Variant report

Variant	esv3352548
Chromosome Location	chr6:29777973-29783971
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:159)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:159 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:29779354-29779381	K562	blood:	n/a	n/a
2	ATF3	chr6:29781685-29781913	K562	blood:	n/a	n/a
3	ATF3	chr6:29781580-29781947	K562	blood:	n/a	n/a
4	BCLAF1	chr6:29782754-29783154	K562	blood:	n/a	n/a
5	BCLAF1	chr6:29782595-29783110	K562	blood:	n/a	n/a
6	BHLHE40	chr6:29781535-29781900	K562	blood:	n/a	n/a
7	CBX3	chr6:29781583-29782060	K562	blood:	n/a	n/a
8	CBX3	chr6:29782203-29783230	K562	blood:	n/a	n/a
9	CEBPB	chr6:29783292-29783433	HepG2	liver:	n/a	chr6:29783363-29783374
10	CEBPB	chr6:29781665-29781851	K562	blood:	n/a	n/a
11	CEBPB	chr6:29782920-29783531	K562	blood:	n/a	chr6:29783363-29783374
12	CEBPB	chr6:29783180-29783536	HepG2	liver:	n/a	chr6:29783363-29783374
13	CEBPB	chr6:29781662-29781896	HepG2	liver:	n/a	n/a
14	CEBPB	chr6:29781679-29781963	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr6:29781264-29781265	HepG2	liver:	n/a	n/a
16	CHD2	chr6:29781639-29781809	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr6:29781682-29781799	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr6:29782624-29782777	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr6:29781647-29781821	MCF-7	breast:	n/a	n/a
20	CTCF	chr6:29781660-29781810	HMF	breast:	n/a	n/a
21	CTCF	chr6:29778040-29778190	GM12867	blood:	n/a	n/a
22	CTCF	chr6:29781680-29781830	HCT-116	colon:	n/a	n/a
23	CTCF	chr6:29781640-29781790	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr6:29781693-29781754	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:29781672-29781800	NHEK	skin:	n/a	n/a
26	CTCF	chr6:29781685-29781802	K562	blood:	n/a	n/a
27	CTCF	chr6:29781702-29781796	Gliobla	brain:	n/a	n/a
28	CTCF	chr6:29781681-29781786	Fibrobl	skin:	n/a	n/a
29	CTCF	chr6:29781680-29781830	HRE	kidney:	n/a	n/a
30	CTCF	chr6:29782600-29782750	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr6:29781660-29781810	HEK293	kidney:	n/a	n/a
32	CTCF	chr6:29782580-29782730	HEK293	kidney:	n/a	n/a
33	CTCF	chr6:29781600-29781750	RPTEC	kidney:	n/a	n/a
34	CTCF	chr6:29781600-29781750	HCT-116	colon:	n/a	n/a
35	CTCF	chr6:29781660-29781810	HepG2	liver:	n/a	n/a
36	CTCF	chr6:29781714-29781736	MCF-7	breast:	n/a	n/a
37	CTCF	chr6:29778298-29778381	LNCaP	prostate:	n/a	n/a
38	CTCF	chr6:29781611-29781815	K562	blood:	n/a	n/a
39	CTCF	chr6:29781700-29781850	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr6:29781560-29781710	HMEC	breast:	n/a	n/a
41	CTCF	chr6:29781660-29781810	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr6:29781668-29781828	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr6:29781608-29781993	K562	blood:	n/a	n/a
44	CTCF	chr6:29781626-29781891	K562	blood:	n/a	n/a
45	CTCF	chr6:29781760-29781910	A549	lung:	n/a	n/a
46	CTCF	chr6:29781680-29781830	WERI-Rb-1	eye:	n/a	n/a
47	E2F4	chr6:29781690-29781817	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F6	chr6:29782684-29782854	K562	blood:	n/a	n/a
49	E2F6	chr6:29782230-29782513	K562	blood:	n/a	n/a
50	ELF1	chr6:29781657-29782065	HepG2	liver:	n/a	chr6:29781838-29781849 chr6:29781836-29781849

