Variant report

Variant	nsv883540
Chromosome Location	chr6:29772395-29784317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:189)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:189 , 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	BCL3	chr6:29777029-29777264	GM12878	blood:	n/a	n/a
5	BCLAF1	chr6:29782595-29783110	K562	blood:	n/a	n/a
6	BCLAF1	chr6:29782754-29783154	K562	blood:	n/a	n/a
7	BHLHE40	chr6:29781535-29781900	K562	blood:	n/a	n/a
8	CBX3	chr6:29781583-29782060	K562	blood:	n/a	n/a
9	CBX3	chr6:29782203-29783230	K562	blood:	n/a	n/a
10	CEBPB	chr6:29781679-29781963	Hela-S3	cervix:	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	chr6:29783292-29783433	HepG2	liver:	n/a	chr6:29783363-29783374
14	CEBPB	chr6:29781665-29781851	K562	blood:	n/a	n/a
15	CEBPB	chr6:29776842-29777066	HepG2	liver:	n/a	chr6:29776932-29776943
16	CEBPB	chr6:29781662-29781896	HepG2	liver:	n/a	n/a
17	CHD2	chr6:29781639-29781809	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr6:29781264-29781265	HepG2	liver:	n/a	n/a
19	CTCF	chr6:29781760-29781910	A549	lung:	n/a	n/a
20	CTCF	chr6:29778040-29778190	GM12867	blood:	n/a	n/a
21	CTCF	chr6:29775436-29775492	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr6:29781611-29781815	K562	blood:	n/a	n/a
23	CTCF	chr6:29781693-29781754	MCF-7	breast:	n/a	n/a
24	CTCF	chr6:29781600-29781750	HCT-116	colon:	n/a	n/a
25	CTCF	chr6:29773000-29773150	GM12872	blood:	n/a	n/a
26	CTCF	chr6:29781714-29781736	MCF-7	breast:	n/a	n/a
27	CTCF	chr6:29781700-29781850	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr6:29781660-29781810	HMF	breast:	n/a	n/a
29	CTCF	chr6:29781672-29781800	NHEK	skin:	n/a	n/a
30	CTCF	chr6:29781560-29781710	HMEC	breast:	n/a	n/a
31	CTCF	chr6:29781600-29781750	RPTEC	kidney:	n/a	n/a
32	CTCF	chr6:29781660-29781810	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr6:29781680-29781830	HCT-116	colon:	n/a	n/a
34	CTCF	chr6:29781702-29781796	Gliobla	brain:	n/a	n/a
35	CTCF	chr6:29781660-29781810	HEK293	kidney:	n/a	n/a
36	CTCF	chr6:29782600-29782750	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr6:29781660-29781810	HepG2	liver:	n/a	n/a
38	CTCF	chr6:29781647-29781821	MCF-7	breast:	n/a	n/a
39	CTCF	chr6:29781668-29781828	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr6:29773038-29773116	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr6:29773040-29773190	GM12871	blood:	n/a	n/a
42	CTCF	chr6:29772960-29773110	GM06990	blood:	n/a	n/a
43	CTCF	chr6:29781680-29781830	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr6:29773037-29773093	K562	blood:	n/a	n/a
45	CTCF	chr6:29781608-29781993	K562	blood:	n/a	n/a
46	CTCF	chr6:29778298-29778381	LNCaP	prostate:	n/a	n/a
47	CTCF	chr6:29781685-29781802	K562	blood:	n/a	n/a
48	CTCF	chr6:29773032-29773070	Gliobla	brain:	n/a	n/a
49	CTCF	chr6:29772908-29773160	K562	blood:	n/a	n/a
50	CTCF	chr6:29772912-29773116	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29776748..29779241-chr6:29782006..29784779,2	K562	blood:
2	chr6:29762168..29764765-chr6:29782319..29784097,2	K562	blood:
3	chr6:29712194..29714049-chr6:29781280..29783856,2	K562	blood:
4	chr6:29721629..29723965-chr6:29782354..29784325,2	K562	blood:
5	chr6:29777005..29779925-chr6:29872223..29874641,3	K562	blood:
6	chr6:29763208..29764709-chr6:29776682..29778485,2	MCF-7	breast:
7	chr6:29780662..29785245-chr6:29788028..29791562,7	K562	blood:
8	chr6:29779063..29781436-chr6:29784050..29786398,2	K562	blood:
9	chr6:29776495..29778930-chr6:29785334..29787905,2	MCF-7	breast:
10	chr6:29778199..29781037-chr6:29781139..29783059,2	K562	blood:
11	chr6:29755654..29758226-chr6:29780556..29783054,2	MCF-7	breast:
12	chr6:29691597..29693774-chr6:29780569..29783300,2	MCF-7	breast:
13	chr6:29776748..29779241-chr6:29782006..29784779,2	K562	blood:

