Variant report

Variant	esv19219
Chromosome Location	chr6:61880260-62128238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:960)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:960 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:61893681-61894051	K562	blood:	n/a	n/a
2	ATF1	chr6:61900659-61901030	K562	blood:	n/a	n/a
3	ATF1	chr6:61913231-61913699	K562	blood:	n/a	n/a
4	BACH1	chr6:61896330-61896468	K562	blood:	n/a	n/a
5	BACH1	chr6:61913344-61914545	K562	blood:	n/a	n/a
6	BATF	chr6:61903986-61904140	GM12878	blood:	n/a	n/a
7	BATF	chr6:61911243-61911684	GM12878	blood:	n/a	n/a
8	BATF	chr6:61911262-61911961	GM12878	blood:	n/a	n/a
9	BATF	chr6:61900708-61900932	GM12878	blood:	n/a	n/a
10	BATF	chr6:61900758-61900946	GM12878	blood:	n/a	n/a
11	BATF	chr6:61906500-61906883	GM12878	blood:	n/a	n/a
12	BATF	chr6:61913946-61914451	GM12878	blood:	n/a	n/a
13	BATF	chr6:61901621-61902377	GM12878	blood:	n/a	n/a
14	BATF	chr6:61906495-61906882	GM12878	blood:	n/a	n/a
15	BATF	chr6:61905067-61905506	GM12878	blood:	n/a	n/a
16	BATF	chr6:61903872-61904180	GM12878	blood:	n/a	n/a
17	BATF	chr6:61913931-61914503	GM12878	blood:	n/a	n/a
18	BATF	chr6:61905135-61905330	GM12878	blood:	n/a	n/a
19	BATF	chr6:61888373-61888601	GM12878	blood:	n/a	n/a
20	BATF	chr6:61913277-61913558	GM12878	blood:	n/a	n/a
21	BATF	chr6:61913229-61913644	GM12878	blood:	n/a	n/a
22	BCL11A	chr6:61903960-61904124	GM12878	blood:	n/a	n/a
23	BCL11A	chr6:61913182-61913685	GM12878	blood:	n/a	n/a
24	BCL11A	chr6:61913252-61913626	GM12878	blood:	n/a	n/a
25	BCL11A	chr6:61906514-61906766	GM12878	blood:	n/a	n/a
26	BCL11A	chr6:61901624-61902402	GM12878	blood:	n/a	n/a
27	BCL11A	chr6:61910577-61911034	GM12878	blood:	n/a	n/a
28	BCL11A	chr6:61900705-61900890	GM12878	blood:	n/a	n/a
29	BCL11A	chr6:61907323-61907673	GM12878	blood:	n/a	n/a
30	BCL11A	chr6:61903857-61904265	GM12878	blood:	n/a	n/a
31	BCL11A	chr6:61911209-61912015	GM12878	blood:	n/a	n/a
32	BCL11A	chr6:61905116-61905330	GM12878	blood:	n/a	n/a
33	BCL11A	chr6:61913952-61914436	GM12878	blood:	n/a	n/a
34	BCL11A	chr6:61908296-61908564	GM12878	blood:	n/a	n/a
35	BCL11A	chr6:61906474-61906877	GM12878	blood:	n/a	n/a
36	BCL11A	chr6:61911693-61911939	GM12878	blood:	n/a	n/a
37	BCL11A	chr6:61913343-61913537	H1-hESC	embryonic stem cell:	n/a	n/a
38	BCL11A	chr6:61911238-61911684	GM12878	blood:	n/a	n/a
39	BCL11A	chr6:61913928-61914511	GM12878	blood:	n/a	n/a
40	BCL11A	chr6:61901840-61902375	GM12878	blood:	n/a	n/a
41	BHLHE40	chr6:61913892-61914443	HepG2	liver:	n/a	n/a
42	BHLHE40	chr6:61911248-61912000	HepG2	liver:	n/a	n/a
43	BHLHE40	chr6:61901565-61902108	HepG2	liver:	n/a	n/a
44	BHLHE40	chr6:61904986-61905324	HepG2	liver:	n/a	n/a
45	BHLHE40	chr6:61906484-61906907	HepG2	liver:	n/a	n/a
46	BHLHE40	chr6:61913266-61913645	HepG2	liver:	n/a	n/a
47	BHLHE40	chr6:61908373-61908543	HepG2	liver:	n/a	n/a
48	BRCA1	chr6:61903067-61903222	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr6:61913344-61914533	GM12878	blood:	n/a	n/a
50	CEBPB	chr6:62056057-62056321	HepG2	liver:	n/a	chr6:62056191-62056202

