Variant report

Variant	esv8126
Chromosome Location	chr6:29685228-29688373
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr6:29687958-29688122	HepG2	liver:	n/a	n/a
2	FOXA2	chr6:29687724-29688178	A549	lung:	n/a	n/a
3	NR2F2	chr6:29687605-29687992	K562	blood:	n/a	n/a
4	NR2F2	chr6:29687525-29688018	K562	blood:	n/a	n/a
5	PBX3	chr6:29687993-29688090	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:29687343-29687488	A549	lung:	n/a	n/a
7	POLR2A	chr6:29687364-29687463	A549	lung:	n/a	n/a
8	POLR2A	chr6:29688042-29688333	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:29688078-29688168	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:29687370-29687458	A549	lung:	n/a	n/a
11	POLR2A	chr6:29687374-29687452	A549	lung:	n/a	n/a
12	REST	chr6:29687992-29688083	PANC-1	pancreas:	n/a	n/a
13	SIN3AK20	chr6:29687997-29688083	HepG2	liver:	n/a	n/a
14	SPI1	chr6:29687992-29688092	GM12878	blood:	n/a	n/a
15	USF1	chr6:29687990-29688106	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29686020-29686070	K562	blood:	n/a
2	chr6:29686020-29686070	HRCEpiC	kidney:	n/a
3	chr6:29686020-29686070	NHDF-neo	bronchial:	n/a
4	chr6:29686020-29686070	NB4	blood:	n/a
5	chr6:29686020-29686070	AoSMC	blood vessel:	n/a
6	chr6:29686020-29686070	HMEC	breast:	n/a
7	chr6:29686020-29686070	Caco-2	colon:	n/a
8	chr6:29686020-29686070	MCF10A-Er-Src	breast:	n/a
9	chr6:29686020-29686070	H1-hESC	embryonic stem cell:	embryo
10	chr6:29686020-29686070	ProgFib	skin:	n/a
11	chr6:29686020-29686070	AG09319	gingival:	n/a
12	chr6:29686020-29686070	HEEpiC	esophagus:	n/a
13	chr6:29686020-29686070	A549	lung:	n/a
14	chr6:29686020-29686070	HPAEpiC	pulmonary alveolar:	n/a
15	chr6:29686020-29686070	BJ	skin:	n/a
16	chr6:29686020-29686070	ECC-1	luminal epithelium:	n/a
17	chr6:29686020-29686070	IMR90	lung:	fetal
18	chr6:29686020-29686070	T-47D	breast:	n/a
19	chr6:29686020-29686070	HNPCEpiC	eye:	n/a
20	chr6:29686020-29686070	RPTEC	kidney:	n/a
21	chr6:29686020-29686070	HEK293	kidney:	embryo
22	chr6:29686020-29686070	HRPEpiC	eye:	n/a
23	chr6:29686020-29686070	HRE	kidney:	n/a
24	chr6:29686020-29686070	CMK	blood:	n/a
25	chr6:29686020-29686070	AG04450	lung:	fetal
26	chr6:29686020-29686070	BE2_C	brain:	n/a
27	chr6:29686020-29686070	AG04449	skin:	fetal
28	chr6:29686020-29686070	GM06990	blood:	n/a
29	chr6:29686020-29686070	GM12892	blood:	n/a
30	chr6:29686020-29686070	HCM	heart:	n/a
31	chr6:29686020-29686070	MCF-7	breast:	n/a
32	chr6:29686020-29686070	HCPEpiC	choroid plexus:	n/a
33	chr6:29686020-29686070	SK-N-SH_RA	brain:	n/a
34	chr6:29686020-29686070	ovcar-3	ovarian:	n/a
35	chr6:29686020-29686070	NHBE	bronchial:	n/a
36	chr6:29686020-29686070	GM19239	blood:	n/a
37	chr6:29686020-29686070	PrEC	prostate:	n/a
38	chr6:29686020-29686070	NT2-D1	testis:	n/a
39	chr6:29686020-29686070	Jurkat	blood:	n/a
40	chr6:29686020-29686070	SK-N-SH	brain:	n/a
41	chr6:29686020-29686070	HCT-116	colon:	n/a
42	chr6:29686020-29686070	U87	brain:	n/a
43	chr6:29686020-29686070	Hepatocyte	liver:	n/a
44	chr6:29686020-29686070	PANC-1	pancreas:	n/a
45	chr6:29686020-29686070	HAEpiC	amniotic membrane:	n/a
46	chr6:29686020-29686070	HL-60	blood:	n/a
47	chr6:29686020-29686070	SAEC	small airway:	n/a
48	chr6:29686020-29686070	PFSK-1	brain:	n/a
49	chr6:29686020-29686070	GM12878	blood:	n/a
50	chr6:29686020-29686070	HepG2	liver:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29683436..29685775-chr6:29686962..29689399,3	K562	blood:
2	chr6:29681737..29685555-chr6:29686615..29688782,3	MCF-7	breast:
3	chr6:29686730..29689127-chr6:29696614..29698519,2	K562	blood:
4	chr6:29681737..29685555-chr6:29686615..29688782,3	MCF-7	breast:
5	chr6:29683436..29685775-chr6:29686962..29689399,3	K562	blood:

No data

Variant related genes	Relation type
HLA-F	TF binding region
HLA-F	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371278614	chr6:29685235-29685236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529300686	chr6:29685243-29685244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542963122	chr6:29685268-29685269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1611352	chr6:29685277-29685278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs528619208	chr6:29685283-29685284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551560724	chr6:29685394-29685395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571391699	chr6:29685418-29685419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9258156	chr6:29685450-29685451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs199670703	chr6:29685489-29685490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367634396	chr6:29685490-29685491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567024654	chr6:29685644-29685645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371991814	chr6:29685865-29685866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375027420	chr6:29685944-29685945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550628825	chr6:29686054-29686055	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs183365369	chr6:29686363-29686364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9391897	chr6:29686870-29686871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9391898	chr6:29687001-29687002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9378215	chr6:29687101-29687102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6935743	chr6:29687298-29687299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111831996	chr6:29687385-29687386	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs367665484	chr6:29687638-29687639	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs371486642	chr6:29687786-29687787	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531295029	chr6:29687789-29687790	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs376738587	chr6:29687794-29687795	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs372531063	chr6:29688047-29688048	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs370519373	chr6:29688079-29688080	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs200768989	chr6:29688080-29688081	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs78905539	chr6:29688099-29688100	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs535809549	chr6:29688136-29688137	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs9258158	chr6:29688180-29688181	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs9258159	chr6:29688285-29688286	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs538359184	chr6:29688286-29688287	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29664000-29690600	Weak transcription	Right Atrium	heart
2	chr6:29678600-29689200	Weak transcription	GM12878-XiMat	blood
3	chr6:29681200-29688200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:29681800-29688200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:29682000-29688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:29682400-29688200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr6:29688200-29688600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:29688200-29689200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:29688200-29689800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr6:29688200-29689800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr6:29688200-29690400	Enhancers	Primary T cells fromperipheralblood	blood

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