Variant report

Variant	nsv464409
Chromosome Location	chr7:25352809-25371700
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	chr7:25364446-25364739	A549	lung:	n/a	chr7:25364604-25364615
3	CEBPB	chr7:25354637-25354944	IMR90	lung:	n/a	n/a
4	CEBPB	chr7:25354698-25354925	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr7:25354592-25354919	K562	blood:	n/a	n/a
6	CEBPB	chr7:25354613-25354947	HepG2	liver:	n/a	n/a
7	CEBPB	chr7:25364514-25364731	HepG2	liver:	n/a	chr7:25364604-25364615
8	CTCF	chr7:25357740-25357890	RPTEC	kidney:	n/a	n/a
9	CTCF	chr7:25353780-25353930	NB4	blood:	n/a	chr7:25353895-25353913
10	CTCF	chr7:25357800-25357950	GM12865	blood:	n/a	chr7:25357880-25357896
11	CTCF	chr7:25357760-25357910	AG04449	skin:	n/a	chr7:25357880-25357896
12	CTCF	chr7:25357860-25358010	GM12871	blood:	n/a	chr7:25357880-25357896
13	CTCF	chr7:25357780-25357930	GM12873	blood:	n/a	chr7:25357880-25357896
14	CTCF	chr7:25356184-25356204	ProgFib	skin:	n/a	n/a
15	CTCF	chr7:25357840-25357990	HEK293	kidney:	n/a	chr7:25357880-25357896
16	CTCF	chr7:25357803-25357960	MCF-7	breast:	n/a	chr7:25357880-25357896
17	CTCF	chr7:25357760-25357910	AG04450	lung:	n/a	chr7:25357880-25357896
18	CTCF	chr7:25357740-25357890	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr7:25353880-25354030	MCF-7	breast:	n/a	chr7:25353895-25353913 chr7:25354016-25354025
20	CTCF	chr7:25357820-25357970	HRPEpiC	eye:	n/a	chr7:25357880-25357896
21	CTCF	chr7:25353852-25353958	H1-hESC	embryonic stem cell:	n/a	chr7:25353895-25353913
22	CTCF	chr7:25353780-25353930	GM12874	blood:	n/a	chr7:25353895-25353913
23	CTCF	chr7:25354040-25354190	NB4	blood:	n/a	n/a
24	CTCF	chr7:25353815-25353978	MCF-7	breast:	n/a	chr7:25353895-25353913
25	CTCF	chr7:25353860-25354010	HRPEpiC	eye:	n/a	chr7:25353895-25353913
26	CTCF	chr7:25357720-25357870	HCM	heart:	n/a	n/a
27	CTCF	chr7:25357840-25357990	GM12873	blood:	n/a	chr7:25357880-25357896
28	CTCF	chr7:25357850-25357917	HepG2	liver:	n/a	chr7:25357880-25357896
29	CTCF	chr7:25357840-25357990	HMF	breast:	n/a	chr7:25357880-25357896
30	CTCF	chr7:25357780-25357930	SAEC	small airway:	n/a	chr7:25357880-25357896
31	CTCF	chr7:25357820-25357927	MCF-7	breast:	n/a	chr7:25357880-25357896
32	CTCF	chr7:25353860-25354010	GM06990	blood:	n/a	chr7:25353895-25353913
33	CTCF	chr7:25353825-25353986	MCF-7	breast:	n/a	chr7:25353895-25353913
34	CTCF	chr7:25353832-25353962	MCF-7	breast:	n/a	chr7:25353895-25353913
35	CTCF	chr7:25353833-25353968	LNCaP	prostate:	n/a	chr7:25353895-25353913
36	CTCF	chr7:25357780-25357930	BE2_C	brain:	n/a	chr7:25357880-25357896
37	CTCF	chr7:25357804-25357943	Medullo	brain:	n/a	chr7:25357880-25357896
38	CTCF	chr7:25357800-25357950	AG04450	lung:	n/a	chr7:25357880-25357896
39	CTCF	chr7:25353860-25354010	HEK293	kidney:	n/a	chr7:25353895-25353913
40	CTCF	chr7:25357780-25358070	GM12872	blood:	n/a	chr7:25357880-25357896
41	CTCF	chr7:25357820-25357970	GM06990	blood:	n/a	chr7:25357880-25357896
42	CTCF	chr7:25353800-25353950	GM12871	blood:	n/a	chr7:25353895-25353913
43	CTCF	chr7:25357780-25357930	AG04449	skin:	n/a	chr7:25357880-25357896
44	CTCF	chr7:25353900-25354050	GM12868	blood:	n/a	chr7:25354016-25354025
45	CTCF	chr7:25353840-25353990	GM12874	blood:	n/a	chr7:25353895-25353913
46	CTCF	chr7:25353829-25353989	MCF-7	breast:	n/a	chr7:25353895-25353913
47	CTCF	chr7:25357799-25357940	K562	blood:	n/a	chr7:25357880-25357896
48	CTCF	chr7:25353882-25353963	Pancreas_OC	pancreas:	n/a	chr7:25353895-25353913
49	CTCF	chr7:25357760-25357910	AG09319	gingival:	n/a	chr7:25357880-25357896
50	CTCF	chr7:25353760-25353910	GM12875	blood:	n/a	n/a

