Variant report

Variant	nsv1028018
Chromosome Location	chr7:25351950-25371700
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	BRCA1	chr7:25371396-25371400	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr7:25354613-25354947	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:25364446-25364739	A549	lung:	n/a	chr7:25364604-25364615
4	CEBPB	chr7:25354637-25354944	IMR90	lung:	n/a	n/a
5	CEBPB	chr7:25354698-25354925	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr7:25354592-25354919	K562	blood:	n/a	n/a
7	CEBPB	chr7:25364514-25364731	HepG2	liver:	n/a	chr7:25364604-25364615
8	CTCF	chr7:25357760-25357910	AG04449	skin:	n/a	chr7:25357880-25357896
9	CTCF	chr7:25353780-25353930	GM12874	blood:	n/a	chr7:25353895-25353913
10	CTCF	chr7:25353860-25354010	MCF-7	breast:	n/a	chr7:25353895-25353913
11	CTCF	chr7:25357780-25358070	GM12872	blood:	n/a	chr7:25357880-25357896
12	CTCF	chr7:25357780-25357930	AG04449	skin:	n/a	chr7:25357880-25357896
13	CTCF	chr7:25353860-25354010	HRPEpiC	eye:	n/a	chr7:25353895-25353913
14	CTCF	chr7:25353860-25354010	HEK293	kidney:	n/a	chr7:25353895-25353913
15	CTCF	chr7:25357740-25357890	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr7:25357780-25357930	SAEC	small airway:	n/a	chr7:25357880-25357896
17	CTCF	chr7:25357760-25357910	AG04450	lung:	n/a	chr7:25357880-25357896
18	CTCF	chr7:25357800-25357950	HEK293	kidney:	n/a	chr7:25357880-25357896
19	CTCF	chr7:25357780-25357930	GM12873	blood:	n/a	chr7:25357880-25357896
20	CTCF	chr7:25357800-25357950	GM12865	blood:	n/a	chr7:25357880-25357896
21	CTCF	chr7:25353833-25353968	LNCaP	prostate:	n/a	chr7:25353895-25353913
22	CTCF	chr7:25353780-25353930	NB4	blood:	n/a	chr7:25353895-25353913
23	CTCF	chr7:25357842-25357903	GM12878	blood:	n/a	chr7:25357880-25357896
24	CTCF	chr7:25353760-25353910	GM12875	blood:	n/a	n/a
25	CTCF	chr7:25352000-25352150	Caco-2	colon:	n/a	n/a
26	CTCF	chr7:25353825-25353986	MCF-7	breast:	n/a	chr7:25353895-25353913
27	CTCF	chr7:25357803-25357960	MCF-7	breast:	n/a	chr7:25357880-25357896
28	CTCF	chr7:25357780-25357930	BE2_C	brain:	n/a	chr7:25357880-25357896
29	CTCF	chr7:25357804-25357943	Medullo	brain:	n/a	chr7:25357880-25357896
30	CTCF	chr7:25357860-25358010	GM12871	blood:	n/a	chr7:25357880-25357896
31	CTCF	chr7:25357773-25357959	Spleen_OC	spleen:	n/a	chr7:25357880-25357896
32	CTCF	chr7:25357841-25357938	Hela-S3	cervix:	n/a	chr7:25357880-25357896
33	CTCF	chr7:25357820-25357927	MCF-7	breast:	n/a	chr7:25357880-25357896
34	CTCF	chr7:25357820-25357970	AG10803	skin:	n/a	chr7:25357880-25357896
35	CTCF	chr7:25357840-25357990	GM12873	blood:	n/a	chr7:25357880-25357896
36	CTCF	chr7:25357767-25358006	K562	blood:	n/a	chr7:25357880-25357896
37	CTCF	chr7:25353832-25353962	MCF-7	breast:	n/a	chr7:25353895-25353913
38	CTCF	chr7:25357820-25357970	HRPEpiC	eye:	n/a	chr7:25357880-25357896
39	CTCF	chr7:25357863-25357930	LNCaP	prostate:	n/a	chr7:25357880-25357896
40	CTCF	chr7:25357799-25357940	K562	blood:	n/a	chr7:25357880-25357896
41	CTCF	chr7:25356155-25356182	ProgFib	skin:	n/a	n/a
42	CTCF	chr7:25357760-25357910	AG09319	gingival:	n/a	chr7:25357880-25357896
43	CTCF	chr7:25357850-25357917	HepG2	liver:	n/a	chr7:25357880-25357896
44	CTCF	chr7:25353900-25354050	GM12868	blood:	n/a	chr7:25354016-25354025
45	CTCF	chr7:25357820-25357970	GM06990	blood:	n/a	chr7:25357880-25357896
46	CTCF	chr7:25353880-25354030	NHEK	skin:	n/a	chr7:25353895-25353913 chr7:25354016-25354025
47	CTCF	chr7:25353829-25353989	MCF-7	breast:	n/a	chr7:25353895-25353913
48	CTCF	chr7:25357780-25357930	MCF-7	breast:	n/a	chr7:25357880-25357896
49	CTCF	chr7:25353860-25354010	GM06990	blood:	n/a	chr7:25353895-25353913
50	CTCF	chr7:25353840-25353990	GM12874	blood:	n/a	chr7:25353895-25353913

