Variant report

Variant	nsv981617
Chromosome Location	chr7:152517347-152517945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373528674	chr7:152517355-152517356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527342513	chr7:152517366-152517367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375663346	chr7:152517428-152517429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543090720	chr7:152517440-152517441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200919409	chr7:152517454-152517455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147919962	chr7:152517496-152517497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561424266	chr7:152517528-152517529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531670047	chr7:152517538-152517539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147579589	chr7:152517547-152517548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188338574	chr7:152517551-152517552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114295156	chr7:152517552-152517553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201127372	chr7:152517560-152517561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565306479	chr7:152517578-152517579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532581346	chr7:152517595-152517596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547667052	chr7:152517611-152517612	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114707951	chr7:152517622-152517623	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527284397	chr7:152517629-152517630	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548664069	chr7:152517630-152517631	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567258193	chr7:152517636-152517637	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537516372	chr7:152517685-152517686	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556239545	chr7:152517696-152517697	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4071561	chr7:152517724-152517725	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538863858	chr7:152517727-152517728	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554105125	chr7:152517762-152517763	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376379167	chr7:152517770-152517771	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572408993	chr7:152517790-152517791	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542916016	chr7:152517828-152517829	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10246181	chr7:152517854-152517855	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370980243	chr7:152517855-152517856	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138150264	chr7:152517877-152517878	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374592550	chr7:152517889-152517890	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs59626839	chr7:152517894-152517895	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs71537944	chr7:152517897-152517898	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371329566	chr7:152517919-152517920	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152482800-152518600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:152488400-152517800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:152488800-152545600	Weak transcription	Primary T cells from cord blood	blood
4	chr7:152489800-152568800	Weak transcription	Hela-S3	cervix
5	chr7:152491200-152517600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:152491600-152520200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr7:152493000-152518600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:152493200-152517600	Weak transcription	Pancreas	Pancrea
9	chr7:152493200-152518600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:152494400-152517400	Weak transcription	Lung	lung
11	chr7:152494800-152517600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:152497000-152517600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:152497600-152549200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:152498400-152517600	Weak transcription	Right Ventricle	heart
15	chr7:152498400-152528200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr7:152498400-152556000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:152498400-152559200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:152498600-152520000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:152498600-152526800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:152498800-152517600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:152498800-152518600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:152498800-152518800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:152498800-152520000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:152498800-152520600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:152498800-152539600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:152499000-152517800	Weak transcription	Ovary	ovary
27	chr7:152499200-152546800	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:152499800-152520200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:152500600-152520000	Weak transcription	Fetal Intestine Large	intestine
30	chr7:152500600-152556000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr7:152500800-152517400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:152501200-152517600	Weak transcription	Aorta	Aorta
33	chr7:152501200-152517800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:152501400-152517600	Weak transcription	Fetal Stomach	stomach
35	chr7:152501400-152550400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:152501600-152517600	Weak transcription	Brain Anterior Caudate	brain
37	chr7:152501600-152518600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:152502000-152517600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:152502000-152539200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:152504000-152555000	Weak transcription	K562	blood
41	chr7:152508400-152549200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:152509200-152551200	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:152509600-152520600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:152510200-152534000	Weak transcription	Fetal Thymus	thymus
45	chr7:152510200-152569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:152511000-152518800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:152511200-152528000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:152511600-152522800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:152511600-152526600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr7:152513000-152520400	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links