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29762168..29764765-chr6:29782319..29784097,2	K562	blood:
2	chr6:29721629..29723965-chr6:29782354..29784325,2	K562	blood:
3	chr6:29778199..29781037-chr6:29781139..29783059,2	K562	blood:
4	chr6:29777005..29779925-chr6:29872223..29874641,3	K562	blood:
5	chr6:29776495..29778930-chr6:29785334..29787905,2	MCF-7	breast:
6	chr6:29776748..29779241-chr6:29782006..29784779,2	K562	blood:
7	chr6:29763208..29764709-chr6:29776682..29778485,2	MCF-7	breast:
8	chr6:29776748..29779241-chr6:29782006..29784779,2	K562	blood:
9	chr6:29780662..29785245-chr6:29788028..29791562,7	K562	blood:
10	chr6:29755654..29758226-chr6:29780556..29783054,2	MCF-7	breast:
11	chr6:29691597..29693774-chr6:29780569..29783300,2	MCF-7	breast:
12	chr6:29712194..29714049-chr6:29781280..29783856,2	K562	blood:

No data

Variant related genes	Relation type
MICG	TF binding region
ENSG00000204642	chromatin interactions
ENSG00000225864	chromatin interactions
ENSG00000233677	chromatin interactions
ENSG00000237042	chromatin interactions

Extended variants
information (count: 366 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145626410	chr6:29777974-29777975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1736963	chr6:29777983-29777984	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs181681149	chr6:29777990-29777991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186069774	chr6:29778003-29778004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116206393	chr6:29778026-29778027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9357086	chr6:29778029-29778030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs138187969	chr6:29778032-29778033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188848676	chr6:29778045-29778046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181133673	chr6:29778080-29778081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2523408	chr6:29778109-29778110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs114334871	chr6:29778136-29778137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557236666	chr6:29778150-29778151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2517920	chr6:29778171-29778172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2517919	chr6:29778174-29778175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559609168	chr6:29778187-29778188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs114122861	chr6:29778191-29778192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1611172	chr6:29778213-29778214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545012287	chr6:29778229-29778230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1611173	chr6:29778240-29778241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs9468634	chr6:29778242-29778243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs9461562	chr6:29778271-29778272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs9468635	chr6:29778274-29778275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1611174	chr6:29778282-29778283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9468636	chr6:29778285-29778286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs376081210	chr6:29778307-29778308	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375854410	chr6:29778308-29778309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1611175	chr6:29778318-29778319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558219505	chr6:29778323-29778324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571763253	chr6:29778330-29778331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs1611176	chr6:29778333-29778334	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs200054246	chr6:29778336-29778337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs60299305	chr6:29778337-29778338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs367835376	chr6:29778344-29778345	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573714093	chr6:29778389-29778390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs367734738	chr6:29778407-29778408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs1610697	chr6:29778419-29778420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs185974535	chr6:29778420-29778421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190927345	chr6:29778462-29778463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370393735	chr6:29778483-29778484	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs9295820	chr6:29778501-29778502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183949502	chr6:29778503-29778504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564585210	chr6:29778507-29778508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186407529	chr6:29778509-29778510	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574896819	chr6:29778512-29778513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190807035	chr6:29778566-29778567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111312967	chr6:29778591-29778592	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1610662	chr6:29778607-29778608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs111968333	chr6:29778608-29778609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1736962	chr6:29778613-29778614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs9500995	chr6:29778617-29778618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29764800-29780600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:29777800-29778800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:29777800-29779600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr6:29777800-29780600	Weak transcription	HMEC	breast
5	chr6:29779400-29780000	Enhancers	K562	blood
6	chr6:29779400-29783800	Weak transcription	Right Atrium	heart
7	chr6:29780000-29781000	Weak transcription	K562	blood
8	chr6:29780600-29782000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:29780600-29782600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:29780600-29782800	Enhancers	HMEC	breast
11	chr6:29780800-29781000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:29780800-29782000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:29780800-29782000	Enhancers	Placenta	Placenta
14	chr6:29780800-29782800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:29781000-29783600	Enhancers	K562	blood
16	chr6:29781200-29782200	Enhancers	Hela-S3	cervix
17	chr6:29781600-29781800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:29781600-29782000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr6:29781600-29782000	Enhancers	NHEK	skin
20	chr6:29781600-29782200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:29781800-29782200	Enhancers	A549	lung
22	chr6:29781800-29782200	Bivalent Enhancer	HepG2	liver
23	chr6:29782000-29782400	Weak transcription	Placenta	Placenta
24	chr6:29782000-29783400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:29782000-29783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:29782000-29783800	Weak transcription	NHEK	skin
27	chr6:29782600-29782800	Enhancers	Placenta	Placenta
28	chr6:29782600-29783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:29782800-29784000	Weak transcription	HMEC	breast
30	chr6:29783000-29784200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:29783400-29784000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:29783400-29784000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:29783600-29784400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:29783800-29784200	Enhancers	NHEK	skin

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