Variant report

Variant	nsv1031787
Chromosome Location	chr6:63273240-63370651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:205)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:205 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:63343076-63343099	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr6:63275845-63276042	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr6:63297856-63298053	H1-hESC	embryonic stem cell:	n/a	n/a
4	CBX3	chr6:63362679-63362919	K562	blood:	n/a	n/a
5	CBX3	chr6:63362595-63362988	HCT-116	colon:	n/a	n/a
6	CBX3	chr6:63362575-63362854	K562	blood:	n/a	n/a
7	CEBPB	chr6:63316649-63316921	HepG2	liver:	n/a	n/a
8	CEBPB	chr6:63326483-63326806	MCF-7	breast:	n/a	chr6:63326660-63326671
9	CEBPB	chr6:63326560-63326798	MCF-7	breast:	n/a	chr6:63326660-63326671
10	CEBPB	chr6:63326531-63326747	HepG2	liver:	n/a	chr6:63326660-63326671
11	CEBPB	chr6:63350553-63351067	A549	lung:	n/a	chr6:63350634-63350645
12	CEBPB	chr6:63311156-63311399	A549	lung:	n/a	n/a
13	CEBPB	chr6:63350334-63350675	HepG2	liver:	n/a	chr6:63350634-63350645 chr6:63350477-63350488 chr6:63350476-63350489
14	CEBPB	chr6:63311181-63311407	MCF-7	breast:	n/a	n/a
15	CEBPZ	chr6:63362626-63362905	HepG2	liver:	n/a	n/a
16	CHD1	chr6:63347777-63347984	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr6:63297860-63298054	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr6:63324400-63324550	BE2_C	brain:	n/a	n/a
19	CTCF	chr6:63324440-63324590	GM12864	blood:	n/a	n/a
20	CTCF	chr6:63367830-63368001	LNCaP	prostate:	n/a	n/a
21	CTCF	chr6:63324480-63324630	GM12868	blood:	n/a	n/a
22	CTCF	chr6:63324500-63324650	HEK293	kidney:	n/a	n/a
23	CTCF	chr6:63324460-63324610	HRE	kidney:	n/a	n/a
24	CTCF	chr6:63324500-63324650	GM12872	blood:	n/a	n/a
25	CTCF	chr6:63324480-63324630	GM12870	blood:	n/a	n/a
26	CTCF	chr6:63324460-63324610	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr6:63324460-63324610	NB4	blood:	n/a	n/a
28	CTCF	chr6:63324535-63324564	GM13977	blood:	n/a	n/a
29	CTCF	chr6:63324500-63324650	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr6:63324523-63324593	MCF-7	breast:	n/a	n/a
31	CTCF	chr6:63324440-63324590	GM12872	blood:	n/a	n/a
32	CTCF	chr6:63324575-63324586	GM19239	blood:	n/a	n/a
33	CTCF	chr6:63324400-63324550	K562	blood:	n/a	n/a
34	CTCF	chr6:63323638-63323670	GM20000	blood:	n/a	n/a
35	CTCF	chr6:63324480-63324630	GM12866	blood:	n/a	n/a
36	CTCF	chr6:63324533-63324595	GM19240	blood:	n/a	n/a
37	CTCF	chr6:63324460-63324610	GM12874	blood:	n/a	n/a
38	CTCF	chr6:63324220-63324370	GM12864	blood:	n/a	n/a
39	CTCF	chr6:63324480-63324630	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr6:63324460-63324610	HepG2	liver:	n/a	n/a
41	CTCF	chr6:63324517-63324594	GM12891	blood:	n/a	n/a
42	CTCF	chr6:63324480-63324630	GM12873	blood:	n/a	n/a
43	CTCF	chr6:63324480-63324630	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr6:63325812-63325894	HepG2	liver:	n/a	n/a
45	CTCF	chr6:63324480-63324630	GM12864	blood:	n/a	n/a
46	CTCF	chr6:63324538-63324611	GM12878	blood:	n/a	n/a
47	CTCF	chr6:63324492-63324631	MCF-7	breast:	n/a	n/a
48	CTCF	chr6:63325860-63326010	GM12872	blood:	n/a	n/a
49	CTCF	chr6:63324460-63324610	HL-60	blood:	n/a	n/a
50	CTCF	chr6:63324260-63324410	NB4	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:63278592..63281366-chr6:63283322..63285509,2	MCF-7	breast:
2	chr6:63278592..63281366-chr6:63283322..63285509,2	MCF-7	breast:
3	chr1:17229945..17231648-chr6:63349079..63350580,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KHDRBS2-3	chr6:63298023-63298059	NONHSAT113335
2	lnc-KHDRBS2-3	chr6:63297418-63297607	NONHSAT113335

