Variant report

Variant	nsv819594
Chromosome Location	chr7:12275789-12276168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564964192	chr7:12275797-12275798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1060700	chr7:12275818-12275819	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs374170620	chr7:12275832-12275833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188441815	chr7:12275842-12275843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73288318	chr7:12275862-12275863	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546572479	chr7:12275903-12275904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112936345	chr7:12275923-12275924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565911258	chr7:12275935-12275936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532891312	chr7:12275955-12275956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552814542	chr7:12275967-12275968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552746853	chr7:12275982-12275983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569372716	chr7:12276002-12276003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1468802	chr7:12276011-12276012	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs548404830	chr7:12276014-12276015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568171267	chr7:12276018-12276019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2160268	chr7:12276025-12276026	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2160267	chr7:12276034-12276035	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs1468801	chr7:12276045-12276046	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs556124167	chr7:12276064-12276065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558785964	chr7:12276072-12276073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192719289	chr7:12276118-12276119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561984992	chr7:12276131-12276132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12252000-12277600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:12252000-12278200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:12252000-12280000	Weak transcription	Colonic Mucosa	Colon
4	chr7:12252000-12280000	Weak transcription	Right Ventricle	heart
5	chr7:12252000-12285400	Weak transcription	Spleen	Spleen
6	chr7:12252200-12279200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:12252200-12279400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:12252400-12277200	Weak transcription	Fetal Brain Male	brain
9	chr7:12252400-12278600	Weak transcription	NHEK	skin
10	chr7:12252400-12281600	Weak transcription	HSMMtube	muscle
11	chr7:12252400-12284000	Weak transcription	Fetal Intestine Small	intestine
12	chr7:12252600-12278200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:12252600-12279600	Weak transcription	Brain Angular Gyrus	brain
14	chr7:12252800-12279000	Weak transcription	Brain Substantia Nigra	brain
15	chr7:12254000-12279400	Strong transcription	Placenta	Placenta
16	chr7:12255200-12279000	Strong transcription	Liver	Liver
17	chr7:12256400-12279400	Weak transcription	Psoas Muscle	Psoas
18	chr7:12256600-12279600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:12257200-12278400	Weak transcription	Fetal Brain Female	brain
20	chr7:12259000-12277400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:12259000-12278800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:12259200-12277200	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:12259800-12283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:12260200-12275800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr7:12260400-12279400	Weak transcription	NHDF-Ad	bronchial
26	chr7:12261400-12277800	Weak transcription	Fetal Kidney	kidney
27	chr7:12261600-12278000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:12263200-12279400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr7:12264200-12277800	Weak transcription	NH-A	brain
30	chr7:12264200-12279800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:12264200-12280000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:12264200-12280000	Weak transcription	Ovary	ovary
33	chr7:12264400-12279400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:12264600-12277800	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:12264600-12279600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:12264600-12279600	Weak transcription	Fetal Thymus	thymus
37	chr7:12264600-12279800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:12265600-12277400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:12266200-12278000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:12266400-12279400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:12266400-12279600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr7:12266400-12279800	Weak transcription	Small Intestine	intestine
43	chr7:12267000-12279000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:12267600-12276800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:12269000-12277000	Weak transcription	Primary T cells from cord blood	blood
46	chr7:12269800-12277000	Weak transcription	Fetal Lung	lung
47	chr7:12270000-12277200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:12270000-12277600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:12270000-12277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:12270000-12277800	Weak transcription	Left Ventricle	heart

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