Variant report

Variant	nsv872466
Chromosome Location	chr1:155259025-155269991
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:32)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155263792..155265801-chr1:155268353..155270407,2	K562	blood:
2	chr1:155259970..155262506-chr1:155264219..155265784,2	MCF-7	breast:
3	chr1:155261026..155263305-chr1:155270752..155272531,2	K562	blood:
4	chr1:155250717..155253672-chr1:155259290..155261017,2	K562	blood:
5	chr1:155258490..155260000-chr1:155271609..155274167,2	K562	blood:
6	chr1:155260049..155265292-chr1:155266559..155270522,5	K562	blood:
7	chr1:155265436..155269305-chr1:155269366..155271245,3	K562	blood:
8	chr1:155261117..155264004-chr1:155277463..155281311,3	MCF-7	breast:
9	chr1:155212781..155214911-chr1:155269991..155272165,2	K562	blood:
10	chr1:155259968..155262452-chr1:155264201..155267047,3	MCF-7	breast:
11	chr1:155260167..155262526-chr1:155270159..155272252,2	K562	blood:
12	chr1:155263792..155265801-chr1:155268353..155270407,2	K562	blood:
13	chr1:155220352..155221151-chr1:155266524..155267483,2	K562	blood:
14	chr1:155242307..155246012-chr1:155257653..155260333,3	MCF-7	breast:
15	chr1:155259970..155262506-chr1:155264219..155265784,2	MCF-7	breast:
16	chr1:155256966..155259263-chr1:155261793..155263472,2	MCF-7	breast:
17	chr1:155245531..155248491-chr1:155261533..155265348,4	MCF-7	breast:
18	chr1:155220670..155222238-chr1:155260191..155263130,2	MCF-7	breast:
19	chr1:155260049..155265292-chr1:155266559..155270522,5	K562	blood:
20	chr1:155258950..155260585-chr1:155268243..155269943,2	MCF-7	breast:
21	chr1:155257657..155259293-chr1:155291088..155293098,2	MCF-7	breast:
22	chr1:155266873..155268952-chr1:155269745..155272429,2	K562	blood:
23	chr1:155258950..155260585-chr1:155268243..155269943,2	MCF-7	breast:
24	chr1:155264765..155268361-chr1:155281187..155284828,3	K562	blood:
25	chr1:155265913..155268207-chr1:155292822..155295763,2	MCF-7	breast:
26	chr1:155251831..155255812-chr1:155268570..155273078,4	K562	blood:
27	chr1:155259968..155262452-chr1:155264201..155267047,3	MCF-7	breast:
28	chr1:155264416..155266648-chr1:155270468..155272044,2	K562	blood:
29	chr1:155265219..155266725-chr1:155277054..155279791,2	K562	blood:
30	chr1:155230119..155233614-chr1:155262983..155268235,5	MCF-7	breast:
31	chr1:155251967..155253659-chr1:155265163..155267327,2	K562	blood:
32	chr1:155261455..155264148-chr1:155268677..155271659,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FDPS-3	chr1:155259182-155259309	NONHSAT006723

No data

Variant related genes	Relation type
ENSG00000160752	chromatin interactions
ENSG00000116521	chromatin interactions
ENSG00000176444	chromatin interactions
ENSG00000177628	chromatin interactions
ENSG00000143630	chromatin interactions
ENSG00000225855	chromatin interactions
ENSG00000160753	chromatin interactions
ENSG00000160767	chromatin interactions
ENSG00000143627	chromatin interactions

