Variant report

Variant	nsv966316
Chromosome Location	chr4:122289350-122291731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:122291640-122291790	GM12864	blood:	n/a	n/a
2	CTCF	chr4:122291696-122291780	A549	lung:	n/a	n/a
3	CTCF	chr4:122291340-122291490	SAEC	small airway:	n/a	n/a
4	CTCF	chr4:122291408-122291472	GM19240	blood:	n/a	n/a
5	CTCF	chr4:122291620-122291770	GM12873	blood:	n/a	n/a
6	CTCF	chr4:122291711-122291832	GM19240	blood:	n/a	n/a
7	CTCF	chr4:122291600-122291750	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr4:122291580-122291730	GM12869	blood:	n/a	n/a
9	CTCF	chr4:122291540-122291690	HFF-Myc	foreskin:	n/a	n/a
10	CTCF	chr4:122291600-122291750	NHLF	lung:	n/a	n/a
11	CTCF	chr4:122291699-122291825	GM12891	blood:	n/a	n/a
12	CTCF	chr4:122291220-122291370	HPAF	blood vessel:	n/a	n/a
13	CTCF	chr4:122291687-122291839	GM12892	blood:	n/a	n/a
14	CTCF	chr4:122290900-122291050	NHDF-neo	bronchial:	n/a	n/a
15	CTCF	chr4:122291560-122291710	RPTEC	kidney:	n/a	n/a
16	CTCF	chr4:122291700-122291850	HMEC	breast:	n/a	n/a
17	CTCF	chr4:122291700-122291850	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr4:122291580-122291730	HFF	foreskin:	n/a	n/a
19	CTCF	chr4:122291394-122291460	GM12891	blood:	n/a	n/a
20	CTCF	chr4:122291580-122291730	GM12865	blood:	n/a	n/a
21	CTCF	chr4:122291592-122292410	A549	lung:	n/a	chr4:122292074-122292087 chr4:122292071-122292089 chr4:122292073-122292094
22	CTCF	chr4:122291600-122291750	GM12868	blood:	n/a	n/a
23	CTCF	chr4:122291234-122291270	GM12891	blood:	n/a	n/a
24	CTCF	chr4:122291560-122291710	WI-38	lung:	n/a	n/a
25	CTCF	chr4:122291660-122291810	GM12874	blood:	n/a	n/a
26	CTCF	chr4:122291696-122291833	GM19239	blood:	n/a	n/a
27	CTCF	chr4:122291020-122291170	GM12864	blood:	n/a	n/a
28	CTCF	chr4:122291680-122291842	GM19238	blood:	n/a	n/a
29	CTCF	chr4:122291700-122291850	GM12872	blood:	n/a	n/a
30	CTCF	chr4:122291692-122292453	SK-N-SH	brain:	n/a	chr4:122292074-122292087 chr4:122292071-122292089 chr4:122292073-122292094
31	CTCF	chr4:122291260-122291410	AG09319	gingival:	n/a	n/a
32	CTCF	chr4:122291220-122291370	GM12865	blood:	n/a	n/a
33	CTCF	chr4:122291730-122291783	Fibrobl	skin:	n/a	n/a
34	CTCF	chr4:122291726-122291793	Gliobla	brain:	n/a	n/a
35	CTCF	chr4:122291600-122291750	GM12867	blood:	n/a	n/a
36	CTCF	chr4:122291715-122291789	LNCaP	prostate:	n/a	n/a
37	CTCF	chr4:122290640-122290708	Fibrobl	skin:	n/a	n/a
38	CTCF	chr4:122291680-122291830	BJ	skin:	n/a	n/a
39	CTCF	chr4:122291710-122291816	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:122291373-122291406	Gliobla	brain:	n/a	n/a
41	POLR2A	chr4:122291409-122291418	Gliobla	brain:	n/a	n/a
42	RAD21	chr4:122291728-122292461	SK-N-SH	brain:	n/a	chr4:122292075-122292088 chr4:122292072-122292091
43	STAT3	chr4:122289554-122289705	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122291624..122292430-chr4:122342879..122343479,3	MCF-7	breast:
2	chr4:122291642..122292373-chr4:122577439..122577960,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNIP3-2	chr4:122290588-122291500	NONHSAT098140

No data

Variant related genes	Relation type
ENSG00000213480	TF binding region

Extended variants
information (count: 99 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529697713	chr4:122289371-122289372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183301313	chr4:122289447-122289448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563109563	chr4:122289484-122289485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139718763	chr4:122289502-122289503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375797934	chr4:122289504-122289505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548611918	chr4:122289595-122289596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552427497	chr4:122289616-122289617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150041227	chr4:122289695-122289696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188694477	chr4:122289715-122289716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs691626	chr4:122289863-122289864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs111355042	chr4:122289880-122289881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369394264	chr4:122289891-122289892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567762855	chr4:122289895-122289896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145323889	chr4:122289909-122289910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556811880	chr4:122289922-122289923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576694415	chr4:122289932-122289933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538990158	chr4:122289938-122289939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116792034	chr4:122289954-122289955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs964305	chr4:122289983-122289984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs139621353	chr4:122290013-122290014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541025266	chr4:122290016-122290017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560519628	chr4:122290019-122290020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574212058	chr4:122290044-122290045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190991787	chr4:122290049-122290050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114976741	chr4:122290088-122290089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563172719	chr4:122290171-122290172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142661287	chr4:122290184-122290185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552228252	chr4:122290206-122290207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559605405	chr4:122290223-122290224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10030200	chr4:122290248-122290249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545121268	chr4:122290263-122290264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547832127	chr4:122290314-122290315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567629210	chr4:122290344-122290345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369233103	chr4:122290345-122290346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28477518	chr4:122290376-122290377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs570199766	chr4:122290399-122290400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539232261	chr4:122290405-122290406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141553960	chr4:122290410-122290411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566385591	chr4:122290415-122290416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112119586	chr4:122290503-122290504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554181787	chr4:122290576-122290577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574075691	chr4:122290591-122290592	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs17372851	chr4:122290620-122290621	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs556631004	chr4:122290663-122290664	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs112495673	chr4:122290664-122290665	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs576821454	chr4:122290715-122290716	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs545979440	chr4:122290718-122290719	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs56778757	chr4:122290719-122290720	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528398699	chr4:122290726-122290727	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs542128286	chr4:122290733-122290734	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122282200-122294000	Weak transcription	HMEC	breast
2	chr4:122282200-122295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:122290600-122290800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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