Variant report

Variant	nsv526824
Chromosome Location	chr7:13894276-13912417
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	chr7:13900658-13900844	K562	blood:	n/a	n/a
2	CEBPB	chr7:13903094-13903302	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr7:13900136-13900404	K562	blood:	n/a	chr7:13900271-13900282 chr7:13900271-13900284 chr7:13900271-13900284
4	CEBPB	chr7:13903095-13903310	IMR90	lung:	n/a	n/a
5	CEBPB	chr7:13900159-13900379	HepG2	liver:	n/a	chr7:13900271-13900282 chr7:13900271-13900284 chr7:13900271-13900284
6	CEBPB	chr7:13903039-13903324	K562	blood:	n/a	n/a
7	CEBPB	chr7:13900168-13900410	H1-hESC	embryonic stem cell:	n/a	chr7:13900271-13900282 chr7:13900271-13900284 chr7:13900271-13900284
8	CEBPB	chr7:13899934-13900452	IMR90	lung:	n/a	chr7:13900271-13900282 chr7:13900271-13900284 chr7:13900271-13900284
9	CEBPB	chr7:13900625-13900913	A549	lung:	n/a	n/a
10	CEBPB	chr7:13900060-13900418	A549	lung:	n/a	chr7:13900271-13900282 chr7:13900271-13900284 chr7:13900271-13900284
11	CTCF	chr7:13903080-13903230	HCT-116	colon:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
12	CTCF	chr7:13903060-13903210	HFF-Myc	foreskin:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
13	CTCF	chr7:13903080-13903230	HRPEpiC	eye:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
14	CTCF	chr7:13902887-13903430	HCT-116	colon:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
15	CTCF	chr7:13902960-13903254	H1-hESC	embryonic stem cell:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
16	CTCF	chr7:13903100-13903250	BJ	skin:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
17	CTCF	chr7:13903160-13903310	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr7:13903000-13903150	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr7:13903120-13903270	Caco-2	colon:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
20	CTCF	chr7:13904320-13904470	HBMEC	blood vessel:	n/a	chr7:13904449-13904467
21	CTCF	chr7:13902960-13903110	HVMF	connective:	n/a	n/a
22	CTCF	chr7:13903100-13903250	HMF	breast:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
23	CTCF	chr7:13903240-13903390	BE2_C	brain:	n/a	n/a
24	CTCF	chr7:13904410-13904507	K562	blood:	n/a	chr7:13904451-13904472 chr7:13904449-13904467
25	CTCF	chr7:13902987-13903317	K562	blood:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
26	CTCF	chr7:13903080-13903230	AG10803	skin:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
27	CTCF	chr7:13903080-13903230	Caco-2	colon:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
28	CTCF	chr7:13903140-13903290	HPAF	blood vessel:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
29	CTCF	chr7:13902820-13902970	HCT-116	colon:	n/a	n/a
30	CTCF	chr7:13903240-13903390	RPTEC	kidney:	n/a	n/a
31	CTCF	chr7:13904340-13904490	HMF	breast:	n/a	chr7:13904451-13904472 chr7:13904449-13904467
32	CTCF	chr7:13903085-13903221	Gliobla	brain:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
33	CTCF	chr7:13902980-13903270	BE2_C	brain:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
34	CTCF	chr7:13903160-13903310	HMF	breast:	n/a	n/a
35	CTCF	chr7:13903040-13903190	RPTEC	kidney:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
36	CTCF	chr7:13903093-13903223	HUVEC	blood vessel:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
37	CTCF	chr7:13903080-13903230	RPTEC	kidney:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
38	CTCF	chr7:13904400-13904550	Caco-2	colon:	n/a	chr7:13904451-13904472 chr7:13904449-13904467
39	CTCF	chr7:13903080-13903217	K562	blood:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
40	CTCF	chr7:13903060-13903210	HUVEC	blood vessel:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
41	CTCF	chr7:13903080-13903230	K562	blood:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
42	CTCF	chr7:13903060-13903210	HCT-116	colon:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
43	CTCF	chr7:13903098-13903201	Hela-S3	cervix:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
44	CTCF	chr7:13902994-13903303	GM12878	blood:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
45	CUX1	chr7:13903108-13903264	K562	blood:	n/a	n/a
46	E2F4	chr7:13900206-13900443	MCF10A-Er-Src	breast:	n/a	chr7:13900337-13900346 chr7:13900338-13900345 chr7:13900338-13900345 chr7:13900337-13900349 chr7:13900338-13900345
47	E2F4	chr7:13906368-13906461	MCF10A-Er-Src	breast:	n/a	n/a
48	EP300	chr7:13910583-13910862	SK-N-SH_RA	brain:	n/a	n/a
49	FOS	chr7:13900160-13900385	MCF10A-Er-Src	breast:	n/a	chr7:13900341-13900350
50	FOS	chr7:13900203-13900403	MCF10A-Er-Src	breast:	n/a	chr7:13900341-13900350

