Variant report

Variant	nsv462656
Chromosome Location	chr6:23629281-23721032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:377)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:23706487-23706607	K562	blood:	n/a	n/a
2	BCL3	chr6:23688869-23689193	GM12878	blood:	n/a	n/a
3	BCL3	chr6:23688960-23689199	GM12878	blood:	n/a	n/a
4	CEBPB	chr6:23629916-23630298	MCF-7	breast:	n/a	n/a
5	CEBPB	chr6:23660935-23661120	HepG2	liver:	n/a	chr6:23661089-23661100 chr6:23661088-23661105
6	CEBPB	chr6:23631696-23632020	A549	lung:	n/a	chr6:23631837-23631848
7	CEBPB	chr6:23629919-23630264	HepG2	liver:	n/a	n/a
8	CEBPB	chr6:23631691-23632078	IMR90	lung:	n/a	chr6:23631837-23631848
9	CEBPB	chr6:23682957-23683276	HepG2	liver:	n/a	chr6:23683105-23683116 chr6:23683192-23683205 chr6:23683104-23683115
10	CEBPB	chr6:23655038-23655272	A549	lung:	n/a	n/a
11	CEBPB	chr6:23692420-23692883	MCF-7	breast:	n/a	n/a
12	CEBPB	chr6:23682958-23683228	A549	lung:	n/a	chr6:23683105-23683116 chr6:23683192-23683205 chr6:23683104-23683115
13	CEBPB	chr6:23655005-23655325	HepG2	liver:	n/a	n/a
14	CEBPB	chr6:23631668-23632499	HepG2	liver:	n/a	chr6:23631837-23631848
15	CEBPB	chr6:23692261-23692982	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:23637640-23637790	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr6:23637660-23637810	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr6:23659540-23659690	A549	lung:	n/a	n/a
19	CTCF	chr6:23661650-23661741	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr6:23659480-23659630	HVMF	connective:	n/a	n/a
21	CTCF	chr6:23637693-23637799	NHEK	skin:	n/a	n/a
22	CTCF	chr6:23659440-23659590	RPTEC	kidney:	n/a	n/a
23	CTCF	chr6:23637747-23637767	MCF-7	breast:	n/a	n/a
24	CTCF	chr6:23659470-23659712	LNCaP	prostate:	n/a	n/a
25	CTCF	chr6:23659463-23659703	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:23659349-23659681	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr6:23659580-23659730	HAc	cerebellar:	n/a	n/a
28	CTCF	chr6:23659460-23659610	MCF-7	breast:	n/a	n/a
29	CTCF	chr6:23699027-23699072	GM13976	blood:	n/a	n/a
30	CTCF	chr6:23659411-23659692	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr6:23659500-23659650	RPTEC	kidney:	n/a	n/a
32	CTCF	chr6:23659212-23659952	A549	lung:	n/a	n/a
33	CTCF	chr6:23659520-23659665	ProgFib	skin:	n/a	n/a
34	CTCF	chr6:23659366-23659807	MCF-7	breast:	n/a	n/a
35	CTCF	chr6:23659472-23659705	LNCaP	prostate:	n/a	n/a
36	CTCF	chr6:23659520-23659670	HCM	heart:	n/a	n/a
37	CTCF	chr6:23659481-23659685	MCF-7	breast:	n/a	n/a
38	CTCF	chr6:23631360-23631510	HRE	kidney:	n/a	chr6:23631367-23631385
39	CTCF	chr6:23659520-23659670	HCFaa	heart:	n/a	n/a
40	CTCF	chr6:23637768-23637780	MCF-7	breast:	n/a	n/a
41	CTCF	chr6:23659444-23659716	MCF-7	breast:	n/a	n/a
42	CTCF	chr6:23637640-23637790	NHEK	skin:	n/a	n/a
43	CTCF	chr6:23659500-23659650	GM12872	blood:	n/a	n/a
44	CTCF	chr6:23659520-23659670	AG09319	gingival:	n/a	n/a
45	CTCF	chr6:23637700-23637850	HMF	breast:	n/a	n/a
46	CTCF	chr6:23659459-23659638	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr6:23637640-23637790	SAEC	small airway:	n/a	n/a
48	CTCF	chr6:23659480-23659642	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr6:23659500-23659650	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr6:23659500-23659650	NHDF-neo	bronchial:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:23714418..23716432-chr6:23721947..23724454,2	K562	blood:
2	chr6:23652837..23654514-chr6:23729115..23730862,2	MCF-7	breast:
3	chr6:23547739..23548783-chr6:23658962..23660028,7	MCF-7	breast:
4	chr6:23649711..23652684-chr6:23658140..23660824,2	K562	blood:
5	chr6:23673981..23676469-chr6:23679959..23681760,2	K562	blood:
6	chr6:23673981..23676469-chr6:23679959..23681760,2	K562	blood:
7	chr6:23720899..23723195-chr6:23747415..23749534,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRSN1-5	chr6:23649724-23650002	NONHSAT108101