No data

Variant related genes	Relation type
ENSG00000262566	TF binding region
ENSG00000272426	chromatin interactions

Extended variants
information (count: 2600 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2600 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551074153	chr6:63279603-63279604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566102398	chr6:63279605-63279606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187015928	chr6:63279668-63279669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533531256	chr6:63279703-63279704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548167766	chr6:63279705-63279706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555375102	chr6:63279713-63279714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573843505	chr6:63279714-63279715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78995818	chr6:63279723-63279724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192322015	chr6:63279740-63279741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558029560	chr6:63279797-63279798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184667045	chr6:63279804-63279805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563942519	chr6:63279836-63279837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556347049	chr6:63279857-63279858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577929043	chr6:63279863-63279864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546290860	chr6:63279872-63279873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564551665	chr6:63279874-63279875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62418245	chr6:63279877-63279878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566304260	chr6:63279878-63279879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76521866	chr6:63279879-63279880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573322111	chr6:63279884-63279885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540259655	chr6:63279896-63279897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9446666	chr6:63279914-63279915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529517979	chr6:63279922-63279923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370258244	chr6:63279927-63279928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550873961	chr6:63279958-63279959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562705177	chr6:63279974-63279975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573317752	chr6:63279980-63279981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533367498	chr6:63279986-63279987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551586404	chr6:63279991-63279992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138105623	chr6:63279993-63279994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533927481	chr6:63280000-63280001	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs548697056	chr6:63280001-63280002	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567256151	chr6:63280015-63280016	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538104376	chr6:63280023-63280024	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9446667	chr6:63280029-63280030	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs373938317	chr6:63280049-63280050	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543772888	chr6:63280077-63280078	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555409686	chr6:63280086-63280087	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201513485	chr6:63280090-63280091	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189130774	chr6:63280111-63280112	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573255992	chr6:63280127-63280128	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182504420	chr6:63280136-63280137	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9689019	chr6:63280143-63280144	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573992755	chr6:63280160-63280161	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184601924	chr6:63280209-63280210	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532441270	chr6:63280220-63280221	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371268239	chr6:63280263-63280264	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189002057	chr6:63280268-63280269	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560783587	chr6:63280311-63280312	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527349723	chr6:63280318-63280319	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Acute lymphoblastic leukemia	20435627	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
Myelofibrosis	22110671	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
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63279600-63281200	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:63279800-63280000	Enhancers	Primary B cells from cord blood	blood
3	chr6:63280000-63280400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr6:63280400-63281400	Enhancers	Primary B cells from cord blood	blood
5	chr6:63293200-63294200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:63293400-63293800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:63293400-63294400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:63293800-63294000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:63293800-63294400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:63293800-63297800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:63294400-63297800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:63295200-63297800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:63297800-63298000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:63297800-63298000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:63297800-63298000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr6:63297800-63298000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
17	chr6:63297800-63298000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr6:63297800-63298000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr6:63297800-63298000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:63297800-63298000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
21	chr6:63297800-63298000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr6:63297800-63298000	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr6:63297800-63298000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:63297800-63298000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr6:63297800-63298000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
26	chr6:63297800-63298000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:63297800-63298000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
28	chr6:63297800-63298000	ZNF genes & repeats	Colon Smooth Muscle	Colon
29	chr6:63297800-63298000	ZNF genes & repeats	Gastric	stomach
30	chr6:63297800-63298000	ZNF genes & repeats	Stomach Mucosa	stomach
31	chr6:63297800-63298200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr6:63297800-63298200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
33	chr6:63298000-63304800	Weak transcription	Gastric	stomach
34	chr6:63298200-63298800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:63298200-63301000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:63301000-63301200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr6:63318600-63319600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:63318800-63319600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr6:63318800-63320000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:63319000-63319400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr6:63319000-63319800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:63319200-63319400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:63319400-63319600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr6:63319400-63319800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:63319400-63320000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr6:63319400-63320000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr6:63319400-63323800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:63321800-63323000	Enhancers	Fetal Intestine Small	intestine
49	chr6:63322000-63322400	Enhancers	Stomach Mucosa	stomach
50	chr6:63322000-63322600	Enhancers	Fetal Intestine Large	intestine

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