Variant report

Variant	esv3512550
Chromosome Location	chr6:29067694-29139488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:209)
CpG islands
(count:978)
Chromatin interactive
region (count:5)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:209 , 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	BRCA1	chr6:29085310-29085494	Hela-S3	cervix:	n/a	n/a
2	CBX3	chr6:29110427-29110694	K562	blood:	n/a	n/a
3	CEBPB	chr6:29105558-29105887	MCF-7	breast:	n/a	n/a
4	CEBPB	chr6:29072609-29072627	A549	lung:	n/a	n/a
5	CEBPB	chr6:29105506-29105875	HepG2	liver:	n/a	n/a
6	CEBPB	chr6:29105551-29105846	IMR90	lung:	n/a	n/a
7	CEBPB	chr6:29105537-29105852	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr6:29114019-29114422	Hela-S3	cervix:	n/a	chr6:29114234-29114245
9	CEBPB	chr6:29114085-29114404	HepG2	liver:	n/a	chr6:29114234-29114245
10	CEBPB	chr6:29114942-29115242	A549	lung:	n/a	chr6:29115098-29115109
11	CEBPB	chr6:29115465-29115665	A549	lung:	n/a	n/a
12	CEBPB	chr6:29105530-29105876	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr6:29105510-29105876	A549	lung:	n/a	n/a
14	CEBPB	chr6:29105509-29105880	K562	blood:	n/a	n/a
15	CEBPB	chr6:29114975-29115701	HepG2	liver:	n/a	chr6:29115098-29115109
16	CEBPB	chr6:29114947-29115751	IMR90	lung:	n/a	chr6:29115098-29115109
17	CEBPB	chr6:29109974-29110510	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr6:29114877-29115699	Hela-S3	cervix:	n/a	chr6:29115098-29115109
19	CEBPB	chr6:29114969-29115710	K562	blood:	n/a	chr6:29115098-29115109
20	CTCF	chr6:29079966-29080144	A549	lung:	n/a	n/a
21	CTCF	chr6:29079820-29079970	GM12871	blood:	n/a	n/a
22	CTCF	chr6:29079941-29080353	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:29079966-29080216	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr6:29079998-29080193	K562	blood:	n/a	n/a
25	CTCF	chr6:29080080-29080230	HEK293	kidney:	n/a	n/a
26	CTCF	chr6:29079951-29080251	MCF-7	breast:	n/a	n/a
27	CTCF	chr6:29079995-29080189	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr6:29079985-29080226	MCF-7	breast:	n/a	n/a
29	CTCF	chr6:29080020-29080170	GM12871	blood:	n/a	n/a
30	CTCF	chr6:29080053-29080145	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr6:29079980-29080130	GM12865	blood:	n/a	n/a
32	CTCF	chr6:29080060-29080210	GM06990	blood:	n/a	n/a
33	CTCF	chr6:29080100-29080250	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:29079913-29080288	K562	blood:	n/a	n/a
35	CTCF	chr6:29080040-29080190	GM12873	blood:	n/a	n/a
36	CTCF	chr6:29080020-29080170	BE2_C	brain:	n/a	n/a
37	CTCF	chr6:29079960-29080110	HL-60	blood:	n/a	n/a
38	CTCF	chr6:29079980-29080130	GM12872	blood:	n/a	n/a
39	CTCF	chr6:29133508-29133553	MCF-7	breast:	n/a	n/a
40	CTCF	chr6:29079914-29080253	K562	blood:	n/a	n/a
41	CTCF	chr6:29080060-29080210	GM12875	blood:	n/a	n/a
42	CTCF	chr6:29080048-29080144	GM20000	blood:	n/a	n/a
43	CTCF	chr6:29079980-29080130	BE2_C	brain:	n/a	n/a
44	CTCF	chr6:29133537-29133577	MCF-7	breast:	n/a	n/a
45	CTCF	chr6:29080019-29080151	GM12891	blood:	n/a	n/a
46	CTCF	chr6:29080000-29080150	HMEC	breast:	n/a	n/a
47	CTCF	chr6:29080080-29080230	K562	blood:	n/a	n/a
48	CTCF	chr6:29079963-29080239	MCF-7	breast:	n/a	n/a
49	CTCF	chr6:29080081-29080126	Medullo	brain:	n/a	n/a
50	CTCF	chr6:29079982-29080220	Gliobla	brain:	n/a	n/a

