Variant report

Variant	nsv601207
Chromosome Location	chr6:27678451-27679347
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:2)
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	chr6:27676712..27678626-chr6:27679096..27681049,2	K562	blood:
2	chr6:27661232..27663489-chr6:27678201..27680638,2	K562	blood:
3	chr6:27676712..27678626-chr6:27679096..27681049,2	K562	blood:
4	chr6:27641336..27643543-chr6:27677360..27680125,2	K562	blood:
5	chr6:27676729..27679149-chr6:27683111..27685492,2	K562	blood:
6	chr6:27677806..27681371-chr6:27682071..27685052,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H2AI-3	chr6:27678460-27678670	NONHSAT108397
2	lnc-HIST1H2AI-2	chr6:27678460-27678668	XLOC_005220

No data

Extended variants
information (count: 26 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545861187	chr6:27678452-27678453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562490153	chr6:27678498-27678499	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs375984484	chr6:27678524-27678525	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs111599835	chr6:27678560-27678561	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs557167306	chr6:27678578-27678579	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs187732176	chr6:27678607-27678608	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs561599332	chr6:27678659-27678660	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs527600667	chr6:27678707-27678708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546553788	chr6:27678828-27678829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367864492	chr6:27678849-27678850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200354437	chr6:27678850-27678851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192211142	chr6:27678882-27678883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552638524	chr6:27678885-27678886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200978647	chr6:27678908-27678909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113094338	chr6:27678909-27678910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371466574	chr6:27678910-27678911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72544200	chr6:27678911-27678912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397710599	chr6:27678912-27678913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369907415	chr6:27678958-27678959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538397366	chr6:27678976-27678977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12525693	chr6:27678978-27678979	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs143843223	chr6:27679034-27679035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148164155	chr6:27679100-27679101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73389013	chr6:27679125-27679126	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs77079667	chr6:27679169-27679170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545520546	chr6:27679275-27679276	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27662400-27680000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:27662400-27680400	Weak transcription	Spleen	Spleen
3	chr6:27662400-27680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:27662400-27684600	Weak transcription	Lung	lung
5	chr6:27662400-27685600	Weak transcription	Esophagus	oesophagus
6	chr6:27662600-27678600	Weak transcription	Primary B cells from cord blood	blood
7	chr6:27662600-27680600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:27662600-27680800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:27662600-27684000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:27662800-27678600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:27662800-27684000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:27662800-27684800	Weak transcription	Fetal Kidney	kidney
13	chr6:27662800-27688400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:27662800-27688600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:27662800-27689000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:27663000-27688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:27663200-27680800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:27663200-27682400	Weak transcription	Pancreas	Pancrea
19	chr6:27663200-27683800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:27663200-27688400	Weak transcription	HMEC	breast
21	chr6:27663400-27687800	Weak transcription	NHEK	skin
22	chr6:27664600-27684600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:27668200-27684400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:27668800-27680400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:27669800-27684400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:27671400-27687200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:27671600-27688600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:27671800-27680400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:27671800-27680400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:27671800-27681400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:27672000-27680000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:27672000-27680600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:27672200-27678600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:27672200-27678800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:27672200-27680800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr6:27672200-27683000	Weak transcription	Hela-S3	cervix
37	chr6:27672800-27680400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:27673000-27684800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr6:27673200-27684800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr6:27673600-27687600	Weak transcription	Fetal Intestine Small	intestine
41	chr6:27674600-27687000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr6:27675000-27678600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr6:27675000-27681000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:27675200-27678800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:27675200-27680600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:27675200-27685000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr6:27677000-27680200	Weak transcription	A549	lung
48	chr6:27677400-27681800	Strong transcription	Fetal Stomach	stomach
49	chr6:27677800-27682200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:27677800-27682800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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