Variant report

Variant	nsv883478
Chromosome Location	chr6:23615399-23659465
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:170)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:170 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:23631691-23632078	IMR90	lung:	n/a	chr6:23631837-23631848
2	CEBPB	chr6:23655005-23655325	HepG2	liver:	n/a	n/a
3	CEBPB	chr6:23629916-23630298	MCF-7	breast:	n/a	n/a
4	CEBPB	chr6:23631668-23632499	HepG2	liver:	n/a	chr6:23631837-23631848
5	CEBPB	chr6:23629919-23630264	HepG2	liver:	n/a	n/a
6	CEBPB	chr6:23631696-23632020	A549	lung:	n/a	chr6:23631837-23631848
7	CEBPB	chr6:23655038-23655272	A549	lung:	n/a	n/a
8	CTCF	chr6:23659460-23659610	MCF-7	breast:	n/a	n/a
9	CTCF	chr6:23637680-23637830	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr6:23637693-23637799	NHEK	skin:	n/a	n/a
11	CTCF	chr6:23637700-23637850	HMF	breast:	n/a	n/a
12	CTCF	chr6:23659418-23659722	Medullo	brain:	n/a	n/a
13	CTCF	chr6:23659411-23659692	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr6:23637660-23637810	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr6:23659382-23659766	GM12878	blood:	n/a	n/a
16	CTCF	chr6:23637640-23637790	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr6:23659444-23659716	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:23659460-23659610	K562	blood:	n/a	n/a
19	CTCF	chr6:23659460-23659610	HEK293	kidney:	n/a	n/a
20	CTCF	chr6:23659366-23659807	MCF-7	breast:	n/a	n/a
21	CTCF	chr6:23637640-23637790	SAEC	small airway:	n/a	n/a
22	CTCF	chr6:23659424-23659665	HepG2	liver:	n/a	n/a
23	CTCF	chr6:23647560-23647710	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr6:23631360-23631510	HRE	kidney:	n/a	chr6:23631367-23631385
25	CTCF	chr6:23637660-23637810	SAEC	small airway:	n/a	n/a
26	CTCF	chr6:23659463-23659703	MCF-7	breast:	n/a	n/a
27	CTCF	chr6:23655680-23655830	GM12873	blood:	n/a	n/a
28	CTCF	chr6:23659212-23659952	A549	lung:	n/a	n/a
29	CTCF	chr6:23637640-23637790	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr6:23637768-23637780	MCF-7	breast:	n/a	n/a
31	CTCF	chr6:23637600-23637750	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr6:23637680-23637830	RPTEC	kidney:	n/a	n/a
33	CTCF	chr6:23659460-23659610	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr6:23637640-23637790	NHEK	skin:	n/a	n/a
35	CTCF	chr6:23637660-23637810	RPTEC	kidney:	n/a	n/a
36	CTCF	chr6:23637660-23637810	NHEK	skin:	n/a	n/a
37	CTCF	chr6:23659440-23659590	RPTEC	kidney:	n/a	n/a
38	CTCF	chr6:23659429-23659707	HepG2	liver:	n/a	n/a
39	CTCF	chr6:23659279-23659868	MCF-7	breast:	n/a	n/a
40	CTCF	chr6:23659459-23659638	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr6:23659460-23659610	GM12865	blood:	n/a	n/a
42	CTCF	chr6:23638340-23638490	Caco-2	colon:	n/a	n/a
43	CTCF	chr6:23659380-23659530	A549	lung:	n/a	n/a
44	CTCF	chr6:23659162-23660037	SK-N-SH	brain:	n/a	n/a
45	CTCF	chr6:23637747-23637767	MCF-7	breast:	n/a	n/a
46	CTCF	chr6:23637700-23637850	HEK293	kidney:	n/a	n/a
47	CTCF	chr6:23623654-23623688	Lung_OC	lung:	n/a	n/a
48	CTCF	chr6:23659349-23659681	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr6:23648180-23648330	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr6:23659420-23659570	NHDF-neo	bronchial:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:23649711..23652684-chr6:23658140..23660824,2	K562	blood:
2	chr6:23547739..23548783-chr6:23658962..23660028,7	MCF-7	breast:
3	chr6:23652837..23654514-chr6:23729115..23730862,2	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: 1630 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1630 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9466869	chr6:23615399-23615400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186717035	chr6:23615423-23615424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12205208	chr6:23615428-23615429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77123210	chr6:23615490-23615491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150948461	chr6:23615496-23615497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557047972	chr6:23615509-23615510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575194826	chr6:23615511-23615512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527690966	chr6:23615518-23615519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561017347	chr6:23615531-23615532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs489884	chr6:23615540-23615541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376830169	chr6:23615559-23615560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540175753	chr6:23615608-23615609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547793374	chr6:23615676-23615677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140788043	chr6:23615719-23615720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs491808	chr6:23615769-23615770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550648361	chr6:23615791-23615792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552253507	chr6:23615794-23615795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562618240	chr6:23615809-23615810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147773605	chr6:23615824-23615825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs497731	chr6:23615825-23615826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567842941	chr6:23615856-23615857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73383668	chr6:23615886-23615887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192443622	chr6:23615904-23615905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571772723	chr6:23615962-23615963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75883108	chr6:23615974-23615975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183167615	