Variant report

Variant	nsv464410
Chromosome Location	chr7:25354077-25371700
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	chr7:25364514-25364731	HepG2	liver:	n/a	chr7:25364604-25364615
4	CEBPB	chr7:25364446-25364739	A549	lung:	n/a	chr7:25364604-25364615
5	CEBPB	chr7:25354698-25354925	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr7:25354637-25354944	IMR90	lung:	n/a	n/a
7	CEBPB	chr7:25354592-25354919	K562	blood:	n/a	n/a
8	CTCF	chr7:25357820-25357970	HRPEpiC	eye:	n/a	chr7:25357880-25357896
9	CTCF	chr7:25357760-25357910	AG04450	lung:	n/a	chr7:25357880-25357896
10	CTCF	chr7:25357760-25357910	AG04449	skin:	n/a	chr7:25357880-25357896
11	CTCF	chr7:25357860-25358010	BE2_C	brain:	n/a	chr7:25357880-25357896
12	CTCF	chr7:25357780-25357930	AG04449	skin:	n/a	chr7:25357880-25357896
13	CTCF	chr7:25357820-25357927	MCF-7	breast:	n/a	chr7:25357880-25357896
14	CTCF	chr7:25357860-25358010	SK-N-SH_RA	brain:	n/a	chr7:25357880-25357896
15	CTCF	chr7:25357720-25357870	HCM	heart:	n/a	n/a
16	CTCF	chr7:25357820-25357970	AG10803	skin:	n/a	chr7:25357880-25357896
17	CTCF	chr7:25357740-25357890	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr7:25357780-25358070	GM12872	blood:	n/a	chr7:25357880-25357896
19	CTCF	chr7:25357871-25357952	LNCaP	prostate:	n/a	chr7:25357880-25357896
20	CTCF	chr7:25357860-25358010	GM12871	blood:	n/a	chr7:25357880-25357896
21	CTCF	chr7:25357780-25357930	BE2_C	brain:	n/a	chr7:25357880-25357896
22	CTCF	chr7:25357780-25357930	HRE	kidney:	n/a	chr7:25357880-25357896
23	CTCF	chr7:25357842-25357903	GM12878	blood:	n/a	chr7:25357880-25357896
24	CTCF	chr7:25357850-25357917	HepG2	liver:	n/a	chr7:25357880-25357896
25	CTCF	chr7:25357840-25357990	HEK293	kidney:	n/a	chr7:25357880-25357896
26	CTCF	chr7:25357800-25357950	HEK293	kidney:	n/a	chr7:25357880-25357896
27	CTCF	chr7:25357797-25357945	Pancreas_OC	pancreas:	n/a	chr7:25357880-25357896
28	CTCF	chr7:25357799-25357940	K562	blood:	n/a	chr7:25357880-25357896
29	CTCF	chr7:25357720-25357870	A549	lung:	n/a	n/a
30	CTCF	chr7:25357804-25357943	Medullo	brain:	n/a	chr7:25357880-25357896
31	CTCF	chr7:25357760-25357910	AG09319	gingival:	n/a	chr7:25357880-25357896
32	CTCF	chr7:25357840-25357990	GM12873	blood:	n/a	chr7:25357880-25357896
33	CTCF	chr7:25357740-25357890	RPTEC	kidney:	n/a	n/a
34	CTCF	chr7:25354040-25354190	NB4	blood:	n/a	n/a
35	CTCF	chr7:25357840-25357990	HMF	breast:	n/a	chr7:25357880-25357896
36	CTCF	chr7:25357841-25357938	Hela-S3	cervix:	n/a	chr7:25357880-25357896
37	CTCF	chr7:25357780-25357930	GM12873	blood:	n/a	chr7:25357880-25357896
38	CTCF	chr7:25357780-25357930	SAEC	small airway:	n/a	chr7:25357880-25357896
39	CTCF	chr7:25356155-25356182	ProgFib	skin:	n/a	n/a
40	CTCF	chr7:25356184-25356204	ProgFib	skin:	n/a	n/a
41	CTCF	chr7:25357767-25358006	K562	blood:	n/a	chr7:25357880-25357896
42	CTCF	chr7:25357773-25357959	Spleen_OC	spleen:	n/a	chr7:25357880-25357896
43	CTCF	chr7:25357820-25357970	GM06990	blood:	n/a	chr7:25357880-25357896
44	CTCF	chr7:25357730-25358058	MCF-7	breast:	n/a	chr7:25357880-25357896
45	CTCF	chr7:25357880-25358030	GM12871	blood:	n/a	chr7:25357880-25357896
46	CTCF	chr7:25357780-25357930	MCF-7	breast:	n/a	chr7:25357880-25357896
47	CTCF	chr7:25357820-25357970	GM12873	blood:	n/a	chr7:25357880-25357896
48	CTCF	chr7:25357800-25357950	AG04450	lung:	n/a	chr7:25357880-25357896
49	CTCF	chr7:25357800-25357950	HRPEpiC	eye:	n/a	chr7:25357880-25357896
50	CTCF	chr7:25357780-25357930	HCPEpiC	choroid plexus:	n/a	chr7:25357880-25357896

