Variant report

Variant	nsv969368
Chromosome Location	chr6:28415575-28416789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr6:28413894-28415609	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:28416766..28418976-chr6:28420312..28423065,2	K562	blood:

Variant related genes	Relation type
ZSCAN23	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140427260	chr6:28415601-28415602	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs530407300	chr6:28415636-28415637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535667162	chr6:28415672-28415673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187369954	chr6:28415674-28415675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6915122	chr6:28415686-28415687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs554055036	chr6:28415778-28415779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577421655	chr6:28415838-28415839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6939966	chr6:28415885-28415886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs369780057	chr6:28415889-28415890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192254711	chr6:28415901-28415902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11755387	chr6:28416034-28416035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs202231606	chr6:28416047-28416048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17316033	chr6:28416049-28416050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs572899620	chr6:28416075-28416076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189720085	chr6:28416104-28416105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149356531	chr6:28416120-28416121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533224524	chr6:28416177-28416178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552304037	chr6:28416235-28416236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569220082	chr6:28416245-28416246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537981912	chr6:28416314-28416315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201246987	chr6:28416341-28416342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397735399	chr6:28416350-28416351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548267679	chr6:28416369-28416370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377056159	chr6:28416378-28416379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568175488	chr6:28416390-28416391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534130161	chr6:28416486-28416487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370856005	chr6:28416493-28416494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180791178	chr6:28416509-28416510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139630664	chr6:28416574-28416575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540112646	chr6:28416616-28416617	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs112218317	chr6:28416656-28416657	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs575988975	chr6:28416702-28416703	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs541984709	chr6:28416707-28416708	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs550412696	chr6:28416713-28416714	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs573216177	chr6:28416717-28416718	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs144349579	chr6:28416749-28416750	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs572122554	chr6:28416757-28416758	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs146121940	chr6:28416776-28416777	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28414000-28415600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:28414400-28415600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:28414400-28415600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:28414400-28415600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:28414400-28415600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:28414400-28415600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:28414400-28415600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:28414600-28415600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:28414600-28415600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:28414600-28415600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
11	chr6:28415200-28415600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr6:28415200-28415600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:28415400-28415600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr6:28415400-28415600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:28415400-28415600	Bivalent Enhancer	Primary T cells from cord blood	blood
16	chr6:28415400-28415600	Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr6:28415400-28415600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:28415600-28416400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr6:28416200-28417400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr6:28416200-28417600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr6:28416400-28417600	Enhancers	Primary T cells from cord blood	blood
22	chr6:28416400-28417600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr6:28416600-28417000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
24	chr6:28416600-28418000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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