chr6:23615979-23615980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371851569	chr6:23615984-23615985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186733951	chr6:23616008-23616009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76403458	chr6:23616016-23616017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs494438	chr6:23616029-23616030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369872976	chr6:23616034-23616035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554919169	chr6:23616040-23616041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573168328	chr6:23616070-23616071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569046147	chr6:23616093-23616094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112986432	chr6:23616106-23616107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565033837	chr6:23616133-23616134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557660805	chr6:23616135-23616136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577108067	chr6:23616206-23616207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544458551	chr6:23616248-23616249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9379524	chr6:23616259-23616260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529843316	chr6:23616287-23616288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141176683	chr6:23616293-23616294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35926067	chr6:23616299-23616300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115305844	chr6:23616332-23616333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191153154	chr6:23616341-23616342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146898387	chr6:23616387-23616388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547227417	chr6:23616429-23616430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566388103	chr6:23616470-23616471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571656975	chr6:23616477-23616478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182565839	chr6:23616482-23616483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Cancer	20164920	CNVD
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:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23610000-23618600	Weak transcription	Fetal Kidney	kidney
2	chr6:23618600-23619000	Enhancers	Fetal Kidney	kidney
3	chr6:23618600-23619600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:23618800-23619600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:23619000-23621000	Weak transcription	Fetal Kidney	kidney
6	chr6:23619600-23620800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:23619600-23620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:23620000-23620400	Active TSS	HSMM	muscle
9	chr6:23620000-23620600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr6:23620200-23620600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:23620600-23621000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:23620600-23622000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:23620800-23621000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:23620800-23621000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:23620800-23621200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:23620800-23621400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:23620800-23622000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:23620800-23622000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:23620800-23622200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:23621000-23621200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:23621000-23621200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:23621000-23621200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:23621000-23621200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:23621000-23621400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:23621000-23621600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:23621000-23621600	Enhancers	Brain Hippocampus Middle	brain
27	chr6:23621000-23621600	Enhancers	Fetal Kidney	kidney
28	chr6:23621000-23621600	Enhancers	Fetal Muscle Leg	muscle
29	chr6:23621000-23621800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:23621000-23621800	Enhancers	Fetal Brain Male	brain
31	chr6:23621000-23622000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:23621000-23622000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:23621000-23622200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:23621200-23621400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:23621200-23621600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr6:23621200-23621600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:23621200-23621600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:23621200-23621600	Enhancers	Brain Substantia Nigra	brain
39	chr6:23621200-23621800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:23621400-23621600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr6:23621400-23621800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:23621400-23621800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:23621400-23621800	Enhancers	Fetal Stomach	stomach
44	chr6:23621400-23622000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:23621600-23621800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr6:23621800-23622000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr6:23621800-23622000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:23621800-23622000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:23622000-23622400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:23622200-23622800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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