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

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

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

Extended variants
information (count: 880 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:880 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs721316	chr7:25352809-25352810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568048337	chr7:25352855-25352856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567371815	chr7:25352935-25352936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80247885	chr7:25352936-25352937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537090514	chr7:25352949-25352950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530309980	chr7:25352964-25352965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370227782	chr7:25352965-25352966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556636910	chr7:25352971-25352972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187434958	chr7:25353031-25353032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374108277	chr7:25353038-25353039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114253283	chr7:25353201-25353202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552769228	chr7:25353210-25353211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145703739	chr7:25353232-25353233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565547327	chr7:25353265-25353266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370208341	chr7:25353287-25353288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148966973	chr7:25353295-25353296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574837067	chr7:25353387-25353388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377737299	chr7:25353413-25353414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544777361	chr7:25353419-25353420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563635928	chr7:25353426-25353427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192578771	chr7:25353430-25353431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11760451	chr7:25353436-25353437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546493051	chr7:25353446-25353447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560068087	chr7:25353461-25353462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528730755	chr7:25353464-25353465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11974632	chr7:25353466-25353467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568151112	chr7:25353492-25353493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556476612	chr7:25353503-25353504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75317026	chr7:25353507-25353508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550564844	chr7:25353551-25353552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570085693	chr7:25353586-25353587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183260339	chr7:25353608-25353609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35658085	chr7:25353609-25353610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs368353764	chr7:25353614-25353615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566417128	chr7:25353629-25353630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147050047	chr7:25353646-25353647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11974691	chr7:25353671-25353672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552201674	chr7:25353674-25353675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574887456	chr7:25353701-25353702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11974720	chr7:25353729-25353730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186820636	chr7:25353730-25353731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557414288	chr7:25353741-25353742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577339157	chr7:25353742-25353743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533464694	chr7:25353751-25353752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11977830	chr7:25353764-25353765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560130074	chr7:25353773-25353774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6948208	chr7:25353798-25353799	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191234381	chr7:25353800-25353801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562107899	chr7:25353815-25353816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35520815	chr7:25353838-25353839	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:124 , 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	chr7:25349000-25354600	Weak transcription	Fetal Lung	lung
5	chr7:25349200-25354000	Weak transcription	Fetal Kidney	kidney
6	chr7:25349400-25353000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:25349400-25353600	Weak transcription	Stomach Mucosa	stomach
8	chr7:25349400-25353800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:25350400-25354000	Weak transcription	Brain Anterior Caudate	brain
10	chr7:25350600-25354600	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:25350800-25353200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:25351000-25353600	Weak transcription	Small Intestine	intestine
13	chr7:25351000-25358400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:25351200-25353400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:25351400-25357200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:25351600-25358200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:25352600-25354600	Enhancers	Pancreas	Pancrea
18	chr7:25352600-25355600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr7:25352600-25356200	Enhancers	Fetal Intestine Large	intestine
20	chr7:25352600-25357200	Enhancers	Fetal Intestine Small	intestine
21	chr7:25352800-25354000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:25353000-25355600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr7:25353200-25354000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr7:25353200-25354800	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:25353400-25354000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr7:25353600-25354000	Enhancers	Small Intestine	intestine
27	chr7:25353600-25354800	Enhancers	Gastric	stomach
28	chr7:25353600-25355200	Enhancers	Liver	Liver
29	chr7:25353600-25355600	Enhancers	Stomach Mucosa	stomach
30	chr7:25353800-25354200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr7:25353800-25354400	Enhancers	HUVEC	blood vessel
32	chr7:25353800-25354600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:25353800-25355200	Enhancers	Ovary	ovary
34	chr7:25353800-25358400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:25354000-25354400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr7:25354000-25354400	Enhancers	Brain Anterior Caudate	brain
37	chr7:25354000-25355000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr7:25354000-25355000	Weak transcription	Small Intestine	intestine
39	chr7:25354000-25355600	Enhancers	Fetal Kidney	kidney
40	chr7:25354000-25360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:25354200-25355000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr7:25354400-25357800	Weak transcription	Brain Anterior Caudate	brain
43	chr7:25354600-25355000	Enhancers	Colon Smooth Muscle	Colon
44	chr7:25354600-25356000	Weak transcription	Pancreas	Pancrea
45	chr7:25354600-25356400	Enhancers	Fetal Lung	lung
46	chr7:25354800-25355000	Active TSS	Duodenum Mucosa	Duodenum
47	chr7:25354800-25355200	Weak transcription	Gastric	stomach
48	chr7:25355000-25355200	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr7:25355000-25355400	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr7:25355000-25355600	Enhancers	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links