Variant report

Variant	nsv889148
Chromosome Location	chr7:125131542-125231999
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:125205327..125207901-chr7:125208820..125211664,2	K562	blood:
2	chr7:125218658..125220340-chr7:125222287..125223970,2	K562	blood:
3	chr7:125218658..125220340-chr7:125222287..125223970,2	K562	blood:
4	chr7:125205327..125207901-chr7:125208820..125211664,2	K562	blood:
5	chr7:124846681..124848535-chr7:125206338..125208006,2	K562	blood:
6	chr7:125126724..125128959-chr7:125132341..125134111,2	K562	blood:
7	chr7:125203772..125205320-chr7:125225530..125228131,2	K562	blood:
8	chr7:125204110..125205826-chr7:125284105..125286281,2	K562	blood:
9	chr7:125125355..125128224-chr7:125131443..125135163,4	K562	blood:
10	chr7:125190321..125191930-chr7:125194449..125196273,2	K562	blood:
11	chr7:125226088..125228401-chr7:125230345..125233728,3	K562	blood:
12	chr7:125226088..125228401-chr7:125230345..125233728,3	K562	blood:
13	chr7:125172761..125175135-chr7:125186431..125188601,2	K562	blood:
14	chr7:125190321..125191930-chr7:125194449..125196273,2	K562	blood:
15	chr7:125203772..125205320-chr7:125225530..125228131,2	K562	blood:
16	chr7:125172761..125175135-chr7:125186431..125188601,2	K562	blood:

No data

Extended variants
information (count: 1217 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1217 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2141016	chr7:125143229-125143230	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75476861	chr7:125143281-125143282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200067657	chr7:125143331-125143332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs398111837	chr7:125143339-125143340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77933709	chr7:125143362-125143363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550242098	chr7:125143396-125143397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371912618	chr7:125143431-125143432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186601387	chr7:125143467-125143468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535475774	chr7:125143470-125143471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12534522	chr7:125143477-125143478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77307262	chr7:125143481-125143482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565670174	chr7:125143497-125143498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534581502	chr7:125143509-125143510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12537236	chr7:125143580-125143581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145865622	chr7:125143635-125143636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191474575	chr7:125143640-125143641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543212653	chr7:125143700-125143701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73432114	chr7:125143720-125143721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs573752167	chr7:125143742-125143743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62479888	chr7:125143755-125143756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185526262	chr7:125143792-125143793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561166798	chr7:125143806-125143807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148992344	chr7:125143872-125143873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114829546	chr7:125143910-125143911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372839171	chr7:125143944-125143945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143755570	chr7:125143967-125143968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533584821	chr7:125144003-125144004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550075301	chr7:125144012-125144013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs137951610	chr7:125144014-125144015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529330079	chr7:125144054-125144055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377193567	chr7:125144063-125144064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548991508	chr7:125144080-125144081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565731819	chr7:125144101-125144102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142427815	chr7:125144120-125144121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551663720	chr7:125144141-125144142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571405546	chr7:125144150-125144151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190484796	chr7:125144179-125144180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144613398	chr7:125144214-125144215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548259376	chr7:125144241-125144242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536331953	chr7:125144295-125144296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553052690	chr7:125144322-125144323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182150338	chr7:125144419-125144420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs59777535	chr7:125144456-125144457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs564808083	chr7:125144461-125144462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35403491	chr7:125144483-125144484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562751379	chr7:125144501-125144502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563566733	chr7:125144534-125144535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530980421	chr7:125144551-125144552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34954216	chr7:125144563-125144564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529958601	chr7:125144573-125144574	Weak transcription Enhancers	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
Autism	22495311	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	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
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125143200-125147200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:125143800-125144000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:125143800-125145200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:125144000-125144600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:125144000-125145000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:125144200-125146800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:125144600-125146400	Enhancers	K562	blood
8	chr7:125144600-125146600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:125144600-125146600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:125144600-125147000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:125144600-125147200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:125144800-125145200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:125144800-125146600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr7:125145000-125145400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:125145000-125145400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:125145000-125146000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:125145000-125146400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:125145000-125146600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:125145000-125146600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:125145000-125146800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:125145200-125145600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:125145400-125145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:125145400-125146600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:125145600-125146800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:125145800-125146600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:125145800-125146800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:125146200-125146600	Enhancers	Fetal Muscle Leg	muscle
28	chr7:125150200-125150600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:125150400-125152200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:125150600-125151600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:125151400-125152000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:125151600-125152000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:125156200-125156600	Enhancers	Fetal Muscle Leg	muscle
34	chr7:125190800-125191200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:125191000-125191200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:125191000-125191200	ZNF genes & repeats	Right Atrium	heart
37	chr7:125191200-125211000	Weak transcription	Right Atrium	heart
38	chr7:125196000-125196400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:125196400-125196600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:125196600-125197800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:125197800-125198000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:125199600-125200200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:125199600-125201000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:125200200-125200400	Enhancers	Brain Cingulate Gyrus	brain
45	chr7:125200200-125200600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:125200200-125201200	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:125200200-125202200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr7:125200400-125200600	Enhancers	Brain Angular Gyrus	brain
49	chr7:125200400-125200600	Enhancers	Brain Substantia Nigra	brain
50	chr7:125200600-125201000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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