Variant report

Variant	esv3394065
Chromosome Location	chr6:29068941-29080064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:184)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:29072609-29072627	A549	lung:	n/a	n/a
2	CTCF	chr6:29079988-29080201	MCF-7	breast:	n/a	n/a
3	CTCF	chr6:29079980-29080130	BE2_C	brain:	n/a	n/a
4	CTCF	chr6:29080000-29080150	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr6:29080009-29080105	GM13977	blood:	n/a	n/a
6	CTCF	chr6:29079988-29080193	HepG2	liver:	n/a	n/a
7	CTCF	chr6:29079998-29080193	K562	blood:	n/a	n/a
8	CTCF	chr6:29080042-29080150	LNCaP	prostate:	n/a	n/a
9	CTCF	chr6:29079940-29080090	GM12867	blood:	n/a	n/a
10	CTCF	chr6:29080000-29080150	GM12874	blood:	n/a	n/a
11	CTCF	chr6:29079959-29080198	GM12878	blood:	n/a	n/a
12	CTCF	chr6:29080000-29080150	GM12865	blood:	n/a	n/a
13	CTCF	chr6:29079980-29080130	HepG2	liver:	n/a	n/a
14	CTCF	chr6:29079820-29079970	GM12871	blood:	n/a	n/a
15	CTCF	chr6:29080040-29080190	GM06990	blood:	n/a	n/a
16	CTCF	chr6:29080028-29080175	LNCaP	prostate:	n/a	n/a
17	CTCF	chr6:29080048-29080144	GM20000	blood:	n/a	n/a
18	CTCF	chr6:29080060-29080210	GM12875	blood:	n/a	n/a
19	CTCF	chr6:29080018-29080181	GM12878	blood:	n/a	n/a
20	CTCF	chr6:29080000-29080150	HEK293	kidney:	n/a	n/a
21	CTCF	chr6:29079980-29080130	GM12872	blood:	n/a	n/a
22	CTCF	chr6:29080000-29080150	GM12878	blood:	n/a	n/a
23	CTCF	chr6:29079966-29080144	A549	lung:	n/a	n/a
24	CTCF	chr6:29079980-29080130	GM12864	blood:	n/a	n/a
25	CTCF	chr6:29080060-29080210	GM12874	blood:	n/a	n/a
26	CTCF	chr6:29080040-29080190	GM12872	blood:	n/a	n/a
27	CTCF	chr6:29080012-29080180	GM19238	blood:	n/a	n/a
28	CTCF	chr6:29079940-29080090	GM12878	blood:	n/a	n/a
29	CTCF	chr6:29079941-29080353	MCF-7	breast:	n/a	n/a
30	CTCF	chr6:29079980-29080130	GM12865	blood:	n/a	n/a
31	CTCF	chr6:29080046-29080111	Fibrobl	skin:	n/a	n/a
32	CTCF	chr6:29080017-29080156	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr6:29080016-29080183	NHEK	skin:	n/a	n/a
34	CTCF	chr6:29080020-29080170	A549	lung:	n/a	n/a
35	CTCF	chr6:29079960-29080110	HL-60	blood:	n/a	n/a
36	CTCF	chr6:29079985-29080226	MCF-7	breast:	n/a	n/a
37	CTCF	chr6:29079963-29080239	MCF-7	breast:	n/a	n/a
38	CTCF	chr6:29080020-29080170	BE2_C	brain:	n/a	n/a
39	CTCF	chr6:29080060-29080210	HCT-116	colon:	n/a	n/a
40	CTCF	chr6:29079992-29080201	A549	lung:	n/a	n/a
41	CTCF	chr6:29080000-29080150	HepG2	liver:	n/a	n/a
42	CTCF	chr6:29080000-29080150	GM12873	blood:	n/a	n/a
43	CTCF	chr6:29079999-29080190	HepG2	liver:	n/a	n/a
44	CTCF	chr6:29079966-29080216	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr6:29080048-29080130	GM13976	blood:	n/a	n/a
46	CTCF	chr6:29080013-29080188	MCF-7	breast:	n/a	n/a
47	CTCF	chr6:29079960-29080110	RPTEC	kidney:	n/a	n/a
48	CTCF	chr6:29079913-29080288	K562	blood:	n/a	n/a
49	CTCF	chr6:29079982-29080220	Gliobla	brain:	n/a	n/a
50	CTCF	chr6:29079893-29080223	K562	blood:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29079991-29080041	NHDF-neo	bronchial:	n/a
2	chr6:29079991-29080041	NHDF-neo	bronchial:	n/a
3	chr6:29079939-29079989	BE2_C	brain:	n/a
4	chr6:29079939-29079989	HCF	heart:	n/a
5	chr6:29079991-29080041	BJ	skin:	n/a
6	chr6:29079991-29080041	SK-N-MC	brain:	n/a
7	chr6:29079939-29079989	GM12891	blood:	n/a
8	chr6:29079991-29080041	SKMC	muscle:	n/a
9	chr6:29080040-29080090	HEEpiC	esophagus:	n/a
10	chr6:29080040-29080090	Hela-S3	cervix:	n/a
11	chr6:29079939-29079989	AG09319	gingival:	n/a
12	chr6:29079939-29079989	K562	blood:	n/a
13	chr6:29079991-29080041	HCF	heart:	n/a
14	chr6:29079939-29079989	HUVEC	blood vessel:	n/a
15	chr6:29080040-29080090	GM12878	blood:	n/a
16	chr6:29079939-29079989	T-47D	breast:	n/a
17	chr6:29079991-29080041	GM06990	blood:	n/a
18	chr6:29080040-29080090	SK-N-MC	brain:	n/a
19	chr6:29079991-29080041	ProgFib	skin:	n/a
20	chr6:29080040-29080090	PrEC	prostate:	n/a
21	chr6:29080040-29080090	SK-N-SH_RA	brain:	n/a
22	chr6:29080040-29080090	HCPEpiC	choroid plexus:	n/a
23	chr6:29079939-29079989	LNCaP	prostate:	n/a
24	chr6:29079991-29080041	T-47D	breast:	n/a
25	chr6:29080040-29080090	CMK	blood:	n/a
26	chr6:29079991-29080041	LNCaP	prostate:	n/a
27	chr6:29079991-29080041	HMEC	breast:	n/a
28	chr6:29080040-29080090	HCM	heart:	n/a
29	chr6:29079991-29080041	H1-hESC	embryonic stem cell:	embryo
30	chr6:29079939-29079989	HEEpiC	esophagus:	n/a
31	chr6:29079991-29080041	GM19239	blood:	n/a
32	chr6:29080040-29080090	SKMC	muscle:	n/a
33	chr6:29079939-29079989	AoSMC	blood vessel:	n/a
34	chr6:29079991-29080041	ovcar-3	ovarian:	n/a
35	chr6:29080040-29080090	SAEC	small airway:	n/a
36	chr6:29079991-29080041	AG04450	lung:	fetal
37	chr6:29079939-29079989	NH-A	brain:	n/a
38	chr6:29080040-29080090	H1-hESC	embryonic stem cell:	embryo
39	chr6:29079991-29080041	A549	lung:	n/a
40	chr6:29079991-29080041	HPAEpiC	pulmonary alveolar:	n/a
41	chr6:29079939-29079989	IMR90	lung:	fetal
42	chr6:29079939-29079989	U87	brain:	n/a
43	chr6:29079939-29079989	NB4	blood:	n/a
44	chr6:29079939-29079989	NT2-D1	testis:	n/a
45	chr6:29080040-29080090	Hepatocyte	liver:	n/a
46	chr6:29079939-29079989	AG09309	skin:	n/a
47	chr6:29080040-29080090	HPAEpiC	pulmonary alveolar:	n/a
48	chr6:29080040-29080090	NHDF-neo	bronchial:	n/a
49	chr6:29080040-29080090	MCF10A-Er-Src	breast:	n/a
50	chr6:29079939-29079989	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29046568..29048555-chr6:29075122..29077377,2	K562	blood:

