Variant report

Variant	nsv539209
Chromosome Location	chr7:152546243-152676615
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:61)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:152659441..152660977-chr7:152662861..152665270,2	K562	blood:
2	chr7:152592469..152595715-chr7:152602520..152605379,3	K562	blood:
3	chr7:152659441..152660977-chr7:152662861..152665270,2	K562	blood:
4	chr7:152595615..152597304-chr7:152598757..152600318,2	K562	blood:
5	chr7:152556489..152557016-chr7:152591189..152592154,2	K562	blood:
6	chr7:152579764..152582618-chr7:152582965..152586038,3	K562	blood:
7	chr7:152630894..152632696-chr7:153103935..153106331,2	K562	blood:
8	chr7:152549163..152550690-chr7:152554091..152556185,2	MCF-7	breast:
9	chr7:152653005..152654913-chr7:152659198..152661579,2	MCF-7	breast:
10	chr7:152595615..152597304-chr7:152598757..152600318,2	K562	blood:
11	chr7:152670553..152673315-chr7:152674635..152676397,2	K562	blood:
12	chr7:152557682..152560578-chr7:152560723..152562982,2	K562	blood:
13	chr7:152567221..152568854-chr7:152821734..152824144,2	K562	blood:
14	chr7:152669203..152673315-chr7:152673536..152677297,4	K562	blood:
15	chr7:152547731..152550173-chr7:152550800..152553680,2	K562	blood:
16	chr7:152557682..152560578-chr7:152560723..152562982,2	K562	blood:
17	chr7:152588968..152591150-chr7:152591606..152593343,2	MCF-7	breast:
18	chr7:152615302..152618070-chr7:152618981..152621155,2	K562	blood:
19	chr7:152670553..152673315-chr7:152674635..152676397,2	K562	blood:
20	chr7:152588549..152590178-chr7:152590291..152592106,2	K562	blood:
21	chr7:152676002..152677639-chr7:153101929..153104629,2	K562	blood:
22	chr7:152663494..152665714-chr7:152667528..152669536,2	MCF-7	breast:
23	chr7:152550006..152552312-chr7:152554663..152556765,3	K562	blood:
24	chr7:152549163..152550690-chr7:152554091..152556185,2	MCF-7	breast:
25	chr7:152591184..152592070-chr7:153078454..153079236,2	MCF-7	breast:
26	chr7:152595309..152597143-chr7:153102901..153104884,2	K562	blood:
27	chr7:152592469..152595715-chr7:152602520..152605379,3	K562	blood:
28	chr7:152592588..152594175-chr7:153102302..153103832,2	K562	blood:
29	chr7:152633416..152636337-chr7:152638112..152639787,2	MCF-7	breast:
30	chr7:152596836..152599068-chr7:152599641..152602320,2	K562	blood:
31	chr7:152616673..152619076-chr7:152800039..152802738,2	K562	blood:
32	chr7:152663494..152665714-chr7:152667528..152669536,2	MCF-7	breast:
33	chr7:152549705..152553175-chr7:152560655..152563362,3	K562	blood:
34	chr7:152633416..152636337-chr7:152638112..152639787,2	MCF-7	breast:
35	chr7:152588507..152591156-chr7:152595233..152597420,2	K562	blood:
36	chr7:152589505..152592233-chr7:153104803..153106680,2	K562	blood:
37	chr7:152653005..152654913-chr7:152659198..152661579,2	MCF-7	breast:
38	chr7:152561372..152563644-chr7:152566422..152569176,2	K562	blood:
39	chr7:152556489..152557016-chr7:152591189..152592154,2	K562	blood:
40	chr7:152588507..152591156-chr7:152595233..152597420,2	K562	blood:
41	chr7:152579764..152582618-chr7:152582965..152586038,3	K562	blood:
42	chr7:152561372..152563644-chr7:152566422..152569176,2	K562	blood:
43	chr7:152591605..152592124-chr7:153532194..153532836,2	MCF-7	breast:
44	chr7:152591144..152592074-chr7:152656414..152657185,2	MCF-7	breast:
45	chr7:152669203..152673315-chr7:152673536..152677297,4	K562	blood:
46	chr7:152591144..152592074-chr7:152656414..152657185,2	MCF-7	breast:
47	chr7:26241300..26241961-chr7:152626602..152627526,2	Hela-S3	cervix:
48	chr7:152615135..152617990-chr7:153104764..153107812,3	K562	blood:
49	chr7:152676162..152677811-chr7:152738455..152740400,2	MCF-7	breast:
50	chr7:152556277..152558031-chr7:152558096..152559676,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR3B-4	chr7:152583184-152583297	NONHSAT124285
2	lnc-ACTR3B-4	chr7:152584608-152584832	NONHSAT124285
3	lnc-ACTR3B-3	chr7:152559223-152559315	NONHSAT124284
4	lnc-ACTR3B-3	chr7:152562181-152562648	NONHSAT124284

