Variant report

Variant	nsv608474
Chromosome Location	chr7:139579177-139586807
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:139584778..139587285-chr7:139587311..139589455,2	K562	blood:
2	chr7:139586458..139589316-chr7:139614589..139616805,2	K562	blood:
3	chr7:139579073..139580774-chr7:139601973..139604722,2	K562	blood:
4	chr7:139582012..139584735-chr7:139587318..139591550,5	K562	blood:
5	chr7:139583885..139586800-chr7:139665999..139667812,2	K562	blood:
6	chr7:139578984..139580566-chr7:139596282..139599209,2	K562	blood:
7	chr7:139567575..139569842-chr7:139580648..139582227,2	K562	blood:
8	chr7:139570493..139572036-chr7:139580707..139582614,2	K562	blood:
9	chr7:139574689..139577649-chr7:139580530..139584809,4	K562	blood:
10	chr7:139579614..139583273-chr7:139583440..139586485,4	K562	blood:
11	chr7:139586200..139588625-chr7:139589676..139591691,2	K562	blood:
12	chr7:139584736..139586654-chr7:139664215..139666057,2	K562	blood:
13	chr7:139583780..139588622-chr7:139595731..139600740,4	K562	blood:
14	chr7:139573813..139576189-chr7:139580530..139582169,2	K562	blood:
15	chr7:139584307..139586410-chr7:139592665..139594702,2	K562	blood:
16	chr7:139584185..139586442-chr7:139614937..139617352,2	K562	blood:
17	chr7:139586016..139588957-chr7:139628556..139630300,2	K562	blood:
18	chr7:139578936..139582458-chr7:139673228..139676446,3	K562	blood:
19	chr7:139579614..139583273-chr7:139583440..139586485,4	K562	blood:
20	chr7:139581289..139583403-chr7:139592961..139595759,2	K562	blood:

No data

Extended variants
information (count: 272 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8192813	chr7:139579177-139579178	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527679787	chr7:139579182-139579183	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114720559	chr7:139579192-139579193	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564527636	chr7:139579204-139579205	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531893659	chr7:139579205-139579206	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116607884	chr7:139579209-139579210	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114092849	chr7:139579217-139579218	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76797443	chr7:139579251-139579252	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73734135	chr7:139579297-139579298	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566124465	chr7:139579313-139579314	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533690258	chr7:139579341-139579342	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202073025	chr7:139579345-139579346	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77487466	chr7:139579352-139579353	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76601863	chr7:139579371-139579372	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538013687	chr7:139579376-139579377	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561414062	chr7:139579384-139579385	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12665953	chr7:139579404-139579405	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79697243	chr7:139579412-139579413	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77942718	chr7:139579425-139579426	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376297996	chr7:139579491-139579492	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143426225	chr7:139579589-139579590	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112527388	chr7:139579598-139579599	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371332375	chr7:139579632-139579633	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142512050	chr7:139579664-139579665	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199712974	chr7:139579667-139579668	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368725298	chr7:139579675-139579676	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57972089	chr7:139579678-139579679	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150818237	chr7:139579703-139579704	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182252866	chr7:139579722-139579723	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145835280	chr7:139579743-139579744	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369180001	chr7:139579764-139579765	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564570588	chr7:139579772-139579773	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542868817	chr7:139579794-139579795	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116955336	chr7:139579826-139579827	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs187135230	chr7:139579836-139579837	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs138743010	chr7:139579839-139579840	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs142766142	chr7:139579881-139579882	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs116792917	chr7:139579887-139579888	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs374345033	chr7:139579940-139579941	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs566136970	chr7:139579941-139579942	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs527256771	chr7:139580026-139580027	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs74727001	chr7:139580040-139580041	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs76302137	chr7:139580041-139580042	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs191003536	chr7:139580051-139580052	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs556362046	chr7:139580121-139580122	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs78711467	chr7:139580126-139580127	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs374309009	chr7:139580133-139580134	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs34636031	chr7:139580161-139580162	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs117018022	chr7:139580184-139580185	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs554099197	chr7:139580208-139580209	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139567400-139598400	Weak transcription	Primary T cells from cord blood	blood
2	chr7:139570000-139587800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:139571200-139596800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:139571600-139582400	Weak transcription	Colonic Mucosa	Colon
5	chr7:139571800-139584000	Weak transcription	Fetal Kidney	kidney
6	chr7:139572000-139579800	Weak transcription	NH-A	brain
7	chr7:139573600-139586600	Weak transcription	Right Atrium	heart
8	chr7:139573800-139597600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:139576000-139580000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:139576000-139582800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:139576400-139580600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:139576400-139583600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr7:139576800-139580600	Weak transcription	Left Ventricle	heart
14	chr7:139576800-139583600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr7:139577000-139579800	Weak transcription	HSMM	muscle
16	chr7:139577000-139579800	Weak transcription	K562	blood
17	chr7:139577000-139584200	Weak transcription	Spleen	Spleen
18	chr7:139577000-139593800	Weak transcription	Lung	lung
19	chr7:139577000-139612400	Weak transcription	Thymus	Thymus
20	chr7:139577200-139583800	Weak transcription	Fetal Thymus	thymus
21	chr7:139577400-139584200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:139577600-139583800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:139577800-139579400	Enhancers	Osteobl	bone
24	chr7:139578000-139580400	Enhancers	Stomach Mucosa	stomach
25	chr7:139578000-139580400	Enhancers	NHEK	skin
26	chr7:139578200-139579600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:139578200-139579800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:139578200-139579800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:139578200-139580400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:139578600-139579200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr7:139578600-139579800	Enhancers	Duodenum Mucosa	Duodenum
32	chr7:139578600-139580200	Enhancers	HMEC	breast
33	chr7:139578600-139584800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:139578800-139580000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:139578800-139580400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:139579000-139579200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr7:139579000-139579200	Enhancers	Small Intestine	intestine
38	chr7:139579000-139579800	Enhancers	Gastric	stomach
39	chr7:139579000-139580200	Enhancers	Fetal Intestine Small	intestine
40	chr7:139579200-139579600	Weak transcription	Small Intestine	intestine
41	chr7:139579200-139581400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:139579400-139579800	Weak transcription	Osteobl	bone
43	chr7:139579600-139580200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:139579600-139580400	Enhancers	Small Intestine	intestine
45	chr7:139579800-139580200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr7:139579800-139580200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:139579800-139580200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:139579800-139580200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:139579800-139580200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:139579800-139580200	Flanking Active TSS	Duodenum Mucosa	Duodenum

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