Variant report

Variant	nsv822815
Chromosome Location	chr4:165858272-165862356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:258)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr4:165859210-165859241	GM12878	blood:	n/a	n/a
2	CHD1	chr4:165858664-165859460	GM12878	blood:	n/a	n/a
3	CHD2	chr4:165858814-165859380	GM12878	blood:	n/a	n/a
4	CTCF	chr4:165858723-165859065	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr4:165858801-165859395	GM19238	blood:	n/a	n/a
6	CTCF	chr4:165859220-165859370	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr4:165859200-165859350	HCT-116	colon:	n/a	n/a
8	CTCF	chr4:165859182-165859333	A549	lung:	n/a	n/a
9	CTCF	chr4:165859180-165859330	AG04449	skin:	n/a	n/a
10	CTCF	chr4:165858820-165858970	HPF	lung:	n/a	n/a
11	CTCF	chr4:165858859-165858935	GM13977	blood:	n/a	n/a
12	CTCF	chr4:165859220-165859370	GM12873	blood:	n/a	n/a
13	CTCF	chr4:165859203-165859322	LNCaP	prostate:	n/a	n/a
14	CTCF	chr4:165858832-165859000	GM12891	blood:	n/a	n/a
15	CTCF	chr4:165858880-165859030	Caco-2	colon:	n/a	n/a
16	CTCF	chr4:165858840-165858990	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr4:165859100-165859250	HVMF	connective:	n/a	n/a
18	CTCF	chr4:165859140-165859290	HFF	foreskin:	n/a	n/a
19	CTCF	chr4:165858830-165859013	MCF-7	breast:	n/a	n/a
20	CTCF	chr4:165859220-165859370	GM12878	blood:	n/a	n/a
21	CTCF	chr4:165858860-165859010	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr4:165858900-165859050	BE2_C	brain:	n/a	n/a
23	CTCF	chr4:165859156-165859357	MCF-7	breast:	n/a	n/a
24	CTCF	chr4:165859160-165859310	GM12869	blood:	n/a	n/a
25	CTCF	chr4:165858840-165858990	GM12873	blood:	n/a	n/a
26	CTCF	chr4:165858800-165858950	AG09319	gingival:	n/a	n/a
27	CTCF	chr4:165859200-165859350	GM12872	blood:	n/a	n/a
28	CTCF	chr4:165858858-165859004	HepG2	liver:	n/a	n/a
29	CTCF	chr4:165859180-165859330	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr4:165858740-165858890	HCM	heart:	n/a	n/a
31	CTCF	chr4:165859022-165859500	MCF-7	breast:	n/a	n/a
32	CTCF	chr4:165859147-165859350	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr4:165859122-165859376	GM19240	blood:	n/a	n/a
34	CTCF	chr4:165858840-165858990	HMEC	breast:	n/a	n/a
35	CTCF	chr4:165859180-165859330	HCFaa	heart:	n/a	n/a
36	CTCF	chr4:165859200-165859350	GM12865	blood:	n/a	n/a
37	CTCF	chr4:165859200-165859350	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr4:165859159-165859345	MCF-7	breast:	n/a	n/a
39	CTCF	chr4:165859126-165859365	GM12892	blood:	n/a	n/a
40	CTCF	chr4:165859180-165859330	HepG2	liver:	n/a	n/a
41	CTCF	chr4:165859180-165859330	HEK293	kidney:	n/a	n/a
42	CTCF	chr4:165859220-165859370	AG09309	skin:	n/a	n/a
43	CTCF	chr4:165858820-165858970	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr4:165859180-165859330	GM12871	blood:	n/a	n/a
45	CTCF	chr4:165859253-165859344	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr4:165859260-165859410	GM12864	blood:	n/a	n/a
47	CTCF	chr4:165859200-165859350	K562	blood:	n/a	n/a
48	CTCF	chr4:165858820-165858970	GM12873	blood:	n/a	n/a
49	CTCF	chr4:165859200-165859350	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr4:165858851-165858952	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:165858544-165858594	SK-N-MC	brain:	n/a
2	chr4:165858544-165858594	NHDF-neo	bronchial:	n/a
3	chr4:165858544-165858594	AG10803	skin:	n/a
4	chr4:165858544-165858594	AG09319	gingival:	n/a
5	chr4:165858544-165858594	HEEpiC	esophagus:	n/a
6	chr4:165858544-165858594	T-47D	breast:	n/a
7	chr4:165858544-165858594	RPTEC	kidney:	n/a
8	chr4:165858544-165858594	GM19239	blood:	n/a
9	chr4:165858544-165858594	PrEC	prostate:	n/a
10	chr4:165858544-165858594	H1-hESC	embryonic stem cell:	embryo
11	chr4:165858544-165858594	HCT-116	colon:	n/a
12	chr4:165858544-165858594	Jurkat	blood:	n/a
13	chr4:165858544-165858594	Caco-2	colon:	n/a
14	chr4:165858544-165858594	Hepatocyte	liver:	n/a
15	chr4:165858544-165858594	NHBE	bronchial:	n/a
16	chr4:165858544-165858594	HUVEC	blood vessel:	n/a
17	chr4:165858544-165858594	AG09309	skin:	n/a
18	chr4:165858544-165858594	GM12891	blood:	n/a
19	chr4:165858544-165858594	ovcar-3	ovarian:	n/a
20	chr4:165858544-165858594	PFSK-1	brain:	n/a
21	chr4:165858544-165858594	K562	blood:	n/a
22	chr4:165858544-165858594	LNCaP	prostate:	n/a
23	chr4:165858544-165858594	AG04450	lung:	fetal
24	chr4:165858544-165858594	HRPEpiC	eye:	n/a
25	chr4:165858544-165858594	HCF	heart:	n/a
26	chr4:165858544-165858594	HEK293	kidney:	embryo
27	chr4:165858544-165858594	GM12878	blood:	n/a
28	chr4:165858544-165858594	SKMC	muscle:	n/a
29	chr4:165858544-165858594	Hela-S3	cervix:	n/a
30	chr4:165858544-165858594	CMK	blood:	n/a
31	chr4:165858544-165858594	SAEC	small airway:	n/a
32	chr4:165858544-165858594	ProgFib	skin:	n/a
33	chr4:165858544-165858594	HCM	heart:	n/a
34	chr4:165858544-165858594	U87	brain:	n/a
35	chr4:165858544-165858594	A549	lung:	n/a
36	chr4:165858544-165858594	HepG2	liver:	n/a
37	chr4:165858544-165858594	IMR90	lung:	fetal
38	chr4:165858544-165858594	PANC-1	pancreas:	n/a
39	chr4:165858544-165858594	GM12892	blood:	n/a
40	chr4:165858544-165858594	HCPEpiC	choroid plexus:	n/a
41	chr4:165858544-165858594	HRCEpiC	kidney:	n/a
42	chr4:165858544-165858594	AG04449	skin:	fetal
43	chr4:165858544-165858594	ECC-1	luminal epithelium:	n/a
44	chr4:165858544-165858594	HPAEpiC	pulmonary alveolar:	n/a
45	chr4:165858544-165858594	HIPEpiC	eye:	n/a
46	chr4:165858544-165858594	SK-N-SH	brain:	n/a
47	chr4:165858544-165858594	NH-A	brain:	n/a
48	chr4:165858544-165858594	NB4	blood:	n/a
49	chr4:165858544-165858594	HRE	kidney:	n/a
50	chr4:165858544-165858594	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:165856166..165858715-chr4:165877906..165879898,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270960	TF binding region
NACA3P	TF binding region
ENSG00000248645	TF binding region
ENSG00000270960	CpG island
NACA3P	CpG island
ENSG00000248645	CpG island
