Variant report

Variant	nsv885892
Chromosome Location	chr6:54344853-54458991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:256)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:54432582-54432614	K562	blood:	n/a	n/a
2	BACH1	chr6:54356311-54356514	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr6:54402647-54402686	K562	blood:	n/a	n/a
4	BHLHE40	chr6:54453873-54453958	GM12878	blood:	n/a	n/a
5	BRCA1	chr6:54424810-54424911	H1-hESC	embryonic stem cell:	n/a	n/a
6	CBX3	chr6:54357824-54358432	HCT-116	colon:	n/a	n/a
7	CEBPB	chr6:54443238-54443586	H1-hESC	embryonic stem cell:	n/a	chr6:54443403-54443416 chr6:54443403-54443416 chr6:54443404-54443415
8	CEBPB	chr6:54451121-54451385	A549	lung:	n/a	n/a
9	CEBPB	chr6:54381717-54381994	A549	lung:	n/a	n/a
10	CEBPB	chr6:54451104-54451434	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr6:54439558-54439892	MCF-7	breast:	n/a	chr6:54439734-54439745 chr6:54439734-54439745
12	CEBPB	chr6:54357925-54358248	IMR90	lung:	n/a	n/a
13	CEBPB	chr6:54451109-54451413	HepG2	liver:	n/a	n/a
14	CEBPB	chr6:54381778-54382077	IMR90	lung:	n/a	n/a
15	CEBPB	chr6:54359429-54359584	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr6:54357794-54358385	HCT-116	colon:	n/a	n/a
17	CEBPB	chr6:54410771-54410975	HepG2	liver:	n/a	chr6:54410877-54410888
18	CEBPB	chr6:54451079-54451429	IMR90	lung:	n/a	n/a
19	CEBPB	chr6:54410817-54410937	H1-hESC	embryonic stem cell:	n/a	chr6:54410877-54410888
20	CEBPB	chr6:54381710-54382048	HepG2	liver:	n/a	n/a
21	CEBPB	chr6:54443257-54443576	HepG2	liver:	n/a	chr6:54443403-54443416 chr6:54443403-54443416 chr6:54443404-54443415
22	CEBPB	chr6:54441221-54441514	A549	lung:	n/a	chr6:54441352-54441365
23	CTCF	chr6:54410740-54410890	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr6:54379860-54380010	SAEC	small airway:	n/a	n/a
25	CTCF	chr6:54345760-54345910	GM06990	blood:	n/a	n/a
26	CTCF	chr6:54379920-54380070	HRE	kidney:	n/a	n/a
27	CTCF	chr6:54397740-54397890	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr6:54379920-54380070	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr6:54345783-54345788	GM19238	blood:	n/a	n/a
30	CTCF	chr6:54421058-54421109	GM20000	blood:	n/a	n/a
31	CTCF	chr6:54396076-54396115	GM10266	blood:	n/a	n/a
32	CTCF	chr6:54379800-54379950	HMEC	breast:	n/a	n/a
33	CTCF	chr6:54379894-54380126	Medullo	brain:	n/a	n/a
34	CTCF	chr6:54455960-54456110	AG10803	skin:	n/a	n/a
35	CTCF	chr6:54379848-54380121	HCT-116	colon:	n/a	n/a
36	CTCF	chr6:54379938-54380072	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr6:54379940-54380090	RPTEC	kidney:	n/a	n/a
38	CTCF	chr6:54379840-54379990	HRE	kidney:	n/a	n/a
39	CTCF	chr6:54415226-54415289	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr6:54345161-54345253	GM13976	blood:	n/a	n/a
41	CTCF	chr6:54379944-54380101	MCF-7	breast:	n/a	n/a
42	CTCF	chr6:54409621-54409673	GM20000	blood:	n/a	n/a
43	CTCF	chr6:54413396-54413437	GM10248	blood:	n/a	n/a
44	CTCF	chr6:54379940-54380090	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr6:54379954-54380077	MCF-7	breast:	n/a	n/a
46	CTCF	chr6:54379940-54380090	HMEC	breast:	n/a	n/a
47	CTCF	chr6:54379960-54380110	Caco-2	colon:	n/a	n/a
48	CTCF	chr6:54415231-54415257	MCF-7	breast:	n/a	n/a
49	CTCF	chr6:54379900-54380050	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr6:54379920-54380070	SAEC	small airway:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:54445130..54447694-chr6:54452087..54454495,2	K562	blood:
2	chr6:54445130..54447694-chr6:54452087..54454495,2	K562	blood:
3	chr6:54383919..54385673-chr6:54387884..54389679,2	MCF-7	breast:
4	chr6:54438796..54440751-chr6:54452137..54454145,2	MCF-7	breast:
5	chr6:54438796..54440751-chr6:54452137..54454145,2	MCF-7	breast:
6	chr6:54433346..54436074-chr6:54443412..54445005,2	MCF-7	breast:
7	chr6:54383919..54385673-chr6:54387884..54389679,2	MCF-7	breast:
8	chr6:54433346..54436074-chr6:54443412..54445005,2	MCF-7	breast:

