Variant report

Variant	nsv524449
Chromosome Location	chr1:161680868-161681780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161681483..161683417-chr9:111377943..111379787,2	MCF-7	breast:
2	chr1:161680752..161683037-chr1:161694761..161697715,2	MCF-7	breast:
3	chr1:161679981..161681633-chr1:161691027..161692726,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162746	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1934908	chr1:161680868-161680869	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs111841068	chr1:161680870-161680871	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374366913	chr1:161680909-161680910	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138029345	chr1:161680923-161680924	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575580699	chr1:161680924-161680925	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544495816	chr1:161680966-161680967	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146380267	chr1:161681007-161681008	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142998045	chr1:161681008-161681009	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs139913866	chr1:161681040-161681041	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376042352	chr1:161681052-161681053	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs147592382	chr1:161681057-161681058	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145767742	chr1:161681082-161681083	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs61741806	chr1:161681087-161681088	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148028138	chr1:161681104-161681105	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs199798212	chr1:161681105-161681106	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145034072	chr1:161681106-161681107	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112766190	chr1:161681124-161681125	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376754195	chr1:161681131-161681132	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371004106	chr1:161681132-161681133	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564868949	chr1:161681152-161681153	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537598966	chr1:161681158-161681159	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs142089406	chr1:161681159-161681160	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376314134	chr1:161681165-161681166	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs199766155	chr1:161681204-161681205	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138171030	chr1:161681222-161681223	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144403707	chr1:161681237-161681238	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144830049	chr1:161681238-161681239	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201524104	chr1:161681289-161681290	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199504307	chr1:161681299-161681300	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147056887	chr1:161681315-161681316	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs546438182	chr1:161681355-161681356	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566959184	chr1:161681398-161681399	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189628063	chr1:161681407-161681408	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs377138052	chr1:161681409-161681410	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192483941	chr1:161681419-161681420	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73015455	chr1:161681457-161681458	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538173565	chr1:161681517-161681518	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs17413736	chr1:161681552-161681553	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574998520	chr1:161681645-161681646	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113670241	chr1:161681650-161681651	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs1105238	chr1:161681661-161681662	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs371288852	chr1:161681679-161681680	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201477947	chr1:161681686-161681687	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573019152	chr1:161681711-161681712	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371762388	chr1:161681721-161681722	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201822431	chr1:161681731-161681732	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs140395904	chr1:161681736-161681737	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs575335846	chr1:161681737-161681738	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs34733000	chr1:161681753-161681754	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571053556	chr1:161681775-161681776	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	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
Breast cancer	21611746	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute lymphoblastic leukemia	19100363	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161676200-161692000	Weak transcription	Spleen	Spleen
2	chr1:161677800-161682400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:161679600-161681000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:161679600-161681400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
5	chr1:161680000-161682000	Genic enhancers	Primary B cells from cord blood	blood
6	chr1:161680000-161682000	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr1:161680000-161682600	Enhancers	K562	blood
8	chr1:161680200-161681000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:161680400-161683600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:161681000-161681200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:161681000-161682200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:161681400-161683000	Genic enhancers	GM12878-XiMat	blood

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