Variant report

Variant	nsv548217
Chromosome Location	chr1:174797867-174812326
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174798481..174800550-chr1:174807771..174810609,2	MCF-7	breast:
2	chr1:174810056..174811969-chr1:174966210..174968359,2	K562	blood:
3	chr1:174805015..174806960-chr1:174807361..174809461,2	K562	blood:
4	chr1:174803637..174805618-chr1:174962090..174964287,2	K562	blood:
5	chr1:174787124..174790078-chr1:174796659..174798420,2	K562	blood:
6	chr1:174802465..174804337-chr1:174807941..174810779,2	MCF-7	breast:
7	chr1:174768938..174770778-chr1:174801849..174804479,2	K562	blood:
8	chr1:174804519..174806652-chr1:174968482..174970506,2	MCF-7	breast:
9	chr1:174802465..174804337-chr1:174807941..174810779,2	MCF-7	breast:
10	chr1:174132422..174134111-chr1:174800626..174802567,2	K562	blood:
11	chr1:174805015..174806960-chr1:174807361..174809461,2	K562	blood:
12	chr1:174790254..174793205-chr1:174795715..174797901,2	K562	blood:
13	chr1:174798481..174800550-chr1:174807771..174810609,2	MCF-7	breast:
14	chr1:174801846..174803721-chr1:174966290..174968763,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000152061	chromatin interactions
ENSG00000116161	chromatin interactions

Extended variants
information (count: 467 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2156853	chr1:174797867-174797868	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536391762	chr1:174797895-174797896	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192209321	chr1:174797938-174797939	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544720947	chr1:174797942-174797943	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184045646	chr1:174797974-174797975	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527294803	chr1:174798111-174798112	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547288906	chr1:174798281-174798282	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188631340	chr1:174798439-174798440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11802150	chr1:174798485-174798486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549975543	chr1:174798561-174798562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184339260	chr1:174798584-174798585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559101336	chr1:174798597-174798598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566030152	chr1:174798738-174798739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12123947	chr1:174798749-174798750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561835731	chr1:174798755-174798756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554951779	chr1:174798864-174798865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186846478	chr1:174798865-174798866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538789659	chr1:174798909-174798910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565595970	chr1:174798918-174798919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543784260	chr1:174798921-174798922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144756102	chr1:174798950-174798951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147504577	chr1:174798986-174798987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372910054	chr1:174798989-174798990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148564047	chr1:174799043-174799044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564686623	chr1:174799094-174799095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191736607	chr1:174799164-174799165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184337766	chr1:174799252-174799253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16847539	chr1:174799266-174799267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529972529	chr1:174799362-174799363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549821601	chr1:174799379-174799380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563455746	chr1:174799396-174799397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534672814	chr1:174799419-174799420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369581530	chr1:174799444-174799445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532348850	chr1:174799479-174799480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552699230	chr1:174799494-174799495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566215991	chr1:174799512-174799513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189284235	chr1:174799513-174799514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548537119	chr1:174799552-174799553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182317384	chr1:174799591-174799592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185712449	chr1:174799668-174799669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142954431	chr1:174799683-174799684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189482530	chr1:174799725-174799726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539685435	chr1:174799866-174799867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575646934	chr1:174799867-174799868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571838454	chr1:174799890-174799891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540788925	chr1:174799906-174799907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181473969	chr1:174799982-174799983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574359131	chr1:174800005-174800006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538124209	chr1:174800061-174800062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77747902	chr1:174800063-174800064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174777600-174799800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:174782000-174800800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:174782200-174813000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:174782600-174799200	Weak transcription	Liver	Liver
5	chr1:174784800-174806600	Weak transcription	HSMMtube	muscle
6	chr1:174786800-174798200	Weak transcription	Left Ventricle	heart
7	chr1:174792600-174801600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:174796600-174833400	Weak transcription	Primary B cells from cord blood	blood
9	chr1:174797200-174798400	Enhancers	HMEC	breast
10	chr1:174797400-174798000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:174797400-174798400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:174797400-174798400	Enhancers	NHEK	skin
13	chr1:174797800-174798400	Strong transcription	GM12878-XiMat	blood
14	chr1:174798400-174810800	Weak transcription	GM12878-XiMat	blood
15	chr1:174800800-174801600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:174801600-174801800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:174801600-174801800	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:174801600-174801800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:174801600-174802200	Enhancers	Brain Angular Gyrus	brain
20	chr1:174801800-174808400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:174802000-174804800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:174802200-174806800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:174803800-174804600	Weak transcription	Brain Anterior Caudate	brain
24	chr1:174804600-174804800	Enhancers	Brain Anterior Caudate	brain
25	chr1:174804800-174805000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr1:174804800-174805800	Weak transcription	Brain Anterior Caudate	brain
27	chr1:174805000-174805800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:174805600-174806000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:174805600-174806000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:174805600-174806000	Enhancers	Fetal Heart	heart
31	chr1:174805600-174806000	Enhancers	NHEK	skin
32	chr1:174805800-174806000	Enhancers	Brain Anterior Caudate	brain
33	chr1:174805800-174806000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr1:174805800-174806600	Enhancers	HSMM	muscle
35	chr1:174805800-174806800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:174805800-174807400	Enhancers	Brain Substantia Nigra	brain
37	chr1:174806000-174806400	Weak transcription	Brain Anterior Caudate	brain
38	chr1:174806000-174806400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:174806400-174807000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr1:174806400-174807600	Enhancers	Brain Anterior Caudate	brain
41	chr1:174806600-174806800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:174806600-174807000	Enhancers	HSMMtube	muscle
43	chr1:174806600-174808200	Weak transcription	HSMM	muscle
44	chr1:174806800-174807200	Enhancers	Brain Angular Gyrus	brain
45	chr1:174806800-174807400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:174806800-174807800	Enhancers	Brain Hippocampus Middle	brain
47	chr1:174807000-174808200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:174807000-174808200	Weak transcription	HSMMtube	muscle
49	chr1:174807000-174808400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:174807400-174807600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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