ENSG00000250486	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554214903	chr4:165858311-165858312	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372277054	chr4:165858319-165858320	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs111538142	chr4:165858362-165858363	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371424749	chr4:165858363-165858364	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs148420824	chr4:165858371-165858372	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs59990883	chr4:165858373-165858374	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs112093584	chr4:165858432-165858433	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201728034	chr4:165858452-165858453	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs34889570	chr4:165858456-165858457	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs76492527	chr4:165858457-165858458	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs397791653	chr4:165858471-165858472	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201194973	chr4:165858473-165858474	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369528399	chr4:165858501-165858502	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565059700	chr4:165858537-165858538	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs532429546	chr4:165858556-165858557	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548324574	chr4:165858590-165858591	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs374068878	chr4:165858620-165858621	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs540929491	chr4:165858648-165858649	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs568408175	chr4:165858665-165858666	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs376883786	chr4:165858683-165858684	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200302683	chr4:165858685-165858686	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs369056154	chr4:165858697-165858698	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs73871541	chr4:165858721-165858722	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10001924	chr4:165858728-165858729	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs35744224	chr4:165858740-165858741	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs531159331	chr4:165858746-165858747	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs144421205	chr4:165858782-165858783	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs55788652	chr4:165858788-165858789	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535333313	chr4:165858795-165858796	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs79055863	chr4:165858869-165858870	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs570719379	chr4:165858884-165858885	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs79480092	chr4:165858910-165858911	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs59310432	chr4:165858962-165858963	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535811398	chr4:165858980-165858981	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs148433612	chr4:165858995-165858996	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs186689160	chr4:165859008-165859009	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs55688693	chr4:165859016-165859017	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs141667461	chr4:165859020-165859021	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs558726903	chr4:165859027-165859028	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs189535854	chr4:165859038-165859039	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs576700020	chr4:165859060-165859061	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs541339303	chr4:165859106-165859107	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs6814451	chr4:165859117-165859118	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs183331022	chr4:165859154-165859155	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs369299172	chr4:165859166-165859167	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs542225430	chr4:165859197-165859198	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs140958573	chr4:165859233-165859234	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs542475810	chr4:165859249-165859250	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs531015806	chr4:165859299-165859300	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs116755535	chr4:165859318-165859319	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165854200-165858600	Weak transcription	HSMMtube	muscle
2	chr4:165855200-165858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:165857400-165859400	Flanking Active TSS	GM12878-XiMat	blood
4	chr4:165857600-165859200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:165857600-165859200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:165857600-165859200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:165857600-165859200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:165857800-165859200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:165857800-165859200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:165858000-165859200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:165858600-165859000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:165858600-165859000	Enhancers	Adipose Nuclei	Adipose
13	chr4:165858600-165859200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr4:165858600-165859200	Enhancers	HSMMtube	muscle
15	chr4:165858600-165859400	Enhancers	Fetal Muscle Leg	muscle
16	chr4:165858800-165859200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:165858800-165859200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:165858800-165859200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:165858800-165859200	Enhancers	Brain Substantia Nigra	brain
20	chr4:165858800-165859200	Enhancers	Fetal Lung	lung
21	chr4:165858800-165859200	Enhancers	Fetal Stomach	stomach
22	chr4:165859000-165860000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:165859200-165864400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:165859200-165869200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:165859400-165859600	Active TSS	GM12878-XiMat	blood
26	chr4:165859400-165861000	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:165859600-165859800	Flanking Active TSS	GM12878-XiMat	blood
28	chr4:165859800-165860800	Weak transcription	GM12878-XiMat	blood
29	chr4:165860800-165861000	Enhancers	GM12878-XiMat	blood
30	chr4:165861200-165861400	Enhancers	Fetal Muscle Leg	muscle

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