10203000-10203200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr4:10203000-10203400	Enhancers	K562	blood
26	chr4:10203200-10203600	Enhancers	HSMM	muscle
27	chr4:10203400-10203600	Flanking Active TSS	K562	blood
28	chr4:10203400-10204200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:10203600-10203800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr4:10203600-10204000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:10203600-10205400	Weak transcription	HSMM	muscle
32	chr4:10203600-10205400	Enhancers	K562	blood
33	chr4:10203800-10204000	Enhancers	HMEC	breast
34	chr4:10204000-10205400	Weak transcription	HMEC	breast
35	chr4:10204000-10205600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:10204200-10204600	Weak transcription	HSMMtube	muscle
37	chr4:10204200-10205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:10204600-10207400	Enhancers	HSMMtube	muscle
39	chr4:10205000-10205600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:10205000-10207800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:10205400-10205800	Enhancers	HMEC	breast
42	chr4:10205400-10206200	Flanking Active TSS	K562	blood
43	chr4:10205400-10206600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:10205400-10206800	Enhancers	HSMM	muscle
45	chr4:10205400-10207200	Enhancers	NHDF-Ad	bronchial
46	chr4:10205600-10205800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:10205600-10205800	Enhancers	Left Ventricle	heart
48	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:10205600-10207200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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