Variant report

Variant	esv3407180
Chromosome Location	chr7:129170016-129174514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129162770..129164723-chr7:129168749..129171209,2	MCF-7	breast:
2	chr7:129166259..129168439-chr7:129170451..129172897,2	K562	blood:
3	chr7:129165126..129167759-chr7:129171397..129173054,2	K562	blood:
4	chr7:129125678..129128261-chr7:129169143..129171738,2	K562	blood:

Extended variants
information (count: 212 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538065712	chr7:129170104-129170105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11980288	chr7:129170108-129170109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556869331	chr7:129170171-129170172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75972358	chr7:129170179-129170180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34781607	chr7:129170180-129170181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577717768	chr7:129170224-129170225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373115021	chr7:129170256-129170257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150639420	chr7:129170258-129170259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553476046	chr7:129170307-129170308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572151686	chr7:129170396-129170397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542333591	chr7:129170404-129170405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561170425	chr7:129170429-129170430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62490874	chr7:129170455-129170456	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550400406	chr7:129170462-129170463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376851542	chr7:129170479-129170480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200285126	chr7:129170480-129170481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563098797	chr7:129170481-129170482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4731587	chr7:129170492-129170493	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs74513850	chr7:129170496-129170497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74669842	chr7:129170497-129170498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564790453	chr7:129170520-129170521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182934353	chr7:129170535-129170536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12706888	chr7:129170541-129170542	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73157679	chr7:129170585-129170586	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527821131	chr7:129170657-129170658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs36068714	chr7:129170695-129170696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201372652	chr7:129170697-129170698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549177551	chr7:129170712-129170713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4731588	chr7:129170723-129170724	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs10282487	chr7:129170801-129170802	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs117029518	chr7:129170907-129170908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188384638	chr7:129170916-129170917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538957393	chr7:129170918-129170919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376086135	chr7:129170930-129170931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200358913	chr7:129170947-129170948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56883187	chr7:129170973-129170974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75539228	chr7:129170980-129170981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553755990	chr7:129171041-129171042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571929812	chr7:129171045-129171046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61120971	chr7:129171084-129171085	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532505931	chr7:129171125-129171126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115309166	chr7:129171181-129171182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575835477	chr7:129171199-129171200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192902320	chr7:129171231-129171232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543172911	chr7:129171356-129171357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577498248	chr7:129171389-129171390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576755459	chr7:129171411-129171412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs712736	chr7:129171424-129171425	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560551894	chr7:129171463-129171464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61411560	chr7:129171479-129171480	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

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
Hepatocellular carcinoma	16785998	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
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129150800-129175400	Weak transcription	Right Atrium	heart
2	chr7:129162200-129172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:129163000-129172000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:129165400-129170200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr7:129165800-129172000	Weak transcription	Spleen	Spleen
6	chr7:129166800-129171600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:129167200-129171000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:129169400-129170200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr7:129169400-129171800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:129169400-129174800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:129169600-129172000	Enhancers	HMEC	breast
12	chr7:129169600-129172600	Enhancers	Placenta	Placenta
13	chr7:129169800-129172000	Enhancers	NHEK	skin
14	chr7:129169800-129172200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:129170000-129170800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:129170000-129171200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:129170000-129172000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:129170000-129172000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:129170000-129172400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:129170200-129171200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr7:129170200-129171200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:129170200-129171600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr7:129170200-129171800	Enhancers	NH-A	brain
24	chr7:129170200-129172200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:129170400-129170800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:129170400-129171400	Enhancers	HUVEC	blood vessel
27	chr7:129170600-129171400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr7:129170600-129171600	Enhancers	A549	lung
29	chr7:129170600-129171800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:129171000-129171600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr7:129171000-129172400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:129171200-129172000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:129171200-129173200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr7:129171200-129175200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:129171600-129172600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:129171600-129174000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:129171600-129174400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr7:129171800-129172200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:129171800-129172400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr7:129171800-129173600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:129171800-129174200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:129172000-129172600	Enhancers	Spleen	Spleen
43	chr7:129172000-129173200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:129172200-129172400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:129172200-129172400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:129172200-129173200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:129172200-129173800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:129172200-129175400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:129172400-129173200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:129172400-129173400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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