No data

Variant related genes	Relation type
RPL7AP7	TF binding region
MICG	TF binding region
ENSG00000237042	chromatin interactions
ENSG00000204642	chromatin interactions
ENSG00000225864	chromatin interactions
ENSG00000233677	chromatin interactions

Extended variants
information (count: 663 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1632988	chr6:29772395-29772396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371447512	chr6:29772424-29772425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115907420	chr6:29772456-29772457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551112499	chr6:29772458-29772459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72843818	chr6:29772484-29772485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs115006024	chr6:29772486-29772487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549959934	chr6:29772512-29772513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1632987	chr6:29772549-29772550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs373071954	chr6:29772609-29772610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191418793	chr6:29772622-29772623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377064146	chr6:29772641-29772642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1632986	chr6:29772670-29772671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1632985	chr6:29772674-29772675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184458824	chr6:29772685-29772686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144403087	chr6:29772808-29772809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557898801	chr6:29772855-29772856	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs373314731	chr6:29772891-29772892	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376765683	chr6:29772919-29772920	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs376249527	chr6:29772921-29772922	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs190546416	chr6:29772930-29772931	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs9500850	chr6:29772946-29772947	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563777171	chr6:29772951-29772952	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs117822361	chr6:29773002-29773003	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs542859954	chr6:29773011-29773012	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs142046810	chr6:29773052-29773053	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs370693340	chr6:29773056-29773057	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs559658430	chr6:29773095-29773096	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs9500991	chr6:29773101-29773102	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs530340788	chr6:29773104-29773105	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs376492752	chr6:29773105-29773106	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs4639382	chr6:29773145-29773146	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs2394173	chr6:29773158-29773159	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs9295815	chr6:29773190-29773191	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs200785777	chr6:29773202-29773203	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs201921443	chr6:29773216-29773217	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs182224684	chr6:29773231-29773232	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs550219298	chr6:29773239-29773240	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs116673334	chr6:29773261-29773262	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs114686822	chr6:29773271-29773272	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201946265	chr6:29773292-29773293	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs370306178	chr6:29773296-29773297	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs375960329	chr6:29773311-29773312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11751178	chr6:29773317-29773318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs17178812	chr6:29773318-29773319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs11751215	chr6:29773344-29773345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1632984	chr6:29773392-29773393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs112384272	chr6:29773412-29773413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367682663	chr6:29773448-29773449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2523412	chr6:29773459-29773460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs11751201	chr6:29773470-29773471	Weak transcription	n/a	n/a	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:39 , 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	chr6:29775800-29776000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:29776000-29777800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:29777400-29777800	Enhancers	HMEC	breast
5	chr6:29777800-29778800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:29777800-29779600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr6:29777800-29780600	Weak transcription	HMEC	breast
8	chr6:29779400-29780000	Enhancers	K562	blood
9	chr6:29779400-29783800	Weak transcription	Right Atrium	heart
10	chr6:29780000-29781000	Weak transcription	K562	blood
11	chr6:29780600-29782000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:29780600-29782600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:29780600-29782800	Enhancers	HMEC	breast
14	chr6:29780800-29781000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:29780800-29782000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:29780800-29782000	Enhancers	Placenta	Placenta
17	chr6:29780800-29782800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:29781000-29783600	Enhancers	K562	blood
19	chr6:29781200-29782200	Enhancers	Hela-S3	cervix
20	chr6:29781600-29781800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:29781600-29782000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr6:29781600-29782000	Enhancers	NHEK	skin
23	chr6:29781600-29782200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr6:29781800-29782200	Enhancers	A549	lung
25	chr6:29781800-29782200	Bivalent Enhancer	HepG2	liver
26	chr6:29782000-29782400	Weak transcription	Placenta	Placenta
27	chr6:29782000-29783400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:29782000-29783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:29782000-29783800	Weak transcription	NHEK	skin
30	chr6:29782600-29782800	Enhancers	Placenta	Placenta
31	chr6:29782600-29783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:29782800-29784000	Weak transcription	HMEC	breast
33	chr6:29783000-29784200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:29783400-29784000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:29783400-29784000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:29783600-29784400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:29783800-29784200	Enhancers	NHEK	skin
38	chr6:29784000-29784600	Enhancers	HMEC	breast
39	chr6:29784000-29789800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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