No.	Distal block	Cell Line	Cell type
1	chr7:13887425..13891202-chr7:13891537..13895717,6	K562	blood:
2	chr7:13894294..13896373-chr7:13930641..13933578,2	K562	blood:
3	chr7:13898559..13901034-chr7:13906643..13908176,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETV1-1	chr7:13898560-13898650	XLOC_006359

Variant related genes	Relation type
ENSG00000224330	TF binding region
ENSG00000213875	TF binding region
ENSG00000224330	chromatin interactions

Extended variants
information (count: 500 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1019029	chr7:13894276-13894277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78533125	chr7:13894284-13894285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73681209	chr7:13894294-13894295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188032372	chr7:13894304-13894305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546393875	chr7:13894309-13894310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562913265	chr7:13894352-13894353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576121230	chr7:13894385-13894386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541550494	chr7:13894407-13894408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs67569955	chr7:13894414-13894415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs398003724	chr7:13894428-13894429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76897301	chr7:13894429-13894430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561711282	chr7:13894469-13894470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192357190	chr7:13894497-13894498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527284854	chr7:13894502-13894503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201304381	chr7:13894514-13894515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34475612	chr7:13894519-13894520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547374516	chr7:13894533-13894534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527809510	chr7:13894534-13894535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533046769	chr7:13894554-13894555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549979476	chr7:13894556-13894557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141039898	chr7:13894566-13894567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538378822	chr7:13894590-13894591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549765294	chr7:13894600-13894601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62452244	chr7:13894612-13894613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2190326	chr7:13894624-13894625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558316179	chr7:13894630-13894631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533941981	chr7:13894635-13894636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148219699	chr7:13894661-13894662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577488675	chr7:13894664-13894665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534803730	chr7:13894672-13894673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372580042	chr7:13894677-13894678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148928630	chr7:13894688-13894689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143659410	chr7:13894689-13894690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555084693	chr7:13894698-13894699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138357206	chr7:13894742-13894743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117745845	chr7:13894753-13894754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572134941	chr7:13894790-13894791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541047163	chr7:13894798-13894799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564045913	chr7:13894815-13894816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533294041	chr7:13894820-13894821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76486594	chr7:13894821-13894822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182612038	chr7:13894827-13894828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146601298	chr7:13894879-13894880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7801928	chr7:13894939-13894940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568231590	chr7:13894960-13894961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62452245	chr7:13894971-13894972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547415838	chr7:13894975-13894976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35200032	chr7:13894982-13894983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531505038	chr7:13895091-13895092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139225943	chr7:13895109-13895110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	21298110	CNVD
Glioblastoma multiforme	22122801	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Prostate cancer	17079440	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13890600-13900200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:13892000-13896200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:13892200-13900400	Weak transcription	NHLF	lung
4	chr7:13892400-13895200	Weak transcription	Fetal Heart	heart
5	chr7:13892600-13894600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:13895200-13895400	Enhancers	Fetal Heart	heart
7	chr7:13896200-13897000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:13897000-13898200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:13898200-13902600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:13899000-13899400	Enhancers	HSMMtube	muscle
11	chr7:13900200-13900600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:13900200-13901400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:13900400-13900600	Enhancers	NHLF	lung
14	chr7:13900800-13901400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:13901400-13902400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:13902400-13903000	Enhancers	Fetal Heart	heart
17	chr7:13902600-13902800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:13902600-13903000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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