Variant report

Variant	nsv830587
Chromosome Location	chr6:12769661-12939875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:62)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:12850332..12852613-chr6:12857347..12858896,2	K562	blood:
2	chr6:12785406..12787677-chr6:12794125..12796847,2	K562	blood:
3	chr6:12860458..12863144-chr6:12869628..12871979,2	MCF-7	breast:
4	chr6:12917516..12920384-chr6:12920626..12922714,2	K562	blood:
5	chr6:12857977..12859701-chr6:12862061..12865046,2	K562	blood:
6	chr6:12927202..12927897-chr6:13148834..13149408,2	MCF-7	breast:
7	chr6:12915914..12916714-chr6:13328445..13329423,2	MCF-7	breast:
8	chr6:12792140..12794667-chr6:12808373..12809956,2	K562	blood:
9	chr6:12820824..12822422-chr6:12824948..12827101,2	K562	blood:
10	chr6:12794717..12797000-chr6:12801695..12804482,2	MCF-7	breast:
11	chr6:12860458..12863144-chr6:12869628..12871979,2	MCF-7	breast:
12	chr6:12781103..12783814-chr6:12783926..12785868,2	MCF-7	breast:
13	chr6:12936966..12940457-chr6:12942026..12944192,3	K562	blood:
14	chr6:12917516..12920384-chr6:12920626..12922714,2	K562	blood:
15	chr6:12925983..12927810-chr6:12928390..12930957,2	K562	blood:
16	chr6:12795558..12798232-chr6:12799651..12801381,3	MCF-7	breast:
17	chr6:12925983..12927810-chr6:12928390..12930957,2	K562	blood:
18	chr6:12871173..12873614-chr6:12890833..12893563,2	K562	blood:
19	chr6:12637973..12638929-chr6:12893724..12895010,9	MCF-7	breast:
20	chr6:12815318..12818170-chr6:12823391..12825679,3	MCF-7	breast:
21	chr6:12638080..12638930-chr6:12844650..12845576,4	MCF-7	breast:
22	chr6:12792140..12794667-chr6:12808373..12809956,2	K562	blood:
23	chr6:12871173..12873081-chr6:12890185..12892333,2	K562	blood:
24	chr6:12828782..12831318-chr6:12831813..12833400,2	MCF-7	breast:
25	chr6:12745623..12748276-chr6:12782237..12784032,2	K562	blood:
26	chr6:12828782..12831318-chr6:12831813..12833400,2	MCF-7	breast:
27	chr6:12859448..12861530-chr6:12863983..12865942,2	K562	blood:
28	chr6:12606093..12606619-chr6:12893847..12894513,2	MCF-7	breast:
29	chr6:12864394..12867910-chr6:12868654..12871064,3	MCF-7	breast:
30	chr6:12820824..12822422-chr6:12824948..12827101,2	K562	blood:
31	chr6:12871769..12874405-chr6:12875673..12879485,3	K562	blood:
32	chr6:12864394..12867910-chr6:12868654..12871064,3	MCF-7	breast:
33	chr6:12863378..12865957-chr6:12874022..12876094,2	K562	blood:
34	chr6:12863028..12864927-chr6:12865342..12867413,2	MCF-7	breast:
35	chr6:12775970..12778165-chr6:12803153..12805714,2	K562	blood:
36	chr6:12859448..12861530-chr6:12863983..12865942,2	K562	blood:
37	chr6:12775970..12778165-chr6:12803153..12805714,2	K562	blood:
38	chr6:12869699..12871951-chr6:12874630..12877257,2	MCF-7	breast:
39	chr6:12785406..12787677-chr6:12794125..12796847,2	K562	blood:
40	chr6:12637273..12639578-chr6:12885531..12887268,2	MCF-7	breast:
41	chr6:12637589..12639398-chr6:12893710..12895346,24	MCF-7	breast:
42	chr6:12795558..12798232-chr6:12799651..12801381,3	MCF-7	breast:
43	chr6:12863028..12864927-chr6:12865342..12867413,2	MCF-7	breast:
44	chr6:12871173..12873081-chr6:12890185..12892333,2	K562	blood:
45	chr6:12822190..12823999-chr6:12824891..12827143,2	MCF-7	breast:
46	chr6:12863378..12865957-chr6:12874022..12876094,2	K562	blood:
47	chr6:12794717..12797000-chr6:12801695..12804482,2	MCF-7	breast:
48	chr6:12781103..12783814-chr6:12783926..12785868,2	MCF-7	breast:
49	chr6:12802245..12807092-chr6:12811208..12815324,5	MCF-7	breast:
50	chr6:12936966..12939245-chr6:12942026..12943632,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EDN1-3	chr6:12835177-12835420	NONHSAT107791
2	lnc-EDN1-3	chr6:12841047-12841270	NONHSAT107791

