Variant report

Variant	nsv1029560
Chromosome Location	chr7:40179906-40215882
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:127)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:127 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:40181515-40181798	GM12878	blood:	n/a	chr7:40181662-40181673
2	CBX3	chr7:40181450-40182008	HCT-116	colon:	n/a	n/a
3	CEBPB	chr7:40190699-40190866	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr7:40179918-40180115	A549	lung:	n/a	chr7:40180055-40180066
5	CEBPB	chr7:40203696-40203826	A549	lung:	n/a	chr7:40203778-40203789
6	CEBPB	chr7:40184884-40185155	IMR90	lung:	n/a	n/a
7	CEBPB	chr7:40179996-40180079	HepG2	liver:	n/a	chr7:40180055-40180066
8	CEBPB	chr7:40192668-40192891	IMR90	lung:	n/a	n/a
9	CEBPB	chr7:40203739-40203813	HepG2	liver:	n/a	chr7:40203778-40203789
10	CEBPB	chr7:40192737-40192819	A549	lung:	n/a	n/a
11	CEBPB	chr7:40192715-40192842	HepG2	liver:	n/a	n/a
12	CTCF	chr7:40189840-40189990	NHEK	skin:	n/a	n/a
13	CTCF	chr7:40187280-40187430	GM06990	blood:	n/a	n/a
14	CTCF	chr7:40187320-40187470	HCM	heart:	n/a	n/a
15	CTCF	chr7:40187160-40187310	GM06990	blood:	n/a	n/a
16	CTCF	chr7:40186660-40186810	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr7:40187218-40187369	K562	blood:	n/a	n/a
18	CTCF	chr7:40187260-40187410	GM12872	blood:	n/a	n/a
19	CTCF	chr7:40187240-40187390	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr7:40187220-40187370	BE2_C	brain:	n/a	n/a
21	CTCF	chr7:40202127-40202213	GM19238	blood:	n/a	n/a
22	CTCF	chr7:40187180-40187330	RPTEC	kidney:	n/a	n/a
23	CTCF	chr7:40189861-40190003	Fibrobl	skin:	n/a	n/a
24	CTCF	chr7:40187236-40187432	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr7:40187315-40187370	MCF-7	breast:	n/a	n/a
26	CTCF	chr7:40187260-40187410	GM12878	blood:	n/a	n/a
27	CTCF	chr7:40187282-40187373	GM13977	blood:	n/a	n/a
28	CTCF	chr7:40187280-40187430	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr7:40187269-40187374	K562	blood:	n/a	n/a
30	CTCF	chr7:40187240-40187390	GM12878	blood:	n/a	n/a
31	CTCF	chr7:40187320-40187470	HVMF	connective:	n/a	n/a
32	CTCF	chr7:40187320-40187470	A549	lung:	n/a	n/a
33	CTCF	chr7:40182105-40182153	GM13976	blood:	n/a	n/a
34	CTCF	chr7:40187200-40187350	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr7:40187280-40187430	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr7:40187220-40187370	K562	blood:	n/a	n/a
37	CTCF	chr7:40187114-40187513	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr7:40187280-40187430	GM12864	blood:	n/a	n/a
39	CTCF	chr7:40187278-40187363	Gliobla	brain:	n/a	n/a
40	CTCF	chr7:40202136-40202213	GM12891	blood:	n/a	n/a
41	CTCF	chr7:40187260-40187410	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr7:40187240-40187390	HCFaa	heart:	n/a	n/a
43	CTCF	chr7:40187301-40187399	HepG2	liver:	n/a	n/a
44	CTCF	chr7:40187276-40187327	GM19238	blood:	n/a	n/a
45	CTCF	chr7:40187318-40187368	GM19240	blood:	n/a	n/a
46	CTCF	chr7:40187240-40187470	HVMF	connective:	n/a	n/a
47	CTCF	chr7:40187260-40187410	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr7:40195537-40195569	GM10248	blood:	n/a	n/a
49	CTCF	chr7:40187280-40187430	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr7:40187304-40187359	MCF-7	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40183573..40185979-chr7:40191227..40192891,2	K562	blood:
2	chr7:40183573..40185979-chr7:40191227..40192891,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDK13-4	chr7:40192040-40192296	NONHSAT120248
2	lnc-CDK13-4	chr7:40191212-40191314	NONHSAT120248
3	lnc-CDK13-4	chr7:40192631-40193750	NONHSAT120248