No.	Distal block	Cell Line	Cell type
1	chr7:25348969..25350577-chr7:25356311..25358180,2	MCF-7	breast:
2	chr7:25351069..25353821-chr7:25357786..25360548,2	K562	blood:
3	chr7:25364997..25367518-chr7:25368459..25372666,3	K562	blood:
4	chr7:25300355..25300946-chr7:25353811..25354586,2	MCF-7	breast:
5	chr7:25299400..25299900-chr7:25353345..25353911,2	MCF-7	breast:
6	chr7:25351069..25353821-chr7:25357786..25360548,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPVF-1	chr7:25364914-25365025	XLOC_006379
2	lnc-NPVF-1	chr7:25360921-25361135	XLOC_006379
3	lnc-NPVF-1	chr7:25366400-25366434	XLOC_006379

Variant related genes	Relation type
ENSG00000233824	TF binding region
ENSG00000233824	chromatin interactions
TOMM70A	miRNA target sites
TOP1	miRNA target sites
TOMM34	miRNA target sites

Extended variants
information (count: 922 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:922 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181792164	chr7:25351976-25351977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185142314	chr7:25351981-25351982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563358980	chr7:25352051-25352052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563008477	chr7:25352073-25352074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34839970	chr7:25352076-25352077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189562504	chr7:25352083-25352084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143268850	chr7:25352115-25352116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78744715	chr7:25352120-25352121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56213133	chr7:25352126-25352127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547397535	chr7:25352133-25352134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34627401	chr7:25352143-25352144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566811991	chr7:25352197-25352198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561302386	chr7:25352212-25352213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530350554	chr7:25352269-25352270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550480792	chr7:25352281-25352282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183293042	chr7:25352288-25352289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139658138	chr7:25352297-25352298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144522001	chr7:25352338-25352339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565781305	chr7:25352370-25352371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534663192	chr7:25352377-25352378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369755939	chr7:25352383-25352384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554281807	chr7:25352450-25352451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574345645	chr7:25352460-25352461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536620367	chr7:25352463-25352464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557256349	chr7:25352477-25352478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373176695	chr7:25352502-25352503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529626893	chr7:25352525-25352526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186533821	chr7:25352539-25352540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191394282	chr7:25352576-25352577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111603891	chr7:25352593-25352594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141085533	chr7:25352616-25352617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17151365	chr7:25352617-25352618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561202027	chr7:25352620-25352621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80287421	chr7:25352668-25352669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149780506	chr7:25352669-25352670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569552608	chr7:25352709-25352710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs59223799	chr7:25352724-25352725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs114536128	chr7:25352732-25352733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542657739	chr7:25352741-25352742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552815653	chr7:25352759-25352760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs721317	chr7:25352769-25352770	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs114950813	chr7:25352804-25352805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs721316	chr7:25352809-25352810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs568048337	chr7:25352855-25352856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567371815	chr7:25352935-25352936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs80247885	chr7:25352936-25352937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537090514	chr7:25352949-25352950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530309980	chr7:25352964-25352965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370227782	chr7:25352965-25352966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556636910	chr7:25352971-25352972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Melanoma	18172304	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
Endometrioid adenocarcinoma	16974079	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25339600-25355000	Weak transcription	Fetal Brain Male	brain
2	chr7:25343600-25353800	Weak transcription	Ovary	ovary
3	chr7:25344600-25357200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:25347400-25352600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:25349000-25354600	Weak transcription	Fetal Lung	lung
6	chr7:25349200-25352600	Weak transcription	Fetal Intestine Large	intestine
7	chr7:25349200-25354000	Weak transcription	Fetal Kidney	kidney
8	chr7:25349400-25352400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:25349400-25353000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:25349400-25353600	Weak transcription	Stomach Mucosa	stomach
11	chr7:25349400-25353800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:25350000-25352600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:25350000-25352600	Weak transcription	Pancreas	Pancrea
14	chr7:25350200-25352600	Weak transcription	Fetal Intestine Small	intestine
15	chr7:25350400-25354000	Weak transcription	Brain Anterior Caudate	brain
16	chr7:25350600-25354600	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:25350800-25352600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:25350800-25353200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:25351000-25353600	Weak transcription	Small Intestine	intestine
20	chr7:25351000-25358400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:25351200-25353400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:25351400-25357200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:25351600-25358200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:25352400-25352800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:25352600-25352800	Enhancers	Brain Cingulate Gyrus	brain
26	chr7:25352600-25352800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr7:25352600-25354600	Enhancers	Pancreas	Pancrea
28	chr7:25352600-25355600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr7:25352600-25356200	Enhancers	Fetal Intestine Large	intestine
30	chr7:25352600-25357200	Enhancers	Fetal Intestine Small	intestine
31	chr7:25352800-25354000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:25353000-25355600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr7:25353200-25354000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:25353200-25354800	Enhancers	Duodenum Mucosa	Duodenum
35	chr7:25353400-25354000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr7:25353600-25354000	Enhancers	Small Intestine	intestine
37	chr7:25353600-25354800	Enhancers	Gastric	stomach
38	chr7:25353600-25355200	Enhancers	Liver	Liver
39	chr7:25353600-25355600	Enhancers	Stomach Mucosa	stomach
40	chr7:25353800-25354200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr7:25353800-25354400	Enhancers	HUVEC	blood vessel
42	chr7:25353800-25354600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:25353800-25355200	Enhancers	Ovary	ovary
44	chr7:25353800-25358400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr7:25354000-25354400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr7:25354000-25354400	Enhancers	Brain Anterior Caudate	brain
47	chr7:25354000-25355000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr7:25354000-25355000	Weak transcription	Small Intestine	intestine
49	chr7:25354000-25355600	Enhancers	Fetal Kidney	kidney
50	chr7:25354000-25360000	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links