Variant report

Variant	nsv1029561
Chromosome Location	chr6:58292194-58377586
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr6:58312840-58313086	GM12878	blood:	n/a	n/a
2	BATF	chr6:58312874-58313176	GM12878	blood:	n/a	chr6:58313100-58313108
3	BATF	chr6:58312874-58313181	GM12878	blood:	n/a	chr6:58313100-58313108
4	BATF	chr6:58326544-58326859	GM12878	blood:	n/a	n/a
5	BCL11A	chr6:58312939-58313153	GM12878	blood:	n/a	chr6:58313103-58313112
6	BCL11A	chr6:58312858-58313167	GM12878	blood:	n/a	chr6:58313103-58313112
7	BCLAF1	chr6:58312816-58313161	GM12878	blood:	n/a	chr6:58313103-58313112
8	BHLHE40	chr6:58312965-58313069	GM12878	blood:	n/a	n/a
9	CEBPB	chr6:58357831-58357857	HepG2	liver:	n/a	chr6:58357833-58357844 chr6:58357834-58357845
10	CEBPB	chr6:58334093-58334264	HepG2	liver:	n/a	chr6:58334239-58334250 chr6:58334239-58334248 chr6:58334237-58334250 chr6:58334239-58334248 chr6:58334239-58334248 chr6:58334237-58334250 chr6:58334239-58334250 chr6:58334239-58334248 chr6:58334237-58334250 chr6:58334237-58334248
11	CEBPB	chr6:58302675-58303028	K562	blood:	n/a	n/a
12	CEBPD	chr6:58300940-58301286	K562	blood:	n/a	n/a
13	CEBPD	chr6:58302568-58303070	K562	blood:	n/a	n/a
14	CHD2	chr6:58364578-58364789	K562	blood:	n/a	n/a
15	CHD2	chr6:58312973-58313106	GM12878	blood:	n/a	n/a
16	CTCF	chr6:58329753-58330165	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr6:58296920-58297070	K562	blood:	n/a	n/a
18	CTCF	chr6:58329860-58330010	HFF	foreskin:	n/a	n/a
19	CTCF	chr6:58314809-58314846	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr6:58296920-58297070	AG04450	lung:	n/a	n/a
21	CTCF	chr6:58296960-58297110	MCF-7	breast:	n/a	n/a
22	CTCF	chr6:58329780-58329930	GM12864	blood:	n/a	n/a
23	CTCF	chr6:58329780-58329930	HPF	lung:	n/a	n/a
24	CTCF	chr6:58329820-58329970	GM12874	blood:	n/a	n/a
25	CTCF	chr6:58372898-58373003	Lung_OC	lung:	n/a	n/a
26	CTCF	chr6:58296920-58297070	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr6:58296906-58297142	LNCaP	prostate:	n/a	n/a
28	CTCF	chr6:58374160-58374310	MCF-7	breast:	n/a	n/a
29	CTCF	chr6:58329820-58329970	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr6:58329820-58329970	GM12875	blood:	n/a	n/a
31	CTCF	chr6:58296960-58297110	GM12864	blood:	n/a	n/a
32	CTCF	chr6:58329815-58329986	NHEK	skin:	n/a	n/a
33	CTCF	chr6:58329840-58329990	GM12868	blood:	n/a	n/a
34	CTCF	chr6:58296942-58297124	ProgFib	skin:	n/a	n/a
35	CTCF	chr6:58329764-58330016	Gliobla	brain:	n/a	n/a
36	CTCF	chr6:58296940-58297090	MCF-7	breast:	n/a	n/a
37	CTCF	chr6:58329800-58329950	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr6:58296940-58297090	GM12872	blood:	n/a	n/a
39	CTCF	chr6:58296920-58297070	BJ	skin:	n/a	n/a
40	CTCF	chr6:58329812-58329943	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr6:58296991-58297063	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr6:58297000-58297057	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr6:58296920-58297070	HCFaa	heart:	n/a	n/a
44	CTCF	chr6:58329800-58329950	HCT-116	colon:	n/a	n/a
45	CTCF	chr6:58296880-58297030	GM12870	blood:	n/a	n/a
46	CTCF	chr6:58364337-58364421	GM20000	blood:	n/a	n/a
47	CTCF	chr6:58361622-58361770	Medullo	brain:	n/a	n/a
48	CTCF	chr6:58329840-58329990	RPTEC	kidney:	n/a	n/a
49	CTCF	chr6:58296907-58297108	MCF-7	breast:	n/a	n/a
50	CTCF	chr6:58374320-58374470	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:58293670..58295896-chr6:58296442..58300027,3	K562	blood:
2	chr6:58293670..58295896-chr6:58296442..58298545,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAG2-12	chr6:58294832-58295048	l_3195_chr6:58290605-58295048_testes
2	lnc-BAG2-6	chr6:58297873-58297934	ENSG00000225096
3	lnc-BAG2-6	chr6:58298372-58298496	ENSG00000225096

