Variant report

Variant	nsv521325
Chromosome Location	chr6:117772143-117776185
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	CEBPB	chr6:117772621-117773161	A549	lung:	n/a	chr6:117773023-117773036
2	CEBPB	chr6:117772744-117773150	A549	lung:	n/a	chr6:117773023-117773036
3	CEBPB	chr6:117772407-117773228	Hela-S3	cervix:	n/a	chr6:117773023-117773036
4	CEBPB	chr6:117772728-117773219	IMR90	lung:	n/a	chr6:117773023-117773036
5	CEBPB	chr6:117772903-117773092	H1-hESC	embryonic stem cell:	n/a	chr6:117773023-117773036
6	CEBPB	chr6:117772802-117773111	HepG2	liver:	n/a	chr6:117773023-117773036
7	CEBPB	chr6:117772813-117773145	A549	lung:	n/a	chr6:117773023-117773036
8	CTCF	chr6:117770773-117772235	A549	lung:	n/a	chr6:117771194-117771207 chr6:117771193-117771214 chr6:117771191-117771209
9	EBF1	chr6:117772651-117773025	GM12878	blood:	n/a	n/a
10	EP300	chr6:117772214-117773032	Hela-S3	cervix:	n/a	n/a
11	FOS	chr6:117772901-117773256	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr6:117772821-117773032	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr6:117772763-117773128	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr6:117772811-117773261	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA3	chr6:117772106-117772796	SK-N-SH	brain:	n/a	n/a
16	MYC	chr6:117772486-117773088	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr6:117772263-117773298	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr6:117772740-117772799	NB4	blood:	n/a	n/a
19	POLR2A	chr6:117772917-117773167	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr6:117772382-117772763	MCF10A-Er-Src	breast:	n/a	n/a
21	SMC3	chr6:117770447-117772551	SK-N-SH	brain:	n/a	chr6:117771193-117771207
22	STAT3	chr6:117772727-117773036	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr6:117772909-117773211	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr6:117772381-117772450	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr6:117772747-117773059	MCF10A-Er-Src	breast:	n/a	n/a
26	TCF7L2	chr6:117772248-117772466	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:117771548..117773609-chr6:117923390..117926576,3	MCF-7	breast:
2	chr6:117770749..117772894-chr6:117776131..117779013,2	K562	blood:
3	chr6:117774730..117776749-chr6:117778089..117780267,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ROS1-1	chr6:117772293-117772481	ENSG00000226181.1
2	lnc-ROS1-1	chr6:117774570-117774688	ENSG00000226181.1
3	lnc-DCBLD1-1	chr6:117774997-117775060	NONHSAT114676
4	lnc-DCBLD1-1	chr6:117774980-117775060	NONHSAT114674

Variant related genes	Relation type
ENSG00000226181	TF binding region
DCBLD1	TF binding region
ENSG00000047932	chromatin interactions
ENSG00000207461	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6932793	chr6:117772143-117772144	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534175476	chr6:117772265-117772266	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs188315278	chr6:117772327-117772328	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs573948961	chr6:117772331-117772332	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs544538531	chr6:117772337-117772338	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs1108486	chr6:117772381-117772382	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs372460982	chr6:117772395-117772396	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs140594344	chr6:117772399-117772400	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs577777428	chr6:117772490-117772491	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs544915518	chr6:117772553-117772554	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs538385145	chr6:117772557-117772558	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs560186496	chr6:117772595-117772596	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs9489195	chr6:117772629-117772630	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs35154382	chr6:117772704-117772705	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs542198104	chr6:117772727-117772728	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs560564141	chr6:117772773-117772774	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs529499217	chr6:117772781-117772782	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs78833444	chr6:117772852-117772853	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs531971615	chr6:117772854-117772855	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs73552925	chr6:117773028-117773029	Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551715850	chr6:117773040-117773041	Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs373892550	chr6:117773072-117773073	Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs566940850	chr6:117773089-117773090	Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs6939463	chr6:117773090-117773091	Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549368897	chr6:117773102-117773103	Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs567665942	chr6:117773110-117773111	Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs551900177	chr6:117773113-117773114	Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs556413238	chr6:117773117-117773118	Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs184576871	chr6:117773154-117773155	Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs6939501	chr6:117773164-117773165	Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs376276150	chr6:117773167-117773168	Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs75236493	chr6:117773217-117773218	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375174422	chr6:117773237-117773238	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs367741710	chr6:117773332-117773333	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572070720	chr6:117773341-117773342	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542319930	chr6:117773449-117773450	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560509338	chr6:117773504-117773505	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs189437269	chr6:117773507-117773508	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs6940229	chr6:117773552-117773553	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs182090724	chr6:117773582-117773583	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183714478	chr6:117773638-117773639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189312243	chr6:117773653-117773654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560543842	chr6:117773681-117773682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180972483	chr6:117773687-117773688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549506956	chr6:117773700-117773701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567800653	chr6:117773701-117773702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538240138	chr6:117773727-117773728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547654418	chr6:117773881-117773882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555944764	chr6:117773911-117773912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370770575	chr6:117773925-117773926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	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
Autism	22495311	CNVD
Gastric cancer	17908304	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Epilepsy	22083797	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117763000-117772200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:117768000-117773400	Enhancers	NHEK	skin
3	chr6:117768200-117773200	Enhancers	Osteobl	bone
4	chr6:117768200-117773600	Enhancers	HMEC	breast
5	chr6:117769000-117773200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:117769200-117773200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:117769600-117773400	Enhancers	HSMM	muscle
8	chr6:117769600-117779400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:117769800-117773600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:117769800-117773600	Enhancers	HSMMtube	muscle
11	chr6:117770000-117773000	Enhancers	NH-A	brain
12	chr6:117770000-117773600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:117770000-117778000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:117770600-117773400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:117770800-117773400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:117771000-117772200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr6:117771000-117772200	Weak transcription	Stomach Mucosa	stomach
18	chr6:117771000-117772800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr6:117771000-117773200	Enhancers	Duodenum Mucosa	Duodenum
20	chr6:117771000-117773600	Enhancers	Fetal Intestine Large	intestine
21	chr6:117771200-117772600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:117771200-117773000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:117771200-117773000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:117771200-117773000	Weak transcription	Fetal Stomach	stomach
25	chr6:117771200-117773600	Enhancers	A549	lung
26	chr6:117771200-117773600	Enhancers	Hela-S3	cervix
27	chr6:117771400-117773200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:117771600-117772200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:117771600-117772400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:117771600-117772400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:117771600-117772600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:117771800-117773600	Enhancers	Fetal Intestine Small	intestine
33	chr6:117772000-117772600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:117772000-117773200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:117772000-117773200	Weak transcription	NHLF	lung
36	chr6:117772200-117772400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:117772200-117772400	Enhancers	Small Intestine	intestine
38	chr6:117772200-117773000	Enhancers	Stomach Mucosa	stomach
39	chr6:117772200-117773200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:117772400-117772600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:117772400-117772800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr6:117772400-117773200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr6:117772400-117773400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:117772600-117772800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:117772600-117773000	Weak transcription	Small Intestine	intestine
46	chr6:117772600-117773200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:117772600-117773200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:117772600-117773200	Enhancers	Adipose Nuclei	Adipose
49	chr6:117772600-117773600	Enhancers	HepG2	liver
50	chr6:117772600-117775400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links