Variant report

Variant	esv3373278
Chromosome Location	chr7:129171166-129173664
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 120 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115309166	chr7:129171181-129171182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575835477	chr7:129171199-129171200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192902320	chr7:129171231-129171232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543172911	chr7:129171356-129171357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577498248	chr7:129171389-129171390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576755459	chr7:129171411-129171412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs712736	chr7:129171424-129171425	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560551894	chr7:129171463-129171464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61411560	chr7:129171479-129171480	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547464549	chr7:129171486-129171487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62490876	chr7:129171496-129171497	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561328458	chr7:129171532-129171533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551268031	chr7:129171535-129171536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531835034	chr7:129171536-129171537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73157681	chr7:129171540-129171541	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114417401	chr7:129171577-129171578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532872495	chr7:129171608-129171609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547739118	chr7:129171627-129171628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149715017	chr7:129171660-129171661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145505009	chr7:129171668-129171669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200790882	chr7:129171672-129171673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55738605	chr7:129171678-129171679	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533664325	chr7:129171717-129171718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370190119	chr7:129171724-129171725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550535532	chr7:129171745-129171746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554253382	chr7:129171746-129171747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145579456	chr7:129171797-129171798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140352219	chr7:129171807-129171808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76677221	chr7:129171816-129171817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114434919	chr7:129171842-129171843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115509779	chr7:129171846-129171847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111880780	chr7:129171849-129171850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572416158	chr7:129171853-129171854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139622542	chr7:129171856-129171857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377489288	chr7:129171867-129171868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192520462	chr7:129171943-129171944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76279322	chr7:129171944-129171945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531868088	chr7:129171953-129171954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543917823	chr7:129171974-129171975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565493360	chr7:129171975-129171976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76796788	chr7:129171980-129171981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs712735	chr7:129171989-129171990	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs566202569	chr7:129172012-129172013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530410813	chr7:129172014-129172015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547810493	chr7:129172042-129172043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140798335	chr7:129172065-129172066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143050554	chr7:129172068-129172069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34637187	chr7:129172194-129172195	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs4731590	chr7:129172195-129172196	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534479458	chr7:129172203-129172204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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:58 , 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	chr7:129165800-129172000	Weak transcription	Spleen	Spleen
5	chr7:129166800-129171600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:129169400-129171800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:129169400-129174800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:129169600-129172000	Enhancers	HMEC	breast
9	chr7:129169600-129172600	Enhancers	Placenta	Placenta
10	chr7:129169800-129172000	Enhancers	NHEK	skin
11	chr7:129169800-129172200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:129170000-129171200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:129170000-129172000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:129170000-129172000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:129170000-129172400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:129170200-129171200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:129170200-129171200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:129170200-129171600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr7:129170200-129171800	Enhancers	NH-A	brain
20	chr7:129170200-129172200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:129170400-129171400	Enhancers	HUVEC	blood vessel
22	chr7:129170600-129171400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr7:129170600-129171600	Enhancers	A549	lung
24	chr7:129170600-129171800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:129171000-129171600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr7:129171000-129172400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:129171200-129172000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:129171200-129173200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr7:129171200-129175200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:129171600-129172600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:129171600-129174000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:129171600-129174400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr7:129171800-129172200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:129171800-129172400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:129171800-129173600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:129171800-129174200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:129172000-129172600	Enhancers	Spleen	Spleen
38	chr7:129172000-129173200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:129172200-129172400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:129172200-129172400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:129172200-129173200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:129172200-129173800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:129172200-129175400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:129172400-129173200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:129172400-129173400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:129172400-129175800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:129172600-129176000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:129172800-129174400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:129173200-129173600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:129173200-129173600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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