(count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29133961-29134011	NHDF-neo	bronchial:	n/a
2	chr6:29079939-29079989	HL-60	blood:	n/a
3	chr6:29133961-29134011	NHDF-neo	bronchial:	n/a
4	chr6:29079939-29079989	HL-60	blood:	n/a
5	chr6:29127982-29128032	PANC-1	pancreas:	n/a
6	chr6:29130035-29130085	HNPCEpiC	eye:	n/a
7	chr6:29133961-29134011	A549	lung:	n/a
8	chr6:29133972-29134022	HIPEpiC	eye:	n/a
9	chr6:29125104-29125154	BJ	skin:	n/a
10	chr6:29133972-29134022	SK-N-MC	brain:	n/a
11	chr6:29079939-29079989	GM06990	blood:	n/a
12	chr6:29127979-29128029	Jurkat	blood:	n/a
13	chr6:29133505-29133555	HRPEpiC	eye:	n/a
14	chr6:29137756-29137806	HPAEpiC	pulmonary alveolar:	n/a
15	chr6:29133085-29133135	HL-60	blood:	n/a
16	chr6:29133972-29134022	GM12892	blood:	n/a
17	chr6:29127871-29127921	GM12892	blood:	n/a
18	chr6:29133961-29134011	Caco-2	colon:	n/a
19	chr6:29133961-29134011	HUVEC	blood vessel:	n/a
20	chr6:29079991-29080041	MCF-7	breast:	n/a
21	chr6:29125104-29125154	AG04450	lung:	fetal
22	chr6:29080437-29080487	U87	brain:	n/a
23	chr6:29125104-29125154	GM12878	blood:	n/a
24	chr6:29137756-29137806	IMR90	lung:	fetal
25	chr6:29079991-29080041	PrEC	prostate:	n/a
26	chr6:29079991-29080041	AoSMC	blood vessel:	n/a
27	chr6:29080239-29080289	BJ	skin:	n/a
28	chr6:29080239-29080289	SK-N-SH	brain:	n/a
29	chr6:29127871-29127921	SK-N-SH	brain:	n/a
30	chr6:29127871-29127921	HCPEpiC	choroid plexus:	n/a
31	chr6:29079991-29080041	K562	blood:	n/a
32	chr6:29133085-29133135	T-47D	breast:	n/a
33	chr6:29133961-29134011	GM06990	blood:	n/a
34	chr6:29127871-29127921	ProgFib	skin:	n/a
35	chr6:29127979-29128029	SKMC	muscle:	n/a
36	chr6:29080437-29080487	NB4	blood:	n/a
37	chr6:29133085-29133135	GM19239	blood:	n/a
38	chr6:29080437-29080487	ECC-1	luminal epithelium:	n/a
39	chr6:29130035-29130085	AoSMC	blood vessel:	n/a
40	chr6:29080437-29080487	AG04450	lung:	fetal
41	chr6:29133961-29134011	HMEC	breast:	n/a
42	chr6:29127871-29127921	Caco-2	colon:	n/a
43	chr6:29080437-29080487	AG09319	gingival:	n/a
44	chr6:29079991-29080041	HIPEpiC	eye:	n/a
45	chr6:29127871-29127921	NHBE	bronchial:	n/a
46	chr6:29127982-29128032	BJ	skin:	n/a
47	chr6:29080239-29080289	NT2-D1	testis:	n/a
48	chr6:29079939-29079989	NB4	blood:	n/a
49	chr6:29125104-29125154	BE2_C	brain:	n/a
50	chr6:29133961-29134011	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:29046568..29048555-chr6:29075122..29077377,2	K562	blood:
2	chr6:29116682..29119190-chr6:29125085..29127105,2	K562	blood:
3	chr6:29116682..29119190-chr6:29125085..29127105,2	K562	blood:
4	chr6:29016217..29018909-chr6:29120286..29121903,2	K562	blood:
5	chr6:29133273..29134852-chr6:29140182..29142699,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR2J3-7	chr6:29091978-29092123	NONHSAT108511
2	lnc-OR2J3-7	chr6:29096487-29096622	NONHSAT108511
3	lnc-OR2J3-7	chr6:29091987-29092123	XLOC_005228
4	lnc-OR2J3-7	chr6:29096434-29096685	XLOC_005228
5	lnc-OR2B3-3	chr6:29104221-29104383	l_3154_chr6:29104220-29111736_testes
6	lnc-OR2B3-3	chr6:29111581-29111736	l_3154_chr6:29104220-29111736_testes

