Variant report

Variant	nsv818800
Chromosome Location	chr1:210258653-210304319
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210263270..210265480-chr1:210265960..210268374,2	K562	blood:
2	chr1:210266309..210268653-chr1:210272618..210275297,2	K562	blood:
3	chr1:210266309..210268653-chr1:210272618..210275297,2	K562	blood:
4	chr1:210277431..210277931-chr2:99196921..99197422,2	NB4	blood:
5	chr1:210263270..210265480-chr1:210265960..210268374,2	K562	blood:
6	chr1:210263054..210265435-chr1:210545571..210548117,2	MCF-7	breast:
7	chr1:210289977..210291636-chr1:210546709..210548548,2	K562	blood:
8	chr1:210265340..210267266-chr1:210304379..210306756,2	K562	blood:
9	chr1:210291718..210293860-chr1:210544632..210547105,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200972	chromatin interactions

Extended variants
information (count: 1588 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1334572	chr1:210258653-210258654	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575748167	chr1:210258694-210258695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542959516	chr1:210258702-210258703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140543260	chr1:210258703-210258704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144188988	chr1:210258705-210258706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549504828	chr1:210258727-210258728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565410065	chr1:210258741-210258742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572920906	chr1:210258746-210258747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34039149	chr1:210258782-210258783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111504612	chr1:210258791-210258792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs58166962	chr1:210258803-210258804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551023813	chr1:210258813-210258814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569751619	chr1:210258912-210258913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187567353	chr1:210258924-210258925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146579066	chr1:210258946-210258947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74519296	chr1:210258953-210258954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534352861	chr1:210259047-210259048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569333501	chr1:210259167-210259168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141269965	chr1:210259217-210259218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571195309	chr1:210259218-210259219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113497028	chr1:210259229-210259230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556975772	chr1:210259235-210259236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193103518	chr1:210259259-210259260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184473836	chr1:210259320-210259321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555328936	chr1:210259360-210259361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12730574	chr1:210259464-210259465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12726602	chr1:210259465-210259466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112243194	chr1:210259497-210259498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34919044	chr1:210259498-210259499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35020810	chr1:210259541-210259542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372195142	chr1:210259587-210259588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148256755	chr1:210259596-210259597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116791016	chr1:210259614-210259615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577120775	chr1:210259650-210259651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544422774	chr1:210259654-210259655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572308936	chr1:210259665-210259666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375473555	chr1:210259666-210259667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538283376	chr1:210259692-210259693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562999198	chr1:210259707-210259708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370103780	chr1:210259732-210259733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367811728	chr1:210259749-210259750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548754704	chr1:210259835-210259836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114497082	chr1:210259848-210259849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528391955	chr1:210259873-210259874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571937713	chr1:210259875-210259876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546443476	chr1:210259881-210259882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115106461	chr1:210259882-210259883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12073617	chr1:210259974-210259975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140279882	chr1:210260003-210260004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181246118	chr1:210260049-210260050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210248600-210261000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:210248600-210273200	Weak transcription	Fetal Brain Female	brain
3	chr1:210250400-210263000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:210250800-210260400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:210250800-210278800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:210251400-210260200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:210257800-210275000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:210258000-210258800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:210258800-210259400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:210259400-210259600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:210260200-210263600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:210260400-210260600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:210260600-210285200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:210261000-210261200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:210261000-210261200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:210261200-210261600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:210262000-210279600	Weak transcription	NH-A	brain
18	chr1:210263000-210263200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:210263200-210263800	Active TSS	A549	lung
20	chr1:210263200-210269800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:210263600-210267000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:210266200-210266400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:210266400-210279000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:210267000-210267200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:210267200-210268000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:210268000-210269400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:210268400-210287400	Weak transcription	Brain Germinal Matrix	brain
28	chr1:210269000-210278400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:210269400-210270600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:210269800-210270400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:210270400-210273400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:210270600-210271800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:210271800-210272200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:210272000-210273400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:210272200-210273200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:210273200-210274000	Enhancers	Fetal Brain Female	brain
37	chr1:210273200-210275000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:210273400-210273600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:210273400-210274200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:210273400-210274400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:210273600-210284600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:210274000-210280200	Weak transcription	Fetal Brain Female	brain
43	chr1:210274200-210290600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:210274400-210278000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:210275000-210277200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:210276600-210285400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:210277000-210279200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:210277200-210277800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr1:210277200-210277800	Enhancers	Stomach Mucosa	stomach
50	chr1:210277200-210280600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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