Variant report

Variant	nsv819865
Chromosome Location	chr7:129443525-129445605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129445172..129447751-chr7:129449224..129452042,3	K562	blood:
2	chr7:129435656..129438159-chr7:129441228..129443565,3	K562	blood:
3	chr7:129443158..129445019-chr7:129452713..129455693,2	K562	blood:
4	chr7:129445172..129447751-chr7:129449224..129452364,3	K562	blood:
5	chr7:129403968..129406043-chr7:129441740..129443595,2	K562	blood:
6	chr7:129443362..129446037-chr7:129458801..129461329,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75390056	chr7:129443554-129443555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555752698	chr7:129443561-129443562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145783732	chr7:129443581-129443582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538309880	chr7:129443648-129443649	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556512694	chr7:129443649-129443650	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578105831	chr7:129443668-129443669	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191881465	chr7:129443685-129443686	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554434093	chr7:129443686-129443687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576347593	chr7:129443727-129443728	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370438336	chr7:129443757-129443758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78168651	chr7:129443759-129443760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542218555	chr7:129443790-129443791	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560519340	chr7:129443804-129443805	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373175557	chr7:129443842-129443843	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138706504	chr7:129443851-129443852	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562124539	chr7:129443923-129443924	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564980573	chr7:129443949-129443950	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573556822	chr7:129444002-129444003	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547235774	chr7:129444047-129444048	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77520944	chr7:129444099-129444100	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142752952	chr7:129444101-129444102	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549416400	chr7:129444144-129444145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567650147	chr7:129444184-129444185	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73487552	chr7:129444187-129444188	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550244030	chr7:129444188-129444189	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148780679	chr7:129444208-129444209	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs28705185	chr7:129444261-129444262	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs202178949	chr7:129444275-129444276	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs540280548	chr7:129444298-129444299	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs75855007	chr7:129444332-129444333	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs370425978	chr7:129444363-129444364	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs375196756	chr7:129444375-129444376	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs554176090	chr7:129444396-129444397	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs532916065	chr7:129444398-129444399	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs549818411	chr7:129444399-129444400	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs575631505	chr7:129444445-129444446	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73487553	chr7:129444511-129444512	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565001509	chr7:129444512-129444513	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs150914871	chr7:129444516-129444517	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368219630	chr7:129444520-129444521	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs111865392	chr7:129444526-129444527	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs139420028	chr7:129444563-129444564	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs530052323	chr7:129444564-129444565	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs144188904	chr7:129444568-129444569	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs373181069	chr7:129444569-129444570	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs371178294	chr7:129444594-129444595	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549864386	chr7:129444606-129444607	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs72607758	chr7:129444679-129444680	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs538730183	chr7:129444705-129444706	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547600198	chr7:129444717-129444718	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129436600-129444600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:129438200-129444600	Weak transcription	Spleen	Spleen
3	chr7:129438400-129443600	Weak transcription	Gastric	stomach
4	chr7:129439400-129444600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:129441200-129445400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:129441800-129444200	Enhancers	Fetal Muscle Leg	muscle
7	chr7:129442200-129445000	Weak transcription	K562	blood
8	chr7:129442400-129444200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:129442600-129443600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:129442600-129444400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:129442600-129447600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:129442800-129443600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:129442800-129445200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:129443400-129444400	Enhancers	Pancreas	Pancrea
15	chr7:129443600-129444800	Enhancers	Fetal Muscle Trunk	muscle
16	chr7:129443600-129445600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:129443600-129445600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:129443600-129445600	Enhancers	Gastric	stomach
19	chr7:129443800-129445600	Enhancers	Placenta	Placenta
20	chr7:129444000-129445400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:129444200-129444800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr7:129444200-129445200	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr7:129444200-129445600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:129444400-129444600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:129444400-129444800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:129444600-129444800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:129444600-129444800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr7:129444600-129445400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:129444600-129445600	Enhancers	Fetal Heart	heart
30	chr7:129444600-129445600	Enhancers	Right Ventricle	heart
31	chr7:129444600-129445600	Enhancers	Hela-S3	cervix
32	chr7:129444800-129445200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr7:129444800-129445200	Enhancers	Right Atrium	heart
34	chr7:129444800-129445600	Enhancers	Left Ventricle	heart
35	chr7:129445000-129445400	Enhancers	Duodenum Mucosa	Duodenum
36	chr7:129445000-129445400	Enhancers	Stomach Mucosa	stomach
37	chr7:129445000-129445600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:129445000-129445600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:129445000-129445600	Enhancers	K562	blood
40	chr7:129445200-129445600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr7:129445200-129445600	Enhancers	Fetal Muscle Trunk	muscle
42	chr7:129445200-129445600	Enhancers	Fetal Muscle Leg	muscle
43	chr7:129445200-129464600	Weak transcription	Right Atrium	heart
44	chr7:129445400-129445600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:129445600-129449400	Weak transcription	K562	blood
46	chr7:129445600-129450000	Weak transcription	Fetal Heart	heart
47	chr7:129445600-129451200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:129445600-129464200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:129445600-129464600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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