No data

Variant related genes	Relation type
OR2J3	TF binding region
OR2J3	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534950371	chr6:29075418-29075419	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs555706607	chr6:29075442-29075443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558060229	chr6:29075461-29075462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs191033311	chr6:29075463-29075464	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs532723556	chr6:29076618-29076619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536445324	chr6:29076644-29076645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555483773	chr6:29076649-29076650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572169330	chr6:29076717-29076718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534701138	chr6:29076779-29076780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75320886	chr6:29076835-29076836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117029999	chr6:29076862-29076863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs41317439	chr6:29076883-29076884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs571546818	chr6:29076955-29076956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557629541	chr6:29076961-29076962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187459905	chr6:29076962-29076963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192838333	chr6:29076971-29076972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376984854	chr6:29077004-29077005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543202172	chr6:29077083-29077084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184927024	chr6:29077120-29077121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371406105	chr6:29077123-29077124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528163450	chr6:29077186-29077187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536745051	chr6:29077187-29077188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539876875	chr6:29077320-29077321	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs545035254	chr6:29077329-29077330	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs564760412	chr6:29077346-29077347	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs3129097	chr6:29077353-29077354	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs377385305	chr6:29077354-29077355	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs189388075	chr6:29077357-29077358	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs56066225	chr6:29077391-29077392	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529860598	chr6:29077399-29077400	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs375529961	chr6:29077403-29077404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs181339397	chr6:29077423-29077424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs375417632	chr6:29077424-29077425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs184513635	chr6:29077426-29077427	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs534761056	chr6:29077432-29077433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	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
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29076600-29077400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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