Variant report

Variant	nsv601206
Chromosome Location	chr6:27676794-27679347
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:6)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27641336..27643543-chr6:27677360..27680125,2	K562	blood:
2	chr6:27677806..27681371-chr6:27682071..27685052,3	K562	blood:
3	chr6:27676712..27678626-chr6:27679096..27681049,2	K562	blood:
4	chr6:27676712..27678626-chr6:27679096..27681049,2	K562	blood:
5	chr6:27676729..27679149-chr6:27683111..27685492,2	K562	blood:
6	chr6:27661232..27663489-chr6:27678201..27680638,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H2AI-3	chr6:27677903-27678001	NONHSAT108395
2	lnc-HIST1H2AI-3	chr6:27678460-27678670	NONHSAT108397
3	lnc-HIST1H2AI-3	chr6:27674418-27676936	NONHSAT108398
4	lnc-HIST1H2AI-3	chr6:27674418-27676935	XLOC_005219
5	lnc-HIST1H2AI-2	chr6:27677989-27678004	XLOC_005220
6	lnc-HIST1H2AI-2	chr6:27678460-27678668	XLOC_005220
7	lnc-HIST1H2AI-3	chr6:27674418-27676935	ENSG00000246046
8	lnc-HIST1H2AI-3	chr6:27677903-27678001	NONHSAT108394

No data

Variant related genes	Relation type
TOP1	miRNA target sites

Extended variants
information (count: 80 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4713118	chr6:27676794-27676795	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144693925	chr6:27676809-27676810	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs73739606	chr6:27676835-27676836	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563560647	chr6:27676836-27676837	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs147461699	chr6:27676838-27676839	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs148504165	chr6:27676853-27676854	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs61025649	chr6:27676854-27676855	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs373129024	chr6:27676881-27676882	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs541758112	chr6:27676914-27676915	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs552358863	chr6:27676950-27676951	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569011744	chr6:27676956-27676957	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115568705	chr6:27676962-27676963	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375758138	chr6:27676963-27676964	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548221973	chr6:27677005-27677006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567299681	chr6:27677059-27677060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552460364	chr6:27677066-27677067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536293398	chr6:27677069-27677070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368372689	chr6:27677141-27677142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78626539	chr6:27677160-27677161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553039539	chr6:27677213-27677214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181649228	chr6:27677289-27677290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142720400	chr6:27677316-27677317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559126869	chr6:27677356-27677357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547636508	chr6:27677405-27677406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575812079	chr6:27677434-27677435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544876543	chr6:27677461-27677462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9380009	chr6:27677489-27677490	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs185539346	chr6:27677513-27677514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151010072	chr6:27677625-27677626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540274563	chr6:27677677-27677678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13215072	chr6:27677728-27677729	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs140852899	chr6:27677804-27677805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376316814	chr6:27677825-27677826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528720255	chr6:27677870-27677871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568179715	chr6:27677907-27677908	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs143387835	chr6:27677913-27677914	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs562720607	chr6:27677942-27677943	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs531433627	chr6:27677943-27677944	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs548075243	chr6:27677944-27677945	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs568053251	chr6:27677951-27677952	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs191188131	chr6:27677974-27677975	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs546588795	chr6:27677975-27677976	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs566597536	chr6:27677995-27677996	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs539137048	chr6:27678000-27678001	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs182831783	chr6:27678012-27678013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146712369	chr6:27678014-27678015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372723838	chr6:27678157-27678158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140299741	chr6:27678229-27678230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145309891	chr6:27678264-27678265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75380639	chr6:27678278-27678279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27662400-27678000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:27662400-27680000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:27662400-27680400	Weak transcription	Spleen	Spleen
4	chr6:27662400-27680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:27662400-27684600	Weak transcription	Lung	lung
6	chr6:27662400-27685600	Weak transcription	Esophagus	oesophagus
7	chr6:27662600-27678200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:27662600-27678600	Weak transcription	Primary B cells from cord blood	blood
9	chr6:27662600-27680600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:27662600-27680800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:27662600-27684000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:27662800-27678400	Weak transcription	Fetal Lung	lung
13	chr6:27662800-27678400	Weak transcription	Thymus	Thymus
14	chr6:27662800-27678600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:27662800-27684000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr6:27662800-27684800	Weak transcription	Fetal Kidney	kidney
17	chr6:27662800-27688400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:27662800-27688600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:27662800-27689000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:27663000-27688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:27663200-27678200	Weak transcription	Brain Germinal Matrix	brain
22	chr6:27663200-27678200	Weak transcription	Fetal Brain Female	brain
23	chr6:27663200-27680800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr6:27663200-27682400	Weak transcription	Pancreas	Pancrea
25	chr6:27663200-27683800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:27663200-27688400	Weak transcription	HMEC	breast
27	chr6:27663400-27678400	Weak transcription	Fetal Brain Male	brain
28	chr6:27663400-27678400	Weak transcription	K562	blood
29	chr6:27663400-27687800	Weak transcription	NHEK	skin
30	chr6:27664600-27684600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:27668200-27684400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:27668800-27680400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:27669600-27677000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:27669800-27684400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:27670000-27677200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:27671400-27687200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:27671600-27688600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:27671800-27678200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr6:27671800-27680400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr6:27671800-27680400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:27671800-27681400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr6:27672000-27678000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr6:27672000-27678200	Weak transcription	HepG2	liver
44	chr6:27672000-27678400	Weak transcription	Ovary	ovary
45	chr6:27672000-27680000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:27672000-27680600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr6:27672200-27678000	Weak transcription	Primary T cells from cord blood	blood
48	chr6:27672200-27678600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:27672200-27678800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:27672200-27680800	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links