Variant report

Variant	esv2422291
Chromosome Location	chr6:23466080-23600459
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:19)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:23584056..23584725-chr6:23611938..23612497,2	MCF-7	breast:
2	chr6:23571265..23571916-chr6:23611611..23612158,2	MCF-7	breast:
3	chr6:23588969..23590584-chr6:23597216..23599632,2	MCF-7	breast:
4	chr6:23515035..23517523-chr6:23539434..23541280,2	K562	blood:
5	chr6:23515035..23517523-chr6:23539434..23541280,2	K562	blood:
6	chr6:23566113..23568244-chr6:23571080..23573396,2	K562	blood:
7	chr6:23599132..23601541-chr6:23601911..23604047,2	MCF-7	breast:
8	chr6:23566113..23568244-chr6:23571080..23573396,2	K562	blood:
9	chr6:23547739..23548783-chr6:23658962..23660028,7	MCF-7	breast:
10	chr6:23599143..23600711-chr6:23603983..23605772,2	K562	blood:
11	chr6:23542679..23544886-chr6:23548358..23549966,2	MCF-7	breast:
12	chr3:71632154..71634253-chr6:23552255..23554303,2	MCF-7	breast:
13	chr6:23504116..23506382-chr6:23510410..23513238,2	MCF-7	breast:
14	chr6:23505213..23506964-chr6:23509259..23510888,2	K562	blood:
15	chr6:23505213..23506964-chr6:23509259..23510888,2	K562	blood:
16	chr6:23504116..23506382-chr6:23510410..23513238,2	MCF-7	breast:
17	chr6:23588969..23590584-chr6:23597216..23599632,2	MCF-7	breast:
18	chr6:23542679..23544886-chr6:23548358..23549966,2	MCF-7	breast:
19	chr6:23547784..23548342-chr6:23754161..23755095,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRSN1-6	chr6:23512071-23512337	l_3136_chr6:23507180-23512155_testes
2	lnc-NRSN1-6	chr6:23507181-23507329	l_3136_chr6:23507180-23512155_testes
3	lnc-NRSN1-6	chr6:23511113-23511330	l_3136_chr6:23507180-23512155_testes

No data

Variant related genes	Relation type
ENSG00000270562	chromatin interactions
ENSG00000114861	chromatin interactions

Extended variants
information (count: 3278 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:3278 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577541770	chr6:23466460-23466461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34803678	chr6:23466486-23466487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138986681	chr6:23466503-23466504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561287601	chr6:23466515-23466516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552756837	chr6:23466536-23466537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368524030	chr6:23466548-23466549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543437242	chr6:23466603-23466604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181780223	chr6:23466619-23466620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565082107	chr6:23466626-23466627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563201563	chr6:23466633-23466634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544114021	chr6:23466634-23466635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562570277	chr6:23466637-23466638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142996533	chr6:23466651-23466652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186475208	chr6:23466663-23466664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143678617	chr6:23466669-23466670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199004	chr6:23466670-23466671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547267495	chr6:23466736-23466737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571872841	chr6:23466765-23466766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539206622	chr6:23466782-23466783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557286353	chr6:23466794-23466795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs16887592	chr6:23466800-23466801	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536747102	chr6:23466821-23466822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189719726	chr6:23466829-23466830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573271496	chr6:23466893-23466894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540298586	chr6:23466906-23466907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182664289	chr6:23466908-23466909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374335790	chr6:23466910-23466911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577080614	chr6:23466945-23466946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544368495	chr6:23466994-23466995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562547587	chr6:23467008-23467009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528974609	chr6:23467022-23467023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186437051	chr6:23467050-23467051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559859851	chr6:23467078-23467079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527270998	chr6:23467105-23467106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574140973	chr6:23467109-23467110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557211087	chr6:23467115-23467116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191630245	chr6:23467127-23467128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74584697	chr6:23467130-23467131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191335674	chr6:23467156-23467157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532715857	chr6:23467169-23467170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542365256	chr6:23467197-23467198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148056425	chr6:23467205-23467206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141804166	chr6:23467237-23467238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555079472	chr6:23467249-23467250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369126650	chr6:23467256-23467257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183650066	chr6:23467269-23467270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534164617	chr6:23467284-23467285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543337102	chr6:23467289-23467290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558704909	chr6:23467350-23467351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577022865	chr6:23467358-23467359	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
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
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
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23466400-23467800	Enhancers	Fetal Brain Male	brain
2	chr6:23478200-23479200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:23478600-23479000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:23479200-23479800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr6:23479800-23480800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr6:23480800-23484200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr6:23483800-23484400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:23484200-23489200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:23489200-23490200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr6:23493000-23493200	Enhancers	Brain Germinal Matrix	brain
11	chr6:23493200-23494200	Weak transcription	Brain Germinal Matrix	brain
12	chr6:23494200-23495400	Enhancers	Brain Germinal Matrix	brain
13	chr6:23496000-23496200	Enhancers	Fetal Lung	lung
14	chr6:23496000-23496400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:23497800-23498600	Enhancers	Fetal Heart	heart
16	chr6:23497800-23498600	Enhancers	Right Ventricle	heart
17	chr6:23498000-23498800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:23498000-23499600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:23498000-23499600	Enhancers	Fetal Lung	lung
20	chr6:23498200-23498600	Enhancers	Fetal Muscle Leg	muscle
21	chr6:23498800-23499200	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:23510200-23511600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:23510400-23511400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr6:23510800-23512600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:23511000-23511600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:23511000-23512200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:23511000-23512200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:23511000-23512800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr6:23512200-23512800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:23512800-23513000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:23515400-23515600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:23515600-23523200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:23521800-23522200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr6:23522000-23523400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:23522200-23523200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:23523000-23523800	Enhancers	Primary hematopoietic stem cells	blood
37	chr6:23523200-23523400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr6:23523200-23523400	Enhancers	Fetal Kidney	kidney
39	chr6:23523200-23523600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:23523200-23523600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:23523200-23523600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr6:23523200-23523600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:23523200-23523800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:23523200-23523800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr6:23523200-23523800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:23523200-23523800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr6:23523200-23523800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:23523200-23523800	Enhancers	NHEK	skin
49	chr6:23523200-23524000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:23523200-23524000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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