Variant report

Variant	esv20531
Chromosome Location	chr6:60031-149517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1199)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1199 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:148499-148519	K562	blood:	n/a	n/a
2	ATF1	chr6:148754-148953	K562	blood:	n/a	n/a
3	ATF2	chr6:148471-148923	GM12878	blood:	n/a	n/a
4	ATF3	chr6:148327-148589	GM12878	blood:	n/a	n/a
5	ATF3	chr6:148311-148978	K562	blood:	n/a	n/a
6	ATF3	chr6:148446-148924	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr6:148231-148982	GM12878	blood:	n/a	n/a
8	ATF3	chr6:148591-148922	GM12878	blood:	n/a	n/a
9	ATF3	chr6:148318-148914	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr6:96223-96447	GM12878	blood:	n/a	n/a
11	BATF	chr6:96202-96545	GM12878	blood:	n/a	n/a
12	BATF	chr6:147764-147960	GM12878	blood:	n/a	n/a
13	BATF	chr6:148266-149086	GM12878	blood:	n/a	n/a
14	BATF	chr6:104763-105039	GM12878	blood:	n/a	n/a
15	BATF	chr6:95146-95375	GM12878	blood:	n/a	n/a
16	BATF	chr6:104318-104716	GM12878	blood:	n/a	n/a
17	BATF	chr6:102964-103231	GM12878	blood:	n/a	n/a
18	BATF	chr6:104782-105065	GM12878	blood:	n/a	n/a
19	BATF	chr6:105896-106124	GM12878	blood:	n/a	n/a
20	BATF	chr6:72343-72572	GM12878	blood:	n/a	n/a
21	BATF	chr6:83750-83949	GM12878	blood:	n/a	n/a
22	BATF	chr6:86401-86774	GM12878	blood:	n/a	n/a
23	BATF	chr6:148638-148982	GM12878	blood:	n/a	n/a
24	BATF	chr6:110431-110632	GM12878	blood:	n/a	n/a
25	BATF	chr6:91090-91367	GM12878	blood:	n/a	n/a
26	BATF	chr6:103020-103221	GM12878	blood:	n/a	n/a
27	BATF	chr6:90689-90981	GM12878	blood:	n/a	n/a
28	BATF	chr6:78850-79054	GM12878	blood:	n/a	n/a
29	BATF	chr6:95545-95820	GM12878	blood:	n/a	chr6:95695-95706 chr6:95686-95694
30	BATF	chr6:149172-149482	GM12878	blood:	n/a	n/a
31	BATF	chr6:95622-96139	GM12878	blood:	n/a	chr6:95695-95706 chr6:95686-95694
32	BATF	chr6:103594-103813	GM12878	blood:	n/a	n/a
33	BCL11A	chr6:115208-115379	GM12878	blood:	n/a	n/a
34	BCL11A	chr6:86763-87399	GM12878	blood:	n/a	n/a
35	BCL11A	chr6:116423-116628	GM12878	blood:	n/a	n/a
36	BCL11A	chr6:108335-108715	GM12878	blood:	n/a	n/a
37	BCL11A	chr6:106509-106699	GM12878	blood:	n/a	n/a
38	BCL11A	chr6:147772-148018	GM12878	blood:	n/a	n/a
39	BCL11A	chr6:112119-112352	GM12878	blood:	n/a	n/a
40	BCL11A	chr6:78779-79099	GM12878	blood:	n/a	n/a
41	BCL11A	chr6:114034-114568	GM12878	blood:	n/a	n/a
42	BCL11A	chr6:96233-96559	GM12878	blood:	n/a	n/a
43	BCL11A	chr6:108204-108602	GM12878	blood:	n/a	n/a
44	BCL11A	chr6:96111-96554	GM12878	blood:	n/a	n/a
45	BCL11A	chr6:102874-103445	GM12878	blood:	n/a	n/a
46	BCL11A	chr6:147742-147991	GM12878	blood:	n/a	n/a
47	BCL11A	chr6:148308-149068	GM12878	blood:	n/a	n/a
48	BCL11A	chr6:120815-121190	GM12878	blood:	n/a	n/a
49	BCL11A	chr6:121201-121435	GM12878	blood:	n/a	n/a
50	BCL11A	chr6:149231-149411	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:148112-148162	CMK	blood:	n/a
2	chr6:148299-148349	HNPCEpiC	eye:	n/a
3	chr6:148299-148349	MCF10A-Er-Src	breast:	n/a
4	chr6:148299-148349	HRE	kidney:	n/a
5	chr6:148299-148349	BE2_C	brain:	n/a
6	chr6:148112-148162	LNCaP	prostate:	n/a
7	chr6:148112-148162	HCM	heart:	n/a
8	chr6:148299-148349	HMEC	breast:	n/a
9	chr6:148299-148349	GM06990	blood:	n/a
10	chr6:148299-148349	NB4	blood:	n/a
11	chr6:148112-148162	HIPEpiC	eye:	n/a
12	chr6:148299-148349	HEK293	kidney:	embryo
13	chr6:148299-148349	AG04450	lung:	fetal
14	chr6:148299-148349	GM12891	blood:	n/a
15	chr6:148299-148349	HCT-116	colon:	n/a
16	chr6:148299-148349	GM12878	blood:	n/a
17	chr6:148299-148349	A549	lung:	n/a
18	chr6:148112-148162	AG04450	lung:	fetal
19	chr6:148112-148162	AG09309	skin:	n/a
20	chr6:148112-148162	A549	lung:	n/a
21	chr6:148299-148349	T-47D	breast:	n/a
22	chr6:148112-148162	U87	brain:	n/a
23	chr6:148112-148162	IMR90	lung:	fetal
24	chr6:148112-148162	PrEC	prostate:	n/a
25	chr6:148112-148162	HPAEpiC	pulmonary alveolar:	n/a
26	chr6:148299-148349	AG09309	skin:	n/a
27	chr6:148299-148349	MCF-7	breast:	n/a
28	chr6:148112-148162	GM06990	blood:	n/a
29	chr6:148112-148162	HMEC	breast:	n/a
30	chr6:148299-148349	Jurkat	blood:	n/a
31	chr6:148299-148349	AG10803	skin:	n/a
32	chr6:148112-148162	Caco-2	colon:	n/a
33	chr6:148299-148349	NH-A	brain:	n/a
34	chr6:148299-148349	H1-hESC	embryonic stem cell:	embryo
35	chr6:148299-148349	NHBE	bronchial:	n/a
36	chr6:148299-148349	HCF	heart:	n/a
37	chr6:148112-148162	NB4	blood:	n/a
38	chr6:148112-148162	Hela-S3	cervix:	n/a
39	chr6:148112-148162	GM12878	blood:	n/a
40	chr6:148299-148349	SK-N-SH_RA	brain:	n/a
41	chr6:148299-148349	HL-60	blood:	n/a
42	chr6:148299-148349	U87	brain:	n/a
43	chr6:148112-148162	RPTEC	kidney:	n/a
44	chr6:148299-148349	ProgFib	skin:	n/a
45	chr6:148299-148349	HCPEpiC	choroid plexus:	n/a
46	chr6:148299-148349	ovcar-3	ovarian:	n/a
47	chr6:148112-148162	ovcar-3	ovarian:	n/a
48	chr6:148112-148162	AG04449	skin:	fetal
49	chr6:148112-148162	ECC-1	luminal epithelium:	n/a
50	chr6:148112-148162	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr20:62916965..62917673-chr6:148286..148790,2	MCF-7	breast:
2	chr20:62916814..62917490-chr6:147992..148792,5	K562	blood:
3	chr20:62916743..62917542-chr6:148260..148788,5	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXOC2-7	chr6:147400-147590	NR_109817
2	lnc-AL035696.1-10	chr6:77359-77713	NONHSAT105962
3	lnc-AL035696.1-8	chr6:101546-101639	NONHSAT105964
4	lnc-AL035696.1-9	chr6:95124-95454	NONHSAT105963
5	lnc-AL035696.1-8	chr6:101119-101514	NONHSAT105964
6	lnc-EXOC2-7	chr6:134462-134855	NONHSAT105967
7	lnc-EXOC2-7	chr6:130803-133193	NONHSAT105967
8	lnc-EXOC2-7	chr6:148025-148159	NR_109817
9	lnc-AL035696.1-8	chr6:100135-100395	NONHSAT105964
10	lnc-EXOC2-7	chr6:140264-140379	NR_109817
11	lnc-AL035696.1-10	chr6:79210-81728	NONHSAT105962

