Variant report

Variant	nsv549104
Chromosome Location	chr1:210304319-210338196
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1101 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2046850	chr1:210304319-210304320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557111954	chr1:210304346-210304347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575361388	chr1:210304364-210304365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543213371	chr1:210304384-210304385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554853404	chr1:210304388-210304389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61827908	chr1:210304404-210304405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573526364	chr1:210304503-210304504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550231228	chr1:210304549-210304550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2046851	chr1:210304551-210304552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564972556	chr1:210304563-210304564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34030549	chr1:210304620-210304621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532386660	chr1:210304635-210304636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180715062	chr1:210304674-210304675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77160124	chr1:210304687-210304688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568624580	chr1:210304707-210304708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114869573	chr1:210304753-210304754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537882919	chr1:210304813-210304814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185088456	chr1:210304854-210304855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528417262	chr1:210304858-210304859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546903381	chr1:210304859-210304860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573130012	chr1:210304890-210304891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375473882	chr1:210304918-210304919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571534668	chr1:210304966-210304967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538638921	chr1:210305004-210305005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11590671	chr1:210305029-210305030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201614848	chr1:210305045-210305046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141482260	chr1:210305194-210305195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147009565	chr1:210305236-210305237	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs367818445	chr1:210305256-210305257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs190091831	chr1:210305266-210305267	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs555171036	chr1:210305319-210305320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs556416791	chr1:210305343-210305344	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs182652184	chr1:210305347-210305348	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs540392744	chr1:210305356-210305357	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs558844519	chr1:210305408-210305409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539005154	chr1:210305415-210305416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560007860	chr1:210305455-210305456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2200970	chr1:210305521-210305522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs375384468	chr1:210305598-210305599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557737352	chr1:210305610-210305611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185782536	chr1:210305621-210305622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541135196	chr1:210305651-210305652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190392395	chr1:210305654-210305655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541938497	chr1:210305685-210305686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561174299	chr1:210305694-210305695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528293225	chr1:210305737-210305738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546768210	chr1:210305775-210305776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11119413	chr1:210305821-210305822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532436434	chr1:210305836-210305837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11119414	chr1:210305881-210305882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:89)

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

Chromatin state (count:41 , 50 per page) page: 1

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	chr1:210303200-210305200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:210303400-210308200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:210305200-210305400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:210305400-210318400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:210308200-210308400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:210308400-210311400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:210311400-210313600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:210313600-210318200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:210314800-210315600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr1:210315600-210316200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:210316200-210316400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr1:210318000-210319000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:210318000-210319800	Enhancers	HMEC	breast
16	chr1:210318200-210318800	Enhancers	NHEK	skin
17	chr1:210318200-210319200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:210318200-210319400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:210318400-210318800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:210318400-210319200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:210319200-210323400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:210319200-210338400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:210319400-210329000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:210319600-210324600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:210324600-210324800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:210327000-210327600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:210327600-210327800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:210327600-210327800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:210327800-210332000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:210328600-210329600	Enhancers	Fetal Heart	heart
31	chr1:210329000-210329200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:210329200-210329400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:210329400-210339000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:210331600-210334600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:210331800-210332800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:210332400-210334600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:210332800-210333600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:210333200-210340600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:210334000-210334200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:210336600-210336800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:210337600-210340600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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