No data

Variant related genes	Relation type
ENSG00000145979	chromatin interactions

Extended variants
information (count: 6350 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:6350 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557748781	chr6:12769688-12769689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187157860	chr6:12769705-12769706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113030748	chr6:12769729-12769730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540493697	chr6:12769780-12769781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368126482	chr6:12769861-12769862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563387482	chr6:12769865-12769866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529139345	chr6:12769869-12769870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142782360	chr6:12769903-12769904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561794440	chr6:12769929-12769930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573765951	chr6:12769935-12769936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542783624	chr6:12769956-12769957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527535802	chr6:12769975-12769976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9463091	chr6:12770035-12770036	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147431463	chr6:12770097-12770098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570591719	chr6:12770120-12770121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185109905	chr6:12770131-12770132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548051519	chr6:12770179-12770180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114246856	chr6:12770194-12770195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530310991	chr6:12770201-12770202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548847349	chr6:12770216-12770217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139762460	chr6:12770230-12770231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141436299	chr6:12770247-12770248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527409454	chr6:12770266-12770267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116329053	chr6:12770308-12770309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189141157	chr6:12770329-12770330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150820327	chr6:12770343-12770344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139321182	chr6:12770388-12770389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573801412	chr6:12770407-12770408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550030806	chr6:12770423-12770424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs180722039	chr6:12770441-12770442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79366849	chr6:12770455-12770456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576149637	chr6:12770555-12770556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545065230	chr6:12770591-12770592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564968935	chr6:12770601-12770602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544943566	chr6:12770663-12770664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541405497	chr6:12770670-12770671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569753802	chr6:12770696-12770697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561388637	chr6:12770776-12770777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10948235	chr6:12770823-12770824	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs555397992	chr6:12770835-12770836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17678734	chr6:12770843-12770844	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs563847424	chr6:12770849-12770850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531449875	chr6:12770875-12770876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551485621	chr6:12770876-12770877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571292838	chr6:12770899-12770900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185976719	chr6:12770900-12770901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534461229	chr6:12770901-12770902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574985052	chr6:12770909-12770910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567552983	chr6:12770957-12770958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189735860	chr6:12770965-12770966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
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	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:778 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12762200-12780600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:12763000-12770000	Weak transcription	HSMMtube	muscle
3	chr6:12766400-12770600	Weak transcription	Aorta	Aorta
4	chr6:12769400-12770200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:12769400-12770200	Enhancers	NHDF-Ad	bronchial
6	chr6:12769400-12770400	Enhancers	Brain Germinal Matrix	brain
7	chr6:12769400-12773800	Enhancers	Fetal Brain Female	brain
8	chr6:12769600-12770200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:12769600-12770600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:12769600-12770600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:12769600-12770800	Enhancers	HSMM	muscle
12	chr6:12769600-12774000	Enhancers	Fetal Brain Male	brain
13	chr6:12769800-12770400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:12770000-12770400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr6:12770000-12770600	Enhancers	HSMMtube	muscle
16	chr6:12770200-12770600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:12770600-12775000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:12770600-12775800	Weak transcription	HSMMtube	muscle
19	chr6:12770800-12771000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:12770800-12776200	Weak transcription	HSMM	muscle
21	chr6:12771200-12772200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:12773800-12780400	Weak transcription	Fetal Brain Female	brain
23	chr6:12774000-12780400	Weak transcription	Fetal Brain Male	brain
24	chr6:12775000-12775400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:12775800-12776800	Enhancers	HSMMtube	muscle
26	chr6:12776200-12776800	Enhancers	HSMM	muscle
27	chr6:12776400-12776800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:12776400-12777000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:12776800-12780800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:12777000-12780600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:12780400-12780800	Enhancers	Brain Germinal Matrix	brain
32	chr6:12780400-12781200	Enhancers	Fetal Brain Male	brain
33	chr6:12780400-12781400	Enhancers	Fetal Brain Female	brain
34	chr6:12780600-12781000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:12780600-12781200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr6:12780600-12781200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:12780600-12781200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:12780600-12781200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:12780600-12781200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:12780600-12781400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:12780800-12781200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:12780800-12781400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:12781200-12787800	Weak transcription	Fetal Brain Male	brain
44	chr6:12781600-12782400	Enhancers	Placenta	Placenta
45	chr6:12781800-12782400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:12782400-12785000	Weak transcription	Placenta	Placenta
47	chr6:12782400-12787800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:12783400-12783800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:12785000-12785600	Enhancers	Placenta	Placenta
50	chr6:12785600-12786000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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