Variant report

Variant	nsv949647
Chromosome Location	chr7:78406281-78495913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:78405474..78407016-chr7:78415742..78418693,2	K562	blood:
2	chr7:78405474..78407016-chr7:78415742..78418693,2	K562	blood:

Extended variants
information (count: 1578 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1578 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1207896	chr7:78406281-78406282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538141371	chr7:78406292-78406293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112934048	chr7:78406344-78406345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571913352	chr7:78406367-78406368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534889894	chr7:78406397-78406398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548436082	chr7:78406405-78406406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79083804	chr7:78406409-78406410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574482082	chr7:78406441-78406442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147046447	chr7:78406480-78406481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181695421	chr7:78406522-78406523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111652412	chr7:78406546-78406547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1207897	chr7:78406580-78406581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1207898	chr7:78406603-78406604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534943509	chr7:78406623-78406624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553296365	chr7:78406631-78406632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187142670	chr7:78406640-78406641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190809820	chr7:78406644-78406645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561975997	chr7:78406664-78406665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112733119	chr7:78406670-78406671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148165598	chr7:78406701-78406702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73135599	chr7:78406711-78406712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545351394	chr7:78406748-78406749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563238866	chr7:78406758-78406759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532199966	chr7:78406820-78406821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551909696	chr7:78406858-78406859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575432998	chr7:78406904-78406905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142009237	chr7:78406939-78406940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150655855	chr7:78406967-78406968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536375260	chr7:78407011-78407012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548494080	chr7:78407067-78407068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373394798	chr7:78407069-78407070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7810385	chr7:78407126-78407127	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs116286954	chr7:78407133-78407134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117106372	chr7:78407183-78407184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35573716	chr7:78407199-78407200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397754744	chr7:78407200-78407201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539892090	chr7:78407222-78407223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139898207	chr7:78407265-78407266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556353422	chr7:78407305-78407306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566513210	chr7:78407345-78407346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535783022	chr7:78407365-78407366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543159223	chr7:78407402-78407403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555635179	chr7:78407405-78407406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141605869	chr7:78407416-78407417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544496606	chr7:78407454-78407455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375012716	chr7:78407493-78407494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558304864	chr7:78407500-78407501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146206155	chr7:78407571-78407572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545871460	chr7:78407600-78407601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180846528	chr7:78407603-78407604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Williams-beuren syndrome	16826523	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Cancer	20164919	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78402000-78406600	Weak transcription	Brain Substantia Nigra	brain
2	chr7:78402000-78406800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:78402000-78407400	Weak transcription	Brain Angular Gyrus	brain
4	chr7:78402000-78413000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:78406600-78407600	Enhancers	Brain Hippocampus Middle	brain
6	chr7:78406600-78407600	Enhancers	Brain Substantia Nigra	brain
7	chr7:78406800-78407600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:78406800-78407800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:78406800-78407800	Enhancers	Brain Anterior Caudate	brain
10	chr7:78406800-78407800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr7:78406800-78408000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:78407000-78407600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:78407000-78407600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:78407000-78407600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:78407000-78407600	Enhancers	NHLF	lung
16	chr7:78407000-78407800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:78407200-78407600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:78407200-78407800	Enhancers	Osteobl	bone
19	chr7:78407400-78407600	Enhancers	Brain Angular Gyrus	brain
20	chr7:78409000-78410000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:78409400-78410000	Active TSS	Liver	Liver
22	chr7:78409800-78410400	Active TSS	Duodenum Mucosa	Duodenum
23	chr7:78412600-78413400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:78412800-78413800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:78412800-78414000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:78413000-78413400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:78415200-78416000	Enhancers	Brain Angular Gyrus	brain
28	chr7:78416800-78418400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:78416800-78418400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:78416800-78418400	Enhancers	HMEC	breast
31	chr7:78417000-78417600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:78417000-78418400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:78417000-78418400	Enhancers	NHEK	skin
34	chr7:78417200-78418200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:78417400-78417600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:78417600-78418200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:78418200-78418400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:78418400-78422600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:78421000-78421200	Enhancers	Ovary	ovary
40	chr7:78421200-78422200	Weak transcription	Ovary	ovary
41	chr7:78421400-78422200	Active TSS	Stomach Smooth Muscle	stomach
42	chr7:78421600-78422000	Enhancers	Fetal Heart	heart
43	chr7:78421600-78422400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr7:78421600-78422600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr7:78421800-78422800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:78422000-78422600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:78422000-78423400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr7:78422200-78422600	Enhancers	Ovary	ovary
49	chr7:78422600-78422800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:78424400-78425000	Weak transcription	Psoas Muscle	Psoas

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