No data

Variant related genes	Relation type
OR4F1P	TF binding region
CICP18	TF binding region
ENSG00000271530	TF binding region
LINC00266-3	TF binding region
OR4F1P	CpG island
CICP18	CpG island
ENSG00000271530	CpG island
LINC00266-3	CpG island

Extended variants
information (count: 151 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368476443	chr6:90129-90130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs372304507	chr6:90246-90247	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs369629360	chr6:90323-90324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs372488701	chr6:90364-90365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs111846910	chr6:90410-90411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs199785015	chr6:90737-90738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs202118147	chr6:90807-90808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs556359425	chr6:90834-90835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs374149261	chr6:90835-90836	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs199564577	chr6:92143-92144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs369413365	chr6:92744-92745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs373065985	chr6:92815-92816	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs370634928	chr6:101158-101159	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs2266177	chr6:101224-101225	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs200918172	chr6:101390-101391	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs201724427	chr6:107042-107043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs55774244	chr6:108666-108667	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs62392195	chr6:110004-110005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs4087038	chr6:110222-110223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs199942306	chr6:110240-110241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs62392197	chr6:110371-110372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs9405805	chr6:110916-110917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs62392198	chr6:110990-110991	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs78042685	chr6:111602-111603	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs374138102	chr6:130852-130853	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs376237803	chr6:130927-130928	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs370343744	chr6:131094-131095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs374063355	chr6:131634-131635	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs201496564	chr6:131967-131968	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs372692824	chr6:132019-132020	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs201148468	chr6:132230-132231	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs186119096	chr6:132283-132284	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs199568457	chr6:132284-132285	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs189840094	chr6:132285-132286	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs374521237	chr6:132316-132317	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs368525221	chr6:132349-132350	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs372827538	chr6:132357-132358	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs375294155	chr6:132419-132420	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs377476763	chr6:132528-132529	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs375455059	chr6:132544-132545	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs371029441	chr6:132572-132573	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs372495238	chr6:132577-132578	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs376806417	chr6:132635-132636	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs4036210	chr6:132870-132871	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs202221391	chr6:140281-140282	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs372365968	chr6:140356-140357	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs377150934	chr6:140368-140369	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs199852223	chr6:145563-145564	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs550217298	chr6:145579-145580	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs77207585	chr6:145615-145616	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495311	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146800-147800	Weak transcription	Right Atrium	heart
2	chr6:147600-148000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:147600-148200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr6:147800-148800	Strong transcription	Right Atrium	heart
5	chr6:148000-148400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:148800-150400	Weak transcription	Right Atrium	heart
7	chr6:149400-150800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr6:149400-151000	Enhancers	Thymus	Thymus
9	chr6:149400-154200	Enhancers	GM12878-XiMat	blood

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