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPVF-1	chr7:25366400-25366434	XLOC_006379
2	lnc-NPVF-1	chr7:25364914-25365025	XLOC_006379
3	lnc-NPVF-1	chr7:25360921-25361135	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: 824 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:824 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6966737	chr7:25354077-25354078	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551830667	chr7:25354144-25354145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549178334	chr7:25354154-25354155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11760705	chr7:25354220-25354221	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs563260101	chr7:25354230-25354231	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146977899	chr7:25354235-25354236	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs553004907	chr7:25354247-25354248	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs371343418	chr7:25354259-25354260	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs62451649	chr7:25354265-25354266	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs538989490	chr7:25354292-25354293	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559021807	chr7:25354303-25354304	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs184455842	chr7:25354330-25354331	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368916102	chr7:25354369-25354370	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs539889217	chr7:25354416-25354417	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs553362729	chr7:25354430-25354431	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs368766130	chr7:25354438-25354439	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs116740828	chr7:25354457-25354458	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs562383053	chr7:25354459-25354460	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs189751437	chr7:25354462-25354463	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs192881360	chr7:25354470-25354471	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs532814531	chr7:25354531-25354532	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs185256525	chr7:25354532-25354533	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs372171570	chr7:25354570-25354571	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs559862710	chr7:25354600-25354601	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs575873902	chr7:25354604-25354605	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs544527230	chr7:25354621-25354622	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs552279020	chr7:25354694-25354695	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566845013	chr7:25354722-25354723	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs148069778	chr7:25354748-25354749	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs188806487	chr7:25354766-25354767	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs375271408	chr7:25354827-25354828	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs561475325	chr7:25354828-25354829	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs569119463	chr7:25354834-25354835	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs369574708	chr7:25354868-25354869	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs537687237	chr7:25354879-25354880	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs551599428	chr7:25354884-25354885	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs181906282	chr7:25354895-25354896	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs539907596	chr7:25354961-25354962	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs575038551	chr7:25355032-25355033	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs186079471	chr7:25355070-25355071	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs535824791	chr7:25355078-25355079	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs555825397	chr7:25355113-25355114	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs78786175	chr7:25355138-25355139	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs564014243	chr7:25355146-25355147	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs528224394	chr7:25355151-25355152	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs58871581	chr7:25355159-25355160	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs544402910	chr7:25355173-25355174	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557888045	chr7:25355198-25355199	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs146637883	chr7:25355203-25355204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577336631	chr7:25355205-25355206	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:111 , 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	chr7:25344600-25357200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:25349000-25354600	Weak transcription	Fetal Lung	lung
4	chr7:25350600-25354600	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:25351000-25358400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:25351400-25357200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:25351600-25358200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:25352600-25354600	Enhancers	Pancreas	Pancrea
9	chr7:25352600-25355600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:25352600-25356200	Enhancers	Fetal Intestine Large	intestine
11	chr7:25352600-25357200	Enhancers	Fetal Intestine Small	intestine
12	chr7:25353000-25355600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:25353200-25354800	Enhancers	Duodenum Mucosa	Duodenum
14	chr7:25353600-25354800	Enhancers	Gastric	stomach
15	chr7:25353600-25355200	Enhancers	Liver	Liver
16	chr7:25353600-25355600	Enhancers	Stomach Mucosa	stomach
17	chr7:25353800-25354200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr7:25353800-25354400	Enhancers	HUVEC	blood vessel
19	chr7:25353800-25354600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:25353800-25355200	Enhancers	Ovary	ovary
21	chr7:25353800-25358400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr7:25354000-25354400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:25354000-25354400	Enhancers	Brain Anterior Caudate	brain
24	chr7:25354000-25355000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:25354000-25355000	Weak transcription	Small Intestine	intestine
26	chr7:25354000-25355600	Enhancers	Fetal Kidney	kidney
27	chr7:25354000-25360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:25354200-25355000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr7:25354400-25357800	Weak transcription	Brain Anterior Caudate	brain
30	chr7:25354600-25355000	Enhancers	Colon Smooth Muscle	Colon
31	chr7:25354600-25356000	Weak transcription	Pancreas	Pancrea
32	chr7:25354600-25356400	Enhancers	Fetal Lung	lung
33	chr7:25354800-25355000	Active TSS	Duodenum Mucosa	Duodenum
34	chr7:25354800-25355200	Weak transcription	Gastric	stomach
35	chr7:25355000-25355200	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr7:25355000-25355400	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr7:25355000-25355600	Enhancers	Small Intestine	intestine
38	chr7:25355000-25356400	Enhancers	Fetal Brain Male	brain
39	chr7:25355000-25360000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:25355200-25355400	Enhancers	Gastric	stomach
41	chr7:25355200-25356200	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:25355200-25358200	Weak transcription	Ovary	ovary
43	chr7:25355200-25358600	Weak transcription	Liver	Liver
44	chr7:25355400-25355800	Weak transcription	Gastric	stomach
45	chr7:25355400-25361000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr7:25355800-25356200	Enhancers	Gastric	stomach
47	chr7:25356000-25357600	Enhancers	Pancreas	Pancrea
48	chr7:25356200-25360000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:25356200-25360800	Weak transcription	Fetal Intestine Large	intestine
50	chr7:25356400-25361000	Weak transcription	Fetal Lung	lung

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