Variant report

Variant	nsv1026205
Chromosome Location	chr7:13898055-13917706
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	chr7:13915440-13915557	K562	blood:	n/a	n/a
2	ATF1	chr7:13900658-13900844	K562	blood:	n/a	n/a
3	BHLHE40	chr7:13915327-13915479	K562	blood:	n/a	n/a
4	CEBPB	chr7:13900060-13900418	A549	lung:	n/a	chr7:13900271-13900282 chr7:13900271-13900284 chr7:13900271-13900284
5	CEBPB	chr7:13903094-13903302	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr7:13900159-13900379	HepG2	liver:	n/a	chr7:13900271-13900282 chr7:13900271-13900284 chr7:13900271-13900284
7	CEBPB	chr7:13900136-13900404	K562	blood:	n/a	chr7:13900271-13900282 chr7:13900271-13900284 chr7:13900271-13900284
8	CEBPB	chr7:13903039-13903324	K562	blood:	n/a	n/a
9	CEBPB	chr7:13903095-13903310	IMR90	lung:	n/a	n/a
10	CEBPB	chr7:13899934-13900452	IMR90	lung:	n/a	chr7:13900271-13900282 chr7:13900271-13900284 chr7:13900271-13900284
11	CEBPB	chr7:13900168-13900410	H1-hESC	embryonic stem cell:	n/a	chr7:13900271-13900282 chr7:13900271-13900284 chr7:13900271-13900284
12	CEBPB	chr7:13900625-13900913	A549	lung:	n/a	n/a
13	CTCF	chr7:13903140-13903290	HPAF	blood vessel:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
14	CTCF	chr7:13903240-13903390	RPTEC	kidney:	n/a	n/a
15	CTCF	chr7:13903160-13903310	HMF	breast:	n/a	n/a
16	CTCF	chr7:13902887-13903430	HCT-116	colon:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
17	CTCF	chr7:13903085-13903221	Gliobla	brain:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
18	CTCF	chr7:13903240-13903390	BE2_C	brain:	n/a	n/a
19	CTCF	chr7:13903060-13903210	HCT-116	colon:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
20	CTCF	chr7:13903080-13903230	HRPEpiC	eye:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
21	CTCF	chr7:13903093-13903223	HUVEC	blood vessel:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
22	CTCF	chr7:13903080-13903230	Caco-2	colon:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
23	CTCF	chr7:13903100-13903250	BJ	skin:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
24	CTCF	chr7:13903040-13903190	RPTEC	kidney:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
25	CTCF	chr7:13904410-13904507	K562	blood:	n/a	chr7:13904451-13904472 chr7:13904449-13904467
26	CTCF	chr7:13903080-13903230	HCT-116	colon:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
27	CTCF	chr7:13903060-13903210	HUVEC	blood vessel:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
28	CTCF	chr7:13903098-13903201	Hela-S3	cervix:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
29	CTCF	chr7:13902960-13903254	H1-hESC	embryonic stem cell:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
30	CTCF	chr7:13904340-13904490	HMF	breast:	n/a	chr7:13904451-13904472 chr7:13904449-13904467
31	CTCF	chr7:13902820-13902970	HCT-116	colon:	n/a	n/a
32	CTCF	chr7:13903160-13903310	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr7:13904400-13904550	Caco-2	colon:	n/a	chr7:13904451-13904472 chr7:13904449-13904467
34	CTCF	chr7:13902987-13903317	K562	blood:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
35	CTCF	chr7:13903000-13903150	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr7:13902994-13903303	GM12878	blood:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
37	CTCF	chr7:13902960-13903110	HVMF	connective:	n/a	n/a
38	CTCF	chr7:13903080-13903230	RPTEC	kidney:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
39	CTCF	chr7:13903080-13903230	AG10803	skin:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
40	CTCF	chr7:13903060-13903210	HFF-Myc	foreskin:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
41	CTCF	chr7:13904320-13904470	HBMEC	blood vessel:	n/a	chr7:13904449-13904467
42	CTCF	chr7:13902980-13903270	BE2_C	brain:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
43	CTCF	chr7:13903080-13903230	K562	blood:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
44	CTCF	chr7:13903080-13903217	K562	blood:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
45	CTCF	chr7:13903120-13903270	Caco-2	colon:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
46	CTCF	chr7:13903100-13903250	HMF	breast:	n/a	chr7:13903159-13903172 chr7:13903146-13903164 chr7:13903149-13903162
47	CUX1	chr7:13903108-13903264	K562	blood:	n/a	n/a
48	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
49	E2F4	chr7:13906368-13906461	MCF10A-Er-Src	breast:	n/a	n/a
50	EGR1	chr7:13915259-13915578	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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: 545 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569019743	chr7:13898088-13898089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75164342	chr7:13898100-13898101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181860073	chr7:13898139-13898140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574213932	chr7:13898155-13898156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146526084	chr7:13898164-13898165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546288273	chr7:13898237-13898238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553444617	chr7:13898276-13898277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573187321	chr7:13898286-13898287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186278177	chr7:13898340-13898341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565587891	chr7:13898416-13898417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116374968	chr7:13898432-13898433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560099296	chr7:13898455-13898456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529777459	chr7:13898490-13898491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539477994	chr7:13898515-13898516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78657708	chr7:13898537-13898538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532146534	chr7:13898551-13898552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551854518	chr7:13898560-13898561	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs569156548	chr7:13898562-13898563	