No data

Variant related genes	Relation type
ENSG00000122565	chromatin interactions

Extended variants
information (count: 5273 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:5273 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552913321	chr7:152546255-152546256	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80210644	chr7:152546287-152546288	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556772425	chr7:152546322-152546323	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557299286	chr7:152546362-152546363	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575752596	chr7:152546370-152546371	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546307028	chr7:152546385-152546386	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187738626	chr7:152546392-152546393	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551419544	chr7:152546409-152546410	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558240004	chr7:152546410-152546411	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116134296	chr7:152546414-152546415	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368319317	chr7:152546434-152546435	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562161264	chr7:152546437-152546438	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529578281	chr7:152546449-152546450	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191411577	chr7:152546463-152546464	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562943461	chr7:152546464-152546465	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373135843	chr7:152546512-152546513	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576106523	chr7:152546630-152546631	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7794914	chr7:152546640-152546641	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140863328	chr7:152546650-152546651	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555141400	chr7:152546691-152546692	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528190336	chr7:152546712-152546713	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184181684	chr7:152546755-152546756	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374574251	chr7:152546759-152546760	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558766374	chr7:152546802-152546803	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557012994	chr7:152546808-152546809	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77537244	chr7:152546884-152546885	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573641008	chr7:152546905-152546906	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543600844	chr7:152546915-152546916	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188511120	chr7:152546916-152546917	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538130288	chr7:152546930-152546931	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573343590	chr7:152546951-152546952	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540408678	chr7:152546967-152546968	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555909172	chr7:152546983-152546984	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192207355	chr7:152547004-152547005	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12533407	chr7:152547005-152547006	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs375704827	chr7:152547048-152547049	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142986690	chr7:152547057-152547058	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115004118	chr7:152547108-152547109	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370988422	chr7:152547128-152547129	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545357701	chr7:152547174-152547175	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563773123	chr7:152547245-152547246	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115775599	chr7:152547275-152547276	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185051456	chr7:152547291-152547292	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111572771	chr7:152547345-152547346	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530247462	chr7:152547355-152547356	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568233928	chr7:152547429-152547430	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529037683	chr7:152547439-152547440	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545997033	chr7:152547442-152547443	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550797006	chr7:152547472-152547473	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4146917	chr7:152547575-152547576	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:959 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152489800-152568800	Weak transcription	Hela-S3	cervix
2	chr7:152497600-152549200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:152498400-152556000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:152498400-152559200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:152499200-152546800	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:152500600-152556000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr7:152501400-152550400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:152504000-152555000	Weak transcription	K562	blood
9	chr7:152508400-152549200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:152509200-152551200	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:152510200-152569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:152513400-152549200	Weak transcription	Placenta	Placenta
13	chr7:152513400-152550400	Weak transcription	Esophagus	oesophagus
14	chr7:152514400-152549400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:152514400-152554800	Weak transcription	Osteobl	bone
16	chr7:152514800-152555000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:152516800-152547200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:152518000-152548200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:152518000-152548400	Weak transcription	Pancreas	Pancrea
20	chr7:152518000-152548800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:152518000-152550400	Weak transcription	Right Ventricle	heart
22	chr7:152518000-152558800	Weak transcription	Dnd41	blood
23	chr7:152518200-152548800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:152518400-152546600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:152518400-152550400	Weak transcription	Liver	Liver
26	chr7:152518600-152551400	Weak transcription	HSMMtube	muscle
27	chr7:152518800-152548400	Weak transcription	Left Ventricle	heart
28	chr7:152519000-152548600	Weak transcription	Gastric	stomach
29	chr7:152519000-152548800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:152519200-152549400	Weak transcription	Adipose Nuclei	Adipose
31	chr7:152519400-152550400	Weak transcription	Ovary	ovary
32	chr7:152519600-152547000	Weak transcription	Fetal Stomach	stomach
33	chr7:152519600-152548400	Weak transcription	Fetal Intestine Small	intestine
34	chr7:152519600-152549000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:152519600-152549200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:152520000-152547000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:152520600-152549200	Weak transcription	Fetal Intestine Large	intestine
38	chr7:152521000-152546400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:152523000-152546800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:152527600-152564800	Weak transcription	A549	lung
41	chr7:152528600-152551400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:152529000-152548400	Weak transcription	Lung	lung
43	chr7:152530600-152554800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:152534400-152548800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr7:152534800-152554600	Weak transcription	Fetal Thymus	thymus
46	chr7:152534800-152557800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:152536400-152548200	Weak transcription	Aorta	Aorta
48	chr7:152536800-152553400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:152538200-152556600	Weak transcription	Primary B cells from cord blood	blood
50	chr7:152538400-152559200	Weak transcription	Primary hematopoietic stem cells	blood

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