No data

Variant related genes	Relation type
ENSG00000227206	TF binding region
OR2J1	TF binding region
OR2N1P	TF binding region
OR2J3	TF binding region
OR2J2	TF binding region
ENSG00000227206	CpG island
OR2J1	CpG island
OR2N1P	CpG island
OR2J3	CpG island
OR2J2	CpG island
ENSG00000204700	chromatin interactions

Extended variants
information (count: 320 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386698360	chr6:29068143-29068144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs111441315	chr6:29068167-29068168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs534950371	chr6:29075418-29075419	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs555706607	chr6:29075442-29075443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs558060229	chr6:29075461-29075462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs191033311	chr6:29075463-29075464	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs532723556	chr6:29076618-29076619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536445324	chr6:29076644-29076645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555483773	chr6:29076649-29076650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572169330	chr6:29076717-29076718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534701138	chr6:29076779-29076780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75320886	chr6:29076835-29076836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117029999	chr6:29076862-29076863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs41317439	chr6:29076883-29076884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571546818	chr6:29076955-29076956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557629541	chr6:29076961-29076962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187459905	chr6:29076962-29076963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192838333	chr6:29076971-29076972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376984854	chr6:29077004-29077005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543202172	chr6:29077083-29077084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184927024	chr6:29077120-29077121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371406105	chr6:29077123-29077124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528163450	chr6:29077186-29077187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536745051	chr6:29077187-29077188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539876875	chr6:29077320-29077321	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs545035254	chr6:29077329-29077330	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs564760412	chr6:29077346-29077347	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs3129097	chr6:29077353-29077354	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs377385305	chr6:29077354-29077355	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs189388075	chr6:29077357-29077358	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs56066225	chr6:29077391-29077392	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529860598	chr6:29077399-29077400	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs375529961	chr6:29077403-29077404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs181339397	chr6:29077423-29077424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs375417632	chr6:29077424-29077425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs184513635	chr6:29077426-29077427	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs534761056	chr6:29077432-29077433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs186091287	chr6:29089806-29089807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs556495647	chr6:29089818-29089819	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs568665171	chr6:29089829-29089830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs576346453	chr6:29089873-29089874	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs144391995	chr6:29089877-29089878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs539732915	chr6:29089897-29089898	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs190949086	chr6:29089929-29089930	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs574961145	chr6:29089938-29089939	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs540639973	chr6:29089956-29089957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs560321869	chr6:29089993-29089994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs549775792	chr6:29091093-29091094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs569985000	chr6:29091137-29091138	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs112832097	chr6:29091185-29091186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 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
2	chr6:29097200-29098800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:29097600-29097800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
4	chr6:29098400-29099000	Enhancers	Fetal Brain Male	brain
5	chr6:29099000-29099200	Weak transcription	Fetal Brain Male	brain
6	chr6:29099600-29099800	Enhancers	Fetal Brain Male	brain
7	chr6:29110000-29112000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:29113800-29115400	Enhancers	Hela-S3	cervix
9	chr6:29114200-29114400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:29114400-29114800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:29115000-29115200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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