Variant report

Variant	nsv1015715
Chromosome Location	chr6:26704816-26765056
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:3)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:26569878..26572045-chr6:26757682..26759933,2	K562	blood:
2	chr6:26757504..26759544-chr6:26759829..26761345,2	K562	blood:
3	chr6:26757504..26759544-chr6:26759829..26761345,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABT1-6	chr6:26712863-26714864	ucscGeneNc_uc010jqm_1
2	lnc-ABT1-6	chr6:26710940-26711798	ucscGeneNc_uc010jqm_1
3	lnc-ABT1-4	chr6:26752185-26752237	XLOC_005215
4	lnc-ABT1-4	chr6:26728058-26728148	XLOC_005215
5	lnc-ABT1-4	chr6:26724185-26724429	XLOC_005215

No data

Extended variants
information (count: 1410 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1410 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577857202	chr6:26704816-26704817	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs573726315	chr6:26704842-26704843	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs542785161	chr6:26704905-26704906	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs545019110	chr6:26704972-26704973	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs572884110	chr6:26704974-26704975	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs377690698	chr6:26705089-26705090	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs544708492	chr6:26705120-26705121	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs564501499	chr6:26705219-26705220	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs62396229	chr6:26705233-26705234	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs145089067	chr6:26705234-26705235	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs561184391	chr6:26705269-26705270	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs34976852	chr6:26705271-26705272	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs371126609	chr6:26705412-26705413	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs375052416	chr6:26705423-26705424	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs530441759	chr6:26705444-26705445	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs544475587	chr6:26705512-26705513	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs561608676	chr6:26705538-26705539	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs558120648	chr6:26705549-26705550	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs547164510	chr6:26705551-26705552	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs567002475	chr6:26705563-26705564	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs532590171	chr6:26705574-26705575	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs552711415	chr6:26705600-26705601	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs569238272	chr6:26705603-26705604	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs538262588	chr6:26705611-26705612	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs555030408	chr6:26705613-26705614	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs567536314	chr6:26705621-26705622	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs536192835	chr6:26705623-26705624	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs553128673	chr6:26705631-26705632	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs572963048	chr6:26705634-26705635	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs544669893	chr6:26705661-26705662	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs558252678	chr6:26705730-26705731	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs575027508	chr6:26705770-26705771	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs543792047	chr6:26705794-26705795	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs560765499	chr6:26705819-26705820	Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs573174432	chr6:26705859-26705860	Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs540571476	chr6:26705896-26705897	Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs560693969	chr6:26705899-26705900	Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs532766920	chr6:26705907-26705908	Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs552672608	chr6:26705917-26705918	Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs562949108	chr6:26705930-26705931	Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs531876263	chr6:26705946-26705947	Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs548592954	chr6:26705988-26705989	Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs568408574	chr6:26706097-26706098	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs368172077	chr6:26706169-26706170	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs536507990	chr6:26706171-26706172	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs546593911	chr6:26706177-26706178	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs566632122	chr6:26706185-26706186	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs538424883	chr6:26706193-26706194	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs540304210	chr6:26706275-26706276	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs558367231	chr6:26706289-26706290	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Lung cancer	18438408	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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	21569311	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26701800-26705000	Weak transcription	HMEC	breast
2	chr6:26702000-26705000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:26702000-26706400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:26704200-26705600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:26704200-26705800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:26704400-26705600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:26704400-26705600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:26704400-26705600	Bivalent Enhancer	HepG2	liver
9	chr6:26704800-26705200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:26704800-26705600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:26705000-26705400	Enhancers	NHEK	skin
12	chr6:26705000-26705600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:26705000-26705600	Enhancers	HMEC	breast
14	chr6:26705200-26705600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr6:26705400-26705600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:26705600-26706000	Flanking Bivalent TSS/Enh	HepG2	liver
17	chr6:26706000-26706200	Bivalent Enhancer	HepG2	liver
18	chr6:26706200-26706400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:26706200-26706400	Flanking Active TSS	K562	blood
20	chr6:26706200-26706800	Enhancers	HepG2	liver
21	chr6:26706400-26706600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr6:26706400-26706600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:26739200-26739400	Bivalent Enhancer	Fetal Heart	heart
24	chr6:26739200-26740600	Bivalent/Poised TSS	Fetal Lung	lung
25	chr6:26739400-26739800	Flanking Bivalent TSS/Enh	Fetal Heart	heart
26	chr6:26739400-26740200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr6:26739400-26740200	ZNF genes & repeats	Fetal Kidney	kidney
28	chr6:26739400-26740400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
29	chr6:26739600-26740000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
30	chr6:26739600-26740200	ZNF genes & repeats	Gastric	stomach
31	chr6:26739600-26740400	ZNF genes & repeats	Pancreas	Pancrea
32	chr6:26739600-26740600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:26739600-26740600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:26739800-26740600	Bivalent/Poised TSS	Fetal Heart	heart
35	chr6:26740200-26741400	Weak transcription	Fetal Kidney	kidney
36	chr6:26740600-26745200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:26743200-26743800	Bivalent/Poised TSS	A549	lung
38	chr6:26743400-26744000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr6:26743600-26743800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
40	chr6:26743600-26743800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
41	chr6:26743600-26743800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:26743600-26743800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
43	chr6:26743600-26743800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:26743600-26743800	Bivalent Enhancer	Adipose Nuclei	Adipose
45	chr6:26743600-26743800	Flanking Bivalent TSS/Enh	Ovary	ovary
46	chr6:26743600-26743800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
47	chr6:26743600-26743800	Bivalent/Poised TSS	HUVEC	blood vessel
48	chr6:26743600-26743800	Flanking Bivalent TSS/Enh	Osteobl	bone
49	chr6:26743600-26744000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr6:26743600-26744000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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