No data

Variant related genes	Relation type
CLNS1AP1	TF binding region

Extended variants
information (count: 2655 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2655 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555666580	chr6:54346034-54346035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200411123	chr6:54346064-54346065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201621514	chr6:54346065-54346066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541100260	chr6:54346094-54346095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs36063873	chr6:54346135-54346136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577752861	chr6:54346153-54346154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543438778	chr6:54346204-54346205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534227891	chr6:54346223-54346224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563627283	chr6:54346232-54346233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533380976	chr6:54346255-54346256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186115403	chr6:54346330-54346331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542821762	chr6:54346368-54346369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559252767	chr6:54346372-54346373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527780982	chr6:54346388-54346389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78828070	chr6:54351158-54351159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs570217998	chr6:54351185-54351186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs74884124	chr6:54351337-54351338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs547727996	chr6:54351373-54351374	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs34632471	chr6:54351498-54351499	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs571031942	chr6:54351502-54351503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs540056136	chr6:54351534-54351535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs371650351	chr6:54351550-54351551	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs116433208	chr6:54351562-54351563	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs190259907	chr6:54351585-54351586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs535499111	chr6:54351594-54351595	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs545483004	chr6:54351603-54351604	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs564959386	chr6:54351630-54351631	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs555414400	chr6:54351638-54351639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs70983427	chr6:54352856-54352857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147919987	chr6:54352857-54352858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572209890	chr6:54352876-54352877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541127803	chr6:54352910-54352911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564596970	chr6:54352912-54352913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533219018	chr6:54352939-54352940	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs192183035	chr6:54352943-54352944	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs563863159	chr6:54352945-54352946	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs529579132	chr6:54352954-54352955	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs144855823	chr6:54352956-54352957	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs549623134	chr6:54353027-54353028	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs374419659	chr6:54353088-54353089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566235739	chr6:54353124-54353125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111688165	chr6:54353135-54353136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115147947	chr6:54353151-54353152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551232775	chr6:54353157-54353158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs476681	chr6:54353182-54353183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs76378690	chr6:54353221-54353222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570376844	chr6:54353245-54353246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542905208	chr6:54353250-54353251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567244560	chr6:54353259-54353260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536093709	chr6:54353281-54353282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54346000-54346400	Enhancers	Gastric	stomach
2	chr6:54352800-54355400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:54355200-54358400	Enhancers	HMEC	breast
4	chr6:54355400-54356000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:54355400-54358000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:54355400-54358400	Enhancers	NHEK	skin
7	chr6:54355600-54358800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:54355800-54356400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:54355800-54356400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr6:54355800-54357600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:54356000-54356400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:54356000-54357800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:54356400-54356800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:54356800-54358400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:54357000-54358400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:54357600-54358200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:54357600-54358200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:54357600-54358400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:54357800-54358200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:54357800-54358200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:54357800-54358200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:54357800-54358200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:54357800-54358200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:54357800-54358200	Enhancers	A549	lung
25	chr6:54357800-54358200	Enhancers	Hela-S3	cervix
26	chr6:54357800-54358400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:54357800-54358400	Enhancers	HUVEC	blood vessel
28	chr6:54357800-54358400	Enhancers	Osteobl	bone
29	chr6:54357800-54358600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:54358000-54358400	Enhancers	NH-A	brain
31	chr6:54358000-54360200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:54358200-54358400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:54358200-54359200	Weak transcription	Hela-S3	cervix
34	chr6:54358400-54359400	Weak transcription	HMEC	breast
35	chr6:54359200-54359400	Enhancers	Hela-S3	cervix
36	chr6:54359400-54359600	Enhancers	HMEC	breast
37	chr6:54360200-54361600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:54361600-54391000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:54380000-54381400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:54380000-54381400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:54380400-54380800	Enhancers	NHEK	skin
42	chr6:54380400-54381400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:54380800-54381200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:54384200-54384600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr6:54391000-54391200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:54398600-54399000	Enhancers	Fetal Brain Male	brain
47	chr6:54404400-54404800	Enhancers	Osteobl	bone
48	chr6:54404800-54405800	Weak transcription	Osteobl	bone
49	chr6:54405800-54407000	Enhancers	Osteobl	bone
50	chr6:54406000-54406800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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