No data

Variant related genes	Relation type
ENSG00000219453	TF binding region
ENSG00000219453	chromatin interactions

Extended variants
information (count: 2747 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2747 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115549436	chr6:23630028-23630029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537171979	chr6:23630042-23630043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2180936	chr6:23630049-23630050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184774430	chr6:23630080-23630081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370307452	chr6:23630091-23630092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553039892	chr6:23630092-23630093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370821695	chr6:23630093-23630094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544911299	chr6:23630101-23630102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563512376	chr6:23630103-23630104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146225699	chr6:23630125-23630126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77470907	chr6:23630141-23630142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560827841	chr6:23630143-23630144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114740203	chr6:23630154-23630155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548104527	chr6:23630163-23630164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs137881144	chr6:23630200-23630201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188327077	chr6:23630207-23630208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551656345	chr6:23630213-23630214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570236295	chr6:23630235-23630236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373665533	chr6:23630236-23630237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs515461	chr6:23630249-23630250	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549109806	chr6:23630250-23630251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4712770	chr6:23630263-23630264	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113901590	chr6:23630266-23630267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180686931	chr6:23630275-23630276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13436982	chr6:23630314-23630315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577825262	chr6:23630349-23630350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116579614	chr6:23630350-23630351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551425574	chr6:23630352-23630353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183773236	chr6:23630359-23630360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575519001	chr6:23630369-23630370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189764624	chr6:23630370-23630371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113926415	chr6:23630377-23630378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550368317	chr6:23630390-23630391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35296432	chr6:23630422-23630423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561009962	chr6:23630444-23630445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572852367	chr6:23630555-23630556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539879723	chr6:23630611-23630612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142380561	chr6:23630623-23630624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9358642	chr6:23630633-23630634	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs566931743	chr6:23630649-23630650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552063319	chr6:23630721-23630722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563533842	chr6:23630751-23630752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs151203711	chr6:23630836-23630837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531057516	chr6:23630843-23630844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs67012162	chr6:23630844-23630845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397940912	chr6:23630845-23630846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181247393	chr6:23630848-23630849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567455902	chr6:23630887-23630888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146384107	chr6:23630906-23630907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551480996	chr6:23630907-23630908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	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
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Tetralogy of Fallot	22912587	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23630000-23630200	Enhancers	Brain Germinal Matrix	brain
2	chr6:23630000-23630400	Enhancers	Adipose Nuclei	Adipose
3	chr6:23630200-23633000	Enhancers	Fetal Brain Male	brain
4	chr6:23630200-23634000	Weak transcription	Brain Germinal Matrix	brain
5	chr6:23630600-23631800	Enhancers	Fetal Kidney	kidney
6	chr6:23631800-23632800	Weak transcription	Fetal Kidney	kidney
7	chr6:23632400-23634600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:23632600-23635400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:23632800-23633200	Enhancers	Fetal Kidney	kidney
10	chr6:23633000-23634200	Weak transcription	Fetal Brain Male	brain
11	chr6:23633000-23634400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr6:23633800-23634000	Enhancers	Fetal Brain Female	brain
13	chr6:23633800-23634200	Enhancers	Brain Substantia Nigra	brain
14	chr6:23633800-23634600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:23634000-23634200	Enhancers	Brain Anterior Caudate	brain
16	chr6:23634000-23634200	Enhancers	Brain Hippocampus Middle	brain
17	chr6:23634000-23634800	Enhancers	Brain Cingulate Gyrus	brain
18	chr6:23634000-23635000	Enhancers	Brain Germinal Matrix	brain
19	chr6:23634000-23635200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:23634000-23635200	Enhancers	Brain Angular Gyrus	brain
21	chr6:23634200-23634400	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr6:23634200-23635000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:23634200-23635000	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr6:23634200-23635000	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr6:23634200-23635000	Enhancers	Fetal Brain Male	brain
26	chr6:23634400-23634600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:23634400-23634600	Enhancers	Spleen	Spleen
28	chr6:23634400-23635000	Enhancers	Brain Substantia Nigra	brain
29	chr6:23634600-23634800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:23634600-23634800	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr6:23634600-23634800	Enhancers	Fetal Brain Female	brain
32	chr6:23634800-23635000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:23635000-23635200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:23635200-23636200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:23635200-23639600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:23637200-23638000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:23637400-23637800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:23639600-23640400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:23647400-23647600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:23647400-23647800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr6:23647400-23648000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:23647400-23648000	Enhancers	Brain Substantia Nigra	brain
43	chr6:23647400-23652400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:23647600-23647800	Enhancers	Brain Cingulate Gyrus	brain
45	chr6:23647800-23650400	Weak transcription	Brain Anterior Caudate	brain
46	chr6:23647800-23650600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:23648000-23648400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:23648000-23649800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:23648000-23649800	Weak transcription	Brain Substantia Nigra	brain
50	chr6:23648400-23653000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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