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:58777712..58778738-chr6:61909295..61909815,6	MCF-7	breast:
2	chr3:64125661..64126400-chr6:61912686..61913542,2	MCF-7	breast:
3	chr1:121483338..121485429-chr6:61912530..61914360,3	MCF-7	breast:
4	chr6:58776858..58779077-chr6:61908295..61909815,2	MCF-7	breast:
5	chr6:58777671..58778345-chr6:61909292..61909815,4	MCF-7	breast:
6	chr6:58777707..58778511-chr6:61909313..61909813,2	MCF-7	breast:
7	chr6:58777651..58778267-chr6:61909313..61909813,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KHDRBS2-4	chr6:61996403-61996816	NONHSAT113326

No data

Variant related genes	Relation type
ENSG00000221606	TF binding region
ENSG00000220030	TF binding region

Extended variants
information (count: 6312 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:6312 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377391591	chr6:61880260-61880261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs369227898	chr6:61880261-61880262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs373259978	chr6:61880265-61880266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs377572634	chr6:61880267-61880268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs370126596	chr6:61880277-61880278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs375030743	chr6:61880279-61880280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs377721331	chr6:61880285-61880286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs371388603	chr6:61880286-61880287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs374223064	chr6:61880290-61880291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs368279702	chr6:61880291-61880292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs191992023	chr6:61880299-61880300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs372035071	chr6:61880303-61880304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs374564498	chr6:61880304-61880305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs541085176	chr6:61880394-61880395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs559821632	chr6:61880397-61880398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs574656031	chr6:61880405-61880406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374304308	chr6:61880435-61880436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs527564893	chr6:61880460-61880461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs142199263	chr6:61880472-61880473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561055578	chr6:61880473-61880474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs185346492	chr6:61880476-61880477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs77753413	chr6:61880512-61880513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs527522487	chr6:61880569-61880570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs4947229	chr6:61880615-61880616	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538759218	chr6:61880616-61880617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs367806336	chr6:61880620-61880621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs189817542	chr6:61880623-61880624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs565382601	chr6:61880648-61880649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs536537542	chr6:61880679-61880680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs554850297	chr6:61880692-61880693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs560867531	chr6:61880703-61880704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs537266435	chr6:61880708-61880709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs558978668	chr6:61880718-61880719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs199665766	chr6:61880722-61880723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs541545279	chr6:61880723-61880724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559781289	chr6:61880724-61880725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs540445485	chr6:61880734-61880735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs574928559	chr6:61880747-61880748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542902941	chr6:61880749-61880750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs151143992	chr6:61880822-61880823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs531506252	chr6:61880842-61880843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs181318809	chr6:61880845-61880846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs549694409	chr6:61880863-61880864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs565116358	chr6:61880865-61880866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs185909086	chr6:61880880-61880881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs188380753	chr6:61880884-61880885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs200591524	chr6:61880945-61880946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs201915828	chr6:61880947-61880948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113229241	chr6:61880950-61880951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs113522474	chr6:61880964-61880965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	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
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Tetralogy of Fallot	22912587	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:61880200-61882000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr6:61880200-61882200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:61880800-61884400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr6:61881200-61882200	ZNF genes & repeats	Liver	Liver
5	chr6:61881400-61881800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr6:61885600-61888800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr6:61887000-61890400	ZNF genes & repeats	Liver	Liver
8	chr6:61888000-61894200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr6:61890200-61890400	ZNF genes & repeats	HepG2	liver
10	chr6:61892600-61894200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:61893400-61894000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:61893600-61894000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr6:61893600-61894000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:61893600-61894000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr6:61893600-61894000	ZNF genes & repeats	Left Ventricle	heart
16	chr6:61893600-61894200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr6:61893800-61894000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr6:61893800-61894000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:61893800-61905800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr6:61894000-61901800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:61894800-61901800	Weak transcription	K562	blood
22	chr6:61896400-61902400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr6:61897000-61898000	ZNF genes & repeats	HUVEC	blood vessel
24	chr6:61897600-61898000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:61898000-61900600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:61900200-61902800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr6:61900600-61901000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:61900600-61902400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr6:61900600-61905400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr6:61901000-61901800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:61901000-61901800	Weak transcription	Brain Angular Gyrus	brain
32	chr6:61901400-61902400	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr6:61901600-61902400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:61901600-61902600	ZNF genes & repeats	HepG2	liver
35	chr6:61901800-61902000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
36	chr6:61901800-61902000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
37	chr6:61901800-61902000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:61901800-61902000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
39	chr6:61901800-61902000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
40	chr6:61901800-61902000	ZNF genes & repeats	Brain Hippocampus Middle	brain
41	chr6:61901800-61902000	ZNF genes & repeats	Fetal Lung	lung
42	chr6:61901800-61902000	ZNF genes & repeats	A549	lung
43	chr6:61901800-61902000	ZNF genes & repeats	HSMMtube	muscle
44	chr6:61901800-61902000	ZNF genes & repeats	NHDF-Ad	bronchial
45	chr6:61901800-61902200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:61901800-61902200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:61901800-61902200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
48	chr6:61901800-61902200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:61901800-61902200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr6:61901800-61902200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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