Extended variants
information (count: 482 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:482 , 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	rs8177996	chr1:155259025-155259026	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528228501	chr1:155259147-155259148	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs185729762	chr1:155259214-155259215	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs559809916	chr1:155259296-155259297	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs528740550	chr1:155259322-155259323	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs8847	chr1:155259323-155259324	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs41264939	chr1:155259470-155259471	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568486469	chr1:155259529-155259530	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370142273	chr1:155259568-155259569	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs180944719	chr1:155259628-155259629	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs539430936	chr1:155259641-155259642	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs554196155	chr1:155259874-155259875	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs8177995	chr1:155259898-155259899	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs539994036	chr1:155260013-155260014	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs556763356	chr1:155260015-155260016	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs932972	chr1:155260096-155260097	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs35957800	chr1:155260153-155260154	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs577392110	chr1:155260171-155260172	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs186058494	chr1:155260282-155260283	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs563189341	chr1:155260285-155260286	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs530076782	chr1:155260291-155260292	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs542249964	chr1:155260301-155260302	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs569710209	chr1:155260306-155260307	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs374751259	chr1:155260348-155260349	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs8177994	chr1:155260349-155260350	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs1052177	chr1:155260350-155260351	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs368150636	chr1:155260360-155260361	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs552203379	chr1:155260378-155260379	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs61755431	chr1:155260382-155260383	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs1052176	chr1:155260383-155260384	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs140859641	chr1:155260402-155260403	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs532230312	chr1:155260413-155260414	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs370938255	chr1:155260415-155260416	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs370316462	chr1:155260434-155260435	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs190966689	chr1:155260443-155260444	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs375525211	chr1:155260448-155260449	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs374329329	chr1:155260475-155260476	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs376416618	chr1:155260504-155260505	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs199991834	chr1:155260508-155260509	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs536191763	chr1:155260512-155260513	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs547772674	chr1:155260562-155260563	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs566378641	chr1:155260564-155260565	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs533860226	chr1:155260584-155260585	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs138436282	chr1:155260596-155260597	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs184056450	chr1:155260618-155260619	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs143970593	chr1:155260625-155260626	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs556850972	chr1:155260631-155260632	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs531752956	chr1:155260649-155260650	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs548368240	chr1:155260652-155260653	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs187375238	chr1:155260669-155260670	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Breast cancer	17393978	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
Esophageal squamous carcinoma	18350619	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155248200-155260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:155248200-155261200	Weak transcription	Lung	lung
3	chr1:155248200-155262800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:155248400-155259200	Weak transcription	HSMMtube	muscle
5	chr1:155248400-155259600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:155248800-155259400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:155248800-155262000	Weak transcription	Fetal Lung	lung
8	chr1:155248800-155264800	Weak transcription	Pancreas	Pancrea
9	chr1:155249000-155262800	Weak transcription	Colonic Mucosa	Colon
10	chr1:155249200-155259400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:155249200-155260800	Weak transcription	NHEK	skin
12	chr1:155249200-155261200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:155249400-155263200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:155249400-155264800	Weak transcription	Brain Angular Gyrus	brain
15	chr1:155249600-155259800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:155249600-155260200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:155249600-155260800	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:155249600-155261600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:155249600-155262600	Weak transcription	Fetal Brain Male	brain
20	chr1:155251000-155260200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:155251600-155260200	Strong transcription	Fetal Stomach	stomach
22	chr1:155251800-155260400	Strong transcription	Brain Germinal Matrix	brain
23	chr1:155252400-155261000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:155252600-155261000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:155252600-155262600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:155253000-155262800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:155253200-155261200	Weak transcription	K562	blood
28	chr1:155253800-155263000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:155254200-155259800	Weak transcription	Fetal Kidney	kidney
30	chr1:155254600-155260200	Weak transcription	Dnd41	blood
31	chr1:155254600-155260400	Strong transcription	Fetal Brain Female	brain
32	chr1:155254600-155263200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:155254600-155264400	Weak transcription	Spleen	Spleen
34	chr1:155254800-155259400	Weak transcription	Brain Anterior Caudate	brain
35	chr1:155254800-155259800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:155255200-155263200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:155255400-155263000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:155255600-155261800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:155256400-155261600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:155257000-155262800	Strong transcription	Fetal Intestine Small	intestine
41	chr1:155257800-155262600	Weak transcription	HepG2	liver
42	chr1:155258200-155263000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:155258400-155259800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:155258400-155264600	Weak transcription	Esophagus	oesophagus
45	chr1:155258600-155260400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:155258600-155261800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:155258600-155264400	Weak transcription	Gastric	stomach
48	chr1:155258800-155260400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:155258800-155261000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:155258800-155261200	Weak transcription	Ovary	ovary

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