Variant related genes	Relation type
LINC00680	TF binding region
GAPDHP15	TF binding region
ENSG00000214563	chromatin interactions

Extended variants
information (count: 1167 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1167 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35134938	chr6:58292194-58292195	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571634357	chr6:58292245-58292246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538734253	chr6:58292281-58292282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547519172	chr6:58292307-58292308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186858827	chr6:58292319-58292320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533783341	chr6:58292351-58292352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555145099	chr6:58292388-58292389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573821573	chr6:58292542-58292543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538164225	chr6:58292556-58292557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370321943	chr6:58292566-58292567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577600872	chr6:58292679-58292680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544771699	chr6:58292681-58292682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560339387	chr6:58292809-58292810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372308307	chr6:58292823-58292824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144876100	chr6:58292858-58292859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543204321	chr6:58292864-58292865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9377702	chr6:58292881-58292882	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs367606722	chr6:58292898-58292899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531880951	chr6:58292902-58292903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371723328	chr6:58292906-58292907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544120524	chr6:58292957-58292958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190570679	chr6:58292968-58292969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532973103	chr6:58292978-58292979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532579811	chr6:58293045-58293046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144653720	chr6:58293047-58293048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565788759	chr6:58293124-58293125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530141625	chr6:58293143-58293144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543043089	chr6:58293149-58293150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548740462	chr6:58293156-58293157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567482680	chr6:58293159-58293160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537734531	chr6:58293184-58293185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556462119	chr6:58293245-58293246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562879837	chr6:58293262-58293263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368809656	chr6:58293283-58293284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182401730	chr6:58293289-58293290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546820210	chr6:58293350-58293351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576308704	chr6:58293358-58293359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545271282	chr6:58293363-58293364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187033093	chr6:58293605-58293606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9391385	chr6:58293664-58293665	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs527838875	chr6:58293666-58293667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542763856	chr6:58293685-58293686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554841129	chr6:58293686-58293687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576607772	chr6:58293713-58293714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115840866	chr6:58293766-58293767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376919107	chr6:58293774-58293775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370699184	chr6:58293775-58293776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191874708	chr6:58293799-58293800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540985360	chr6:58293820-58293821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547870120	chr6:58293831-58293832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58288200-58292200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:58288400-58301000	Weak transcription	Ovary	ovary
3	chr6:58291600-58292200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr6:58292200-58293000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:58292200-58293800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:58293000-58309600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:58301000-58301200	ZNF genes & repeats	Ovary	ovary
8	chr6:58301200-58301600	Active TSS	K562	blood
9	chr6:58301200-58310800	Weak transcription	Ovary	ovary
10	chr6:58301600-58302400	Weak transcription	K562	blood
11	chr6:58302200-58303200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:58302400-58302600	Enhancers	K562	blood
13	chr6:58302400-58303200	Enhancers	NHDF-Ad	bronchial
14	chr6:58302600-58303200	Enhancers	HSMM	muscle
15	chr6:58302600-58303400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:58303200-58309000	Weak transcription	HSMM	muscle
17	chr6:58307400-58307600	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:58307600-58307800	Enhancers	HSMMtube	muscle
19	chr6:58307600-58308400	Enhancers	Fetal Muscle Leg	muscle
20	chr6:58307800-58309600	Weak transcription	HSMMtube	muscle
21	chr6:58308400-58310400	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:58309000-58313000	Enhancers	HSMM	muscle
23	chr6:58309600-58310200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr6:58309600-58310800	Enhancers	NHDF-Ad	bronchial
25	chr6:58309600-58311000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:58309600-58311000	Enhancers	Fetal Heart	heart
27	chr6:58309600-58313000	Enhancers	HSMMtube	muscle
28	chr6:58309800-58310600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:58310200-58311800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:58310400-58311200	Enhancers	Fetal Muscle Leg	muscle
31	chr6:58310800-58311000	Enhancers	Ovary	ovary
32	chr6:58311000-58312000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:58311000-58312200	Weak transcription	Ovary	ovary
34	chr6:58311200-58312200	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:58311800-58312000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr6:58312000-58312200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:58312000-58313000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:58312000-58313000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr6:58312200-58312400	Enhancers	Fetal Muscle Leg	muscle
40	chr6:58312200-58312400	Enhancers	Ovary	ovary
41	chr6:58312200-58312600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:58312600-58313000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:58313000-58313200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr6:58313000-58314800	Weak transcription	HSMM	muscle
45	chr6:58313200-58317800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr6:58314800-58315200	Enhancers	HSMM	muscle
47	chr6:58315200-58316200	Weak transcription	HSMM	muscle
48	chr6:58316200-58317200	Enhancers	HSMM	muscle
49	chr6:58317800-58318200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr6:58318200-58318400	Enhancers	Pancreatic Islets	Pancreatic Islet

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