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs569636804	chr7:13898570-13898571	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs537728378	chr7:13898574-13898575	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs149390927	chr7:13898616-13898617	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs568251614	chr7:13898622-13898623	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs536791002	chr7:13898626-13898627	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs190604878	chr7:13898646-13898647	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs34525117	chr7:13898664-13898665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183500604	chr7:13898671-13898672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143768025	chr7:13898681-13898682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148157581	chr7:13898718-13898719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558656488	chr7:13898762-13898763	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs575925949	chr7:13898780-13898781	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs544492021	chr7:13898822-13898823	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs561190439	chr7:13898828-13898829	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs574693049	chr7:13898848-13898849	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs79009972	chr7:13898854-13898855	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs79183734	chr7:13898856-13898857	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs142020363	chr7:13898958-13898959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186356762	chr7:13898973-13898974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532083660	chr7:13899016-13899017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs202112851	chr7:13899025-13899026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552180512	chr7:13899098-13899099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146161808	chr7:13899105-13899106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191306982	chr7:13899113-13899114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560790222	chr7:13899119-13899120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34423270	chr7:13899156-13899157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182632964	chr7:13899163-13899164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555728238	chr7:13899166-13899167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79800018	chr7:13899189-13899190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547587325	chr7:13899214-13899215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139079091	chr7:13899335-13899336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374888367	chr7:13899343-13899344	Weak transcription Enhancers	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13890600-13900200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:13892200-13900400	Weak transcription	NHLF	lung
3	chr7:13897000-13898200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:13898200-13902600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:13899000-13899400	Enhancers	HSMMtube	muscle
6	chr7:13900200-13900600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:13900200-13901400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:13900400-13900600	Enhancers	NHLF	lung
9	chr7:13900800-13901400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:13901400-13902400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:13902400-13903000	Enhancers	Fetal Heart	heart
12	chr7:13902600-13902800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:13902600-13903000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:13913600-13913800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:13913800-13914000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:13913800-13914000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:13913800-13914000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:13913800-13914000	Enhancers	NHLF	lung
19	chr7:13913800-13914000	Enhancers	Osteobl	bone
20	chr7:13913800-13914200	Enhancers	Dnd41	blood
21	chr7:13913800-13914800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:13914000-13914200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:13914000-13914400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr7:13914000-13914400	Flanking Active TSS	NHLF	lung
25	chr7:13914000-13914400	Flanking Active TSS	Osteobl	bone
26	chr7:13914000-13914600	Enhancers	HSMM	muscle
27	chr7:13914000-13914800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:13914000-13914800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:13914000-13915000	Enhancers	Fetal Lung	lung
30	chr7:13914000-13915200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr7:13914000-13915400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:13914000-13915400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:13914000-13915600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:13914200-13914600	Flanking Active TSS	Dnd41	blood
35	chr7:13914200-13914600	Active TSS	NHDF-Ad	bronchial
36	chr7:13914200-13914800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:13914200-13914800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr7:13914400-13914800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
39	chr7:13914400-13914800	Active TSS	Osteobl	bone
40	chr7:13914400-13915000	Enhancers	NHLF	lung
41	chr7:13914400-13915200	Enhancers	NH-A	brain
42	chr7:13914600-13915000	Enhancers	NHDF-Ad	bronchial
43	chr7:13914600-13915400	Enhancers	Dnd41	blood
44	chr7:13914600-13919000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:13914600-13919400	Weak transcription	HSMM	muscle
46	chr7:13914800-13915000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:13914800-13915000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:13914800-13915000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:13914800-13915200	Enhancers	Osteobl	bone
50	chr7:13914800-13915400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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