No data

Variant related genes	Relation type
ENSG00000248711	TF binding region

Extended variants
information (count: 1326 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1326 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550394608	chr7:40179916-40179917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75942597	chr7:40179978-40179979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151055434	chr7:40180003-40180004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549071114	chr7:40180028-40180029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561513916	chr7:40180064-40180065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188184440	chr7:40180102-40180103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373321092	chr7:40180109-40180110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535032932	chr7:40180110-40180111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150469999	chr7:40180133-40180134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180935435	chr7:40180145-40180146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536852741	chr7:40180148-40180149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557151019	chr7:40180197-40180198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573882215	chr7:40180200-40180201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547443971	chr7:40180238-40180239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143737036	chr7:40180250-40180251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112238375	chr7:40180278-40180279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542716533	chr7:40180287-40180288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559505690	chr7:40180331-40180332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369636611	chr7:40180413-40180414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572732598	chr7:40180415-40180416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545014297	chr7:40180430-40180431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12535524	chr7:40180448-40180449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533720299	chr7:40180463-40180464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533735135	chr7:40180521-40180522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377178956	chr7:40180582-40180583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548891224	chr7:40180592-40180593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144576926	chr7:40180599-40180600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147957195	chr7:40180659-40180660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567429813	chr7:40180698-40180699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184865246	chr7:40180716-40180717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565871070	chr7:40180718-40180719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528454981	chr7:40180732-40180733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538107958	chr7:40180847-40180848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190759325	chr7:40180865-40180866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557177866	chr7:40180893-40180894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575739851	chr7:40180908-40180909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181686941	chr7:40180925-40180926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113850115	chr7:40180957-40180958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58952289	chr7:40180962-40180963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186791307	chr7:40181018-40181019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141905627	chr7:40181035-40181036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376306559	chr7:40181060-40181061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35142586	chr7:40181070-40181071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370444568	chr7:40181090-40181091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191584301	chr7:40181119-40181120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376581722	chr7:40181160-40181161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555906598	chr7:40181161-40181162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375806467	chr7:40181211-40181212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181089189	chr7:40181231-40181232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58487461	chr7:40181253-40181254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	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
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40175000-40187600	Weak transcription	Pancreas	Pancrea
2	chr7:40175200-40185800	Weak transcription	Colonic Mucosa	Colon
3	chr7:40175400-40180800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:40175400-40181000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:40175400-40186000	Weak transcription	Fetal Intestine Small	intestine
6	chr7:40175600-40184800	Weak transcription	Fetal Intestine Large	intestine
7	chr7:40175600-40186800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:40175600-40191000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:40181200-40202400	Weak transcription	HSMMtube	muscle
10	chr7:40182600-40182800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr7:40184800-40185000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr7:40184800-40186600	Enhancers	Fetal Intestine Large	intestine
13	chr7:40185000-40185800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:40185200-40186000	Enhancers	Duodenum Mucosa	Duodenum
15	chr7:40185800-40186000	Enhancers	Colonic Mucosa	Colon
16	chr7:40185800-40186000	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr7:40186000-40186400	Weak transcription	Colonic Mucosa	Colon
18	chr7:40186000-40186800	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr7:40186000-40191400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:40186400-40186800	Enhancers	Colonic Mucosa	Colon
21	chr7:40186600-40187200	Weak transcription	Fetal Intestine Large	intestine
22	chr7:40186800-40187000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:40186800-40187000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:40186800-40187200	Enhancers	Fetal Intestine Small	intestine
25	chr7:40186800-40187400	Active TSS	Osteobl	bone
26	chr7:40187000-40187400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:40187200-40187400	Enhancers	Fetal Intestine Large	intestine
28	chr7:40187200-40191200	Weak transcription	Fetal Intestine Small	intestine
29	chr7:40187400-40187600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:40187400-40191000	Weak transcription	Fetal Intestine Large	intestine
31	chr7:40188200-40188400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr7:40188200-40188800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:40188200-40189000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr7:40188400-40188600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr7:40188400-40188800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr7:40188400-40188800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:40188400-40189000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:40188600-40188800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:40188600-40188800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr7:40189600-40190200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:40189800-40190000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:40190200-40202200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:40190400-40190600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr7:40190800-40191400	Enhancers	Placenta	Placenta
45	chr7:40191000-40191400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:40191000-40192000	Enhancers	Fetal Intestine Large	intestine
47	chr7:40191200-40192200	Enhancers	Fetal Intestine Small	intestine
48	chr7:40191400-40192200	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr7:40191400-40192200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr7:40192000-40196000	Weak transcription	Fetal Intestine Large	intestine

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