Variant report

Variant	nsv1022419
Chromosome Location	chr6:65708779-65760190
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	CEBPB	chr6:65755702-65756077	Hela-S3	cervix:	n/a	chr6:65755859-65755870 chr6:65755888-65755899
2	CEBPB	chr6:65757460-65757715	HepG2	liver:	n/a	chr6:65757602-65757613
3	CEBPB	chr6:65755738-65756070	IMR90	lung:	n/a	chr6:65755859-65755870 chr6:65755888-65755899
4	CEBPB	chr6:65755716-65756078	HepG2	liver:	n/a	chr6:65755859-65755870 chr6:65755888-65755899
5	CEBPB	chr6:65714814-65714999	A549	lung:	n/a	chr6:65714880-65714891
6	CEBPB	chr6:65716699-65717038	H1-hESC	embryonic stem cell:	n/a	chr6:65716874-65716885
7	CEBPB	chr6:65716700-65717039	HepG2	liver:	n/a	chr6:65716874-65716885
8	CEBPB	chr6:65714828-65715032	HepG2	liver:	n/a	chr6:65714880-65714891
9	CEBPB	chr6:65755724-65756051	K562	blood:	n/a	chr6:65755859-65755870 chr6:65755888-65755899
10	CEBPB	chr6:65755777-65756072	A549	lung:	n/a	chr6:65755859-65755870 chr6:65755888-65755899
11	CHD2	chr6:65740417-65740502	HepG2	liver:	n/a	n/a
12	CTCF	chr6:65723500-65723650	GM12872	blood:	n/a	n/a
13	CTCF	chr6:65714320-65714470	HEK293	kidney:	n/a	n/a
14	CTCF	chr6:65723572-65723673	MCF-7	breast:	n/a	n/a
15	CTCF	chr6:65723480-65723630	GM12866	blood:	n/a	n/a
16	CTCF	chr6:65723523-65723653	HepG2	liver:	n/a	n/a
17	CTCF	chr6:65723463-65723778	GM12878	blood:	n/a	n/a
18	CTCF	chr6:65714280-65714430	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr6:65723560-65723710	GM12873	blood:	n/a	n/a
20	CTCF	chr6:65723520-65723670	BE2_C	brain:	n/a	n/a
21	CTCF	chr6:65723580-65723730	K562	blood:	n/a	n/a
22	CTCF	chr6:65723460-65723610	GM12871	blood:	n/a	n/a
23	CTCF	chr6:65714320-65714470	HepG2	liver:	n/a	n/a
24	CTCF	chr6:65723520-65723670	GM12873	blood:	n/a	n/a
25	CTCF	chr6:65733640-65733676	Fibrobl	skin:	n/a	n/a
26	CTCF	chr6:65723520-65723670	GM12878	blood:	n/a	n/a
27	CTCF	chr6:65723620-65723648	ProgFib	skin:	n/a	n/a
28	CTCF	chr6:65723540-65723690	HEK293	kidney:	n/a	n/a
29	CTCF	chr6:65731488-65731566	Lung_OC	lung:	n/a	n/a
30	CTCF	chr6:65723540-65723690	HepG2	liver:	n/a	n/a
31	CTCF	chr6:65723560-65723710	GM12868	blood:	n/a	n/a
32	CTCF	chr6:65723460-65723610	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr6:65723540-65723690	NB4	blood:	n/a	n/a
34	CTCF	chr6:65723598-65723621	GM19238	blood:	n/a	n/a
35	CTCF	chr6:65723540-65723690	GM12868	blood:	n/a	n/a
36	CTCF	chr6:65723547-65723666	Gliobla	brain:	n/a	n/a
37	CTCF	chr6:65723540-65723690	GM12874	blood:	n/a	n/a
38	CTCF	chr6:65723520-65723670	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr6:65723540-65723690	GM12872	blood:	n/a	n/a
40	CTCF	chr6:65723560-65723710	GM12872	blood:	n/a	n/a
41	CTCF	chr6:65736512-65736545	GM13977	blood:	n/a	n/a
42	CTCF	chr6:65723520-65723670	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr6:65731412-65731453	GM13976	blood:	n/a	n/a
44	CTCF	chr6:65723440-65723590	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr6:65723540-65723690	GM12864	blood:	n/a	n/a
46	CTCF	chr6:65723500-65723650	HEK293	kidney:	n/a	n/a
47	CTCF	chr6:65723540-65723690	GM12865	blood:	n/a	n/a
48	CTCF	chr6:65723582-65723667	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr6:65723547-65723695	MCF-7	breast:	n/a	n/a
50	CTCF	chr6:65723565-65723648	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:62312608..62314638-chr6:65744579..65746564,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256352	TF binding region
ENSG00000257058	chromatin interactions
ENSG00000124942	chromatin interactions

Extended variants
information (count: 1020 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1020 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371747682	chr6:65708822-65708823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115150021	chr6:65708842-65708843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115849131	chr6:65708849-65708850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555905773	chr6:65708885-65708886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146950375	chr6:65708894-65708895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147138931	chr6:65708934-65708935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544882342	chr6:65708938-65708939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558627614	chr6:65708940-65708941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572397434	chr6:65708944-65708945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541027967	chr6:65709043-65709044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9354199	chr6:65709059-65709060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530191799	chr6:65709065-65709066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs137992522	chr6:65709073-65709074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149454205	chr6:65709088-65709089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532798862	chr6:65709104-65709105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552824658	chr6:65709114-65709115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566200684	chr6:65709129-65709130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558671525	chr6:65709166-65709167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528785064	chr6:65709177-65709178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539309024	chr6:65709199-65709200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35284552	chr6:65709204-65709205	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs551306263	chr6:65709220-65709221	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs567270045	chr6:65709251-65709252	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs531831943	chr6:65709263-65709264	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs535926766	chr6:65709271-65709272	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs555868943	chr6:65709300-65709301	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569465867	chr6:65709307-65709308	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs189581657	chr6:65709310-65709311	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs181585488	chr6:65709390-65709391	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs555147871	chr6:65709420-65709421	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186699056	chr6:65709428-65709429	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143042577	chr6:65709429-65709430	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192012096	chr6:65709441-65709442	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554647242	chr6:65709447-65709448	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111346056	chr6:65709461-65709462	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9360105	chr6:65709482-65709483	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs62416486	chr6:65709496-65709497	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs368823835	chr6:65709507-65709508	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6908095	chr6:65709514-65709515	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532659942	chr6:65709533-65709534	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552525782	chr6:65709540-65709541	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546033484	chr6:65709605-65709606	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559918358	chr6:65709606-65709607	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs7765697	chr6:65709607-65709608	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181999533	chr6:65709655-65709656	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs7746249	chr6:65709688-65709689	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs371530851	chr6:65709710-65709711	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs529689620	chr6:65709713-65709714	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs148166192	chr6:65709714-65709715	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs563281956	chr6:65709718-65709719	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65707000-65716000	Weak transcription	Pancreas	Pancrea
2	chr6:65707600-65709400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:65708400-65712000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:65709200-65709800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr6:65709400-65709600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:65709400-65709800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:65709600-65709800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:65712000-65715000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:65716000-65716200	Enhancers	Pancreas	Pancrea
10	chr6:65716400-65716800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:65716400-65717000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:65716600-65717000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:65716600-65717000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:65730400-65731000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:65731000-65740200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:65738800-65743200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:65739800-65740200	Enhancers	Pancreas	Pancrea
18	chr6:65740200-65740400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:65740200-65740600	ZNF genes & repeats	Pancreas	Pancrea
20	chr6:65743200-65743400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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