Variant report

Variant	nsv825154
Chromosome Location	chr1:161344705-161346698
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161179622..161180263-chr1:161343895..161344809,3	K562	blood:
2	chr1:161166242..161168991-chr1:161344064..161345577,2	MCF-7	breast:
3	chr1:161345136..161348126-chr1:161349827..161352612,2	K562	blood:
4	chr1:161197030..161197783-chr1:161344152..161344865,2	MCF-7	breast:
5	chr1:161179622..161180241-chr1:161344290..161344851,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SDHC-2	chr1:161344552-161345130	ENSG00000273075.1

No data

Variant related genes	Relation type
ENSG00000158864	chromatin interactions
ENSG00000158882	chromatin interactions
ENSG00000158859	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57858140	chr1:161344741-161344742	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183498658	chr1:161344817-161344818	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs187171550	chr1:161344820-161344821	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs371128318	chr1:161344825-161344826	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs368828015	chr1:161344829-161344830	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs531872457	chr1:161344834-161344835	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs371367943	chr1:161344888-161344889	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs191185849	chr1:161345017-161345018	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs539894271	chr1:161345022-161345023	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs527698705	chr1:161345036-161345037	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs551220533	chr1:161345041-161345042	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs182600945	chr1:161345074-161345075	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs138228493	chr1:161345194-161345195	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs367890503	chr1:161345198-161345199	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs532533336	chr1:161345203-161345204	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375334379	chr1:161345204-161345205	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs187676696	chr1:161345208-161345209	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs79805434	chr1:161345230-161345231	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
19	rs76052669	chr1:161345238-161345239	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
20	rs372685440	chr1:161345304-161345305	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113881161	chr1:161345343-161345344	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs7542784	chr1:161345367-161345368	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs533565628	chr1:161345405-161345406	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs142441751	chr1:161345406-161345407	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs577103281	chr1:161345428-161345429	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs57270150	chr1:161345429-161345430	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs191764964	chr1:161345465-161345466	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs182405389	chr1:161345472-161345473	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs79308290	chr1:161345493-161345494	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs57007882	chr1:161345518-161345519	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs570981615	chr1:161345587-161345588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541429469	chr1:161345736-161345737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187479459	chr1:161345804-161345805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112761856	chr1:161345826-161345827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533706105	chr1:161345847-161345848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114196498	chr1:161345900-161345901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563580789	chr1:161345958-161345959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529453733	chr1:161345963-161345964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547834669	chr1:161345969-161345970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567831830	chr1:161345972-161345973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192088253	chr1:161346032-161346033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547397984	chr1:161346090-161346091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570654753	chr1:161346133-161346134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373033843	chr1:161346152-161346153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558751541	chr1:161346205-161346206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539765426	chr1:161346216-161346217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528524962	chr1:161346256-161346257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202068553	chr1:161346265-161346266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376302180	chr1:161346272-161346273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71090386	chr1:161346273-161346274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161321800-161348800	Weak transcription	Gastric	stomach
2	chr1:161327400-161352600	Weak transcription	Lung	lung
3	chr1:161328400-161359000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:161328600-161359000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:161335000-161356000	Weak transcription	K562	blood
6	chr1:161336400-161348800	Weak transcription	Placenta	Placenta
7	chr1:161336600-161351600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:161336600-161352200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:161336600-161352200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:161336800-161348600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:161336800-161348800	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:161336800-161348800	Weak transcription	Fetal Thymus	thymus
13	chr1:161336800-161351600	Weak transcription	NHEK	skin
14	chr1:161337800-161348800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:161337800-161356200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:161338000-161346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:161338000-161351600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:161338000-161356000	Weak transcription	GM12878-XiMat	blood
19	chr1:161338200-161348600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:161338600-161346800	Weak transcription	HepG2	liver
21	chr1:161344400-161348800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:161344600-161348800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:161346400-161347000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:161346400-161347000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:161346400-161348200	Enhancers	A549	lung
26	chr1:161346600-161347000	Enhancers	Muscle Satellite Cultured Cells	--

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