Variant report

Variant	nsv873145
Chromosome Location	chr1:210302595-210347417
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210330425..210331938-chr1:210333918..210336587,2	K562	blood:
2	chr1:210323268..210327059-chr1:210328084..210329766,3	MCF-7	breast:
3	chr1:210325776..210327763-chr1:210371201..210372948,2	MCF-7	breast:
4	chr1:210338675..210341469-chr1:210342023..210343618,2	MCF-7	breast:
5	chr1:210330425..210331938-chr1:210333918..210336587,2	K562	blood:
6	chr1:210316361..210320109-chr1:210546317..210548810,5	MCF-7	breast:
7	chr1:210324019..210326908-chr1:210824141..210827661,3	K562	blood:
8	chr1:210313790..210315610-chr1:210545202..210547564,2	MCF-7	breast:
9	chr1:210313972..210316201-chr1:210423103..210425366,2	MCF-7	breast:
10	chr1:210323268..210327059-chr1:210328084..210329766,3	MCF-7	breast:
11	chr1:210314956..210318963-chr1:210546030..210548904,4	K562	blood:
12	chr1:210316536..210317443-chr1:211686960..211687594,2	K562	blood:
13	chr1:210310049..210311976-chr1:210316997..210318625,2	K562	blood:
14	chr1:210316285..210317489-chr1:210533856..210534705,3	MCF-7	breast:
15	chr1:210338675..210341469-chr1:210342023..210343618,2	MCF-7	breast:
16	chr1:210310049..210311976-chr1:210316997..210318625,2	K562	blood:
17	chr1:210336624..210338329-chr1:210405939..210407784,2	MCF-7	breast:
18	chr1:210327978..210329782-chr1:210330529..210332629,2	MCF-7	breast:
19	chr1:210316538..210317044-chr1:210484103..210484920,2	K562	blood:
20	chr1:210265340..210267266-chr1:210304379..210306756,2	K562	blood:
21	chr1:210317209..210318789-chr1:210487022..210489666,2	K562	blood:
22	chr1:210316574..210317598-chr1:210573631..210575041,4	K562	blood:
23	chr1:210316840..210317797-chr1:211307565..211308512,2	K562	blood:
24	chr1:210316799..210319752-chr1:210525162..210527241,2	MCF-7	breast:
25	chr1:210316548..210317518-chr1:210484113..210484757,2	MCF-7	breast:
26	chr1:210314232..210320481-chr1:210542652..210547614,9	MCF-7	breast:
27	chr1:210327978..210329782-chr1:210330529..210332629,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200972	chromatin interactions
ENSG00000082497	chromatin interactions
ENSG00000203706	chromatin interactions

Extended variants
information (count: 1494 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1494 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs923561	chr1:210302595-210302596	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561714041	chr1:210302641-210302642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529025528	chr1:210302670-210302671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541098886	chr1:210302679-210302680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4844947	chr1:210302700-210302701	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533583396	chr1:210302712-210302713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75742505	chr1:210302724-210302725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570368436	chr1:210302752-210302753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371215753	chr1:210302832-210302833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531191136	chr1:210302838-210302839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143940793	chr1:210302888-210302889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148568935	chr1:210302910-210302911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141926431	chr1:210302914-210302915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112999561	chr1:210302945-210302946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150698319	chr1:210302952-210302953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139936489	chr1:210303052-210303053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539249292	chr1:210303095-210303096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143598781	chr1:210303118-210303119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146798643	chr1:210303153-210303154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139510349	chr1:210303210-210303211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72649954	chr1:210303218-210303219	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573566384	chr1:210303246-210303247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550088886	chr1:210303341-210303342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115369664	chr1:210303374-210303375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192198831	chr1:210303403-210303404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184520594	chr1:210303405-210303406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188504799	chr1:210303406-210303407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538855545	chr1:210303439-210303440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563865859	chr1:210303495-210303496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531281682	chr1:210303524-210303525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551937197	chr1:210303530-210303531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565504348	chr1:210303533-210303534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536064273	chr1:210303540-210303541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73074129	chr1:210303576-210303577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145231207	chr1:210303587-210303588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2484031	chr1:210303614-210303615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs372566612	chr1:210303638-210303639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2046849	chr1:210303665-210303666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs201091464	chr1:210303670-210303671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538737302	chr1:210303680-210303681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200656473	chr1:210303701-210303702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542868142	chr1:210303705-210303706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373504141	chr1:210303713-210303714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1413696	chr1:210303717-210303718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569491170	chr1:210303762-210303763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536982421	chr1:210303800-210303801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184487723	chr1:210303803-210303804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34797588	chr1:210303824-210303825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573825952	chr1:210303845-210303846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149092165	chr1:210303855-210303856	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
Schizophrenia	20967226	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210298400-210318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:210299600-210305800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:210302000-210303400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:210303000-210303200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:210303200-210305200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:210303400-210308200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:210305200-210305400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:210305400-210318400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:210308200-210308400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:210308400-210311400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:210311400-210313600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:210313600-210318200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:210314800-210315600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr1:210315600-210316200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:210316200-210316400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr1:210318000-210319000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:210318000-210319800	Enhancers	HMEC	breast
18	chr1:210318200-210318800	Enhancers	NHEK	skin
19	chr1:210318200-210319200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:210318200-210319400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:210318400-210318800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:210318400-210319200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:210319200-210323400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:210319200-210338400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:210319400-210329000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:210319600-210324600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:210324600-210324800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:210327000-210327600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:210327600-210327800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:210327600-210327800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:210327800-210332000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:210328600-210329600	Enhancers	Fetal Heart	heart
33	chr1:210329000-210329200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:210329200-210329400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:210329400-210339000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:210331600-210334600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:210331800-210332800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:210332400-210334600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:210332800-210333600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:210333200-210340600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:210334000-210334200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:210336600-210336800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:210337600-210340600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:210338400-210339400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:210339000-210339600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:210339400-210361200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:210339600-210340400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:210339800-210340600	Enhancers	Duodenum Mucosa	Duodenum
49	chr1:210340400-210340600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:210340400-210340600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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