Variant report

Variant	nsv609070
Chromosome Location	chr7:152595852-152607732
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:152595615..152597304-chr7:152598757..152600318,2	K562	blood:
2	chr7:152590930..152593024-chr7:152603046..152604985,2	MCF-7	breast:
3	chr7:152595309..152597143-chr7:153102901..153104884,2	K562	blood:
4	chr7:152592469..152595715-chr7:152602520..152605379,3	K562	blood:
5	chr7:152596836..152599068-chr7:152599641..152602320,2	K562	blood:
6	chr7:152588507..152591156-chr7:152595233..152597420,2	K562	blood:
7	chr7:152600593..152604431-chr7:153104940..153107829,3	K562	blood:
8	chr7:152596836..152599068-chr7:152599641..152602320,2	K562	blood:
9	chr7:152595615..152597304-chr7:152598757..152600318,2	K562	blood:

No data

Extended variants
information (count: 561 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7795581	chr7:152595852-152595853	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563414054	chr7:152595886-152595887	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs191081003	chr7:152595889-152595890	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs570562058	chr7:152595970-152595971	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs552038328	chr7:152596026-152596027	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs62495011	chr7:152596060-152596061	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs62495012	chr7:152596065-152596066	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369427807	chr7:152596068-152596069	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs112404839	chr7:152596071-152596072	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs529285230	chr7:152596085-152596086	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs550654867	chr7:152596106-152596107	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs569301936	chr7:152596108-152596109	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs539928034	chr7:152596159-152596160	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs75315410	chr7:152596212-152596213	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs567074435	chr7:152596283-152596284	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs182156455	chr7:152596289-152596290	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556127013	chr7:152596290-152596291	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs116575273	chr7:152596295-152596296	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs533073946	chr7:152596314-152596315	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs145868266	chr7:152596325-152596326	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs570043477	chr7:152596436-152596437	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs575207617	chr7:152596480-152596481	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs186693256	chr7:152596515-152596516	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs545900254	chr7:152596588-152596589	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs191896709	chr7:152596619-152596620	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs77873809	chr7:152596625-152596626	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs538714903	chr7:152596631-152596632	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs540121145	chr7:152596657-152596658	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs567882590	chr7:152596685-152596686	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs75879479	chr7:152596718-152596719	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs535372726	chr7:152596767-152596768	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs114783683	chr7:152596774-152596775	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369112956	chr7:152596780-152596781	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs56306310	chr7:152596792-152596793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs115664016	chr7:152596793-152596794	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs117418724	chr7:152596815-152596816	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs116923328	chr7:152596891-152596892	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs138767082	chr7:152596892-152596893	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540193130	chr7:152596901-152596902	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs568800504	chr7:152596902-152596903	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs56296501	chr7:152596904-152596905	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555238111	chr7:152596941-152596942	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534431602	chr7:152596973-152596974	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs112805865	chr7:152596974-152596975	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs567910556	chr7:152597072-152597073	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs538546811	chr7:152597099-152597100	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs377451271	chr7:152597100-152597101	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs558654538	chr7:152597118-152597119	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs376476829	chr7:152597127-152597128	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs184142181	chr7:152597189-152597190	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Bipolar disorder	19114987	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152586400-152611400	Weak transcription	Right Atrium	heart
2	chr7:152592000-152596000	Weak transcription	Pancreas	Pancrea
3	chr7:152592200-152596000	Weak transcription	Liver	Liver
4	chr7:152592200-152597000	Weak transcription	Fetal Brain Male	brain
5	chr7:152593600-152598200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:152595000-152596400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr7:152595400-152598000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:152595600-152597600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:152595600-152600400	Enhancers	Fetal Muscle Leg	muscle
10	chr7:152595800-152597000	Weak transcription	Left Ventricle	heart
11	chr7:152595800-152597200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr7:152596000-152596200	Enhancers	Esophagus	oesophagus
13	chr7:152596000-152596200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr7:152596000-152596400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr7:152596000-152596400	Enhancers	Liver	Liver
16	chr7:152596000-152596400	Enhancers	Psoas Muscle	Psoas
17	chr7:152596000-152596600	Enhancers	HepG2	liver
18	chr7:152596000-152598000	Enhancers	Pancreas	Pancrea
19	chr7:152596200-152596400	Enhancers	Gastric	stomach
20	chr7:152596200-152596600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr7:152596200-152596600	Enhancers	HSMMtube	muscle
22	chr7:152596200-152597400	Enhancers	Fetal Brain Female	brain
23	chr7:152596200-152597600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:152596200-152597600	Enhancers	Adipose Nuclei	Adipose
25	chr7:152596200-152599200	Weak transcription	Esophagus	oesophagus
26	chr7:152596400-152596800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:152596400-152597400	Flanking Active TSS	Liver	Liver
28	chr7:152596400-152597800	Enhancers	Fetal Muscle Trunk	muscle
29	chr7:152596600-152596800	Enhancers	Fetal Kidney	kidney
30	chr7:152596600-152597400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr7:152596600-152597600	Flanking Active TSS	HepG2	liver
32	chr7:152596800-152597000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr7:152596800-152597200	Enhancers	Brain Germinal Matrix	brain
34	chr7:152597000-152597200	Enhancers	Gastric	stomach
35	chr7:152597000-152597400	Enhancers	Brain Cingulate Gyrus	brain
36	chr7:152597000-152597400	Enhancers	Fetal Brain Male	brain
37	chr7:152597000-152597600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:152597000-152597600	Enhancers	Left Ventricle	heart
39	chr7:152597200-152599000	Weak transcription	Fetal Kidney	kidney
40	chr7:152597400-152597800	Enhancers	Liver	Liver
41	chr7:152597600-152599800	Enhancers	HepG2	liver
42	chr7:152597800-152598800	Weak transcription	Liver	Liver
43	chr7:152597800-152598800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:152598000-152598400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:152598000-152607400	Weak transcription	Pancreas	Pancrea
46	chr7:152598200-152599000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:152598400-152600400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr7:152598600-152598800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
49	chr7:152598800-152599000	Enhancers	Fetal Muscle Trunk	muscle
50	chr7:152598800-152599800	Enhancers	Rectal Smooth Muscle	rectum

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