Variant report

Variant	nsv1023232
Chromosome Location	chr7:119570263-119629936
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:87)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:87 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:119578083..119580196-chr7:119586572..119589192,2	K562	blood:
2	chr7:119570469..119574295-chr7:119575625..119578871,3	K562	blood:
3	chr7:119623792..119625656-chr7:119627797..119629586,2	K562	blood:
4	chr7:119596097..119601852-chr7:119602330..119605666,5	K562	blood:
5	chr7:119569986..119573012-chr7:119573015..119575598,3	K562	blood:
6	chr7:119570545..119573012-chr7:119573015..119575598,2	K562	blood:
7	chr7:119562172..119563909-chr7:119568834..119570376,2	K562	blood:
8	chr7:119578083..119580196-chr7:119586572..119589192,2	K562	blood:
9	chr7:119604091..119606659-chr7:119609179..119612506,3	K562	blood:
10	chr7:119545841..119548270-chr7:119587214..119590223,3	K562	blood:
11	chr7:119545952..119548179-chr7:119593312..119595306,2	K562	blood:
12	chr7:119584419..119586838-chr7:119603002..119604856,2	K562	blood:
13	chr7:119613490..119615786-chr7:119615984..119618281,3	K562	blood:
14	chr7:119570997..119574569-chr7:119582922..119586334,5	K562	blood:
15	chr7:119590351..119592523-chr7:119610438..119612381,2	K562	blood:
16	chr7:119573362..119575942-chr7:119596349..119600152,3	K562	blood:
17	chr7:119570469..119572093-chr7:119577244..119578871,2	K562	blood:
18	chr7:119569917..119573770-chr7:119586780..119589332,3	K562	blood:
19	chr7:119544225..119546800-chr7:119608946..119611395,2	K562	blood:
20	chr7:119570997..119574569-chr7:119582922..119586334,5	K562	blood:
21	chr7:119605463..119608341-chr7:119623284..119625635,2	K562	blood:
22	chr7:119571307..119574427-chr7:119582065..119585012,4	K562	blood:
23	chr7:119544987..119547805-chr7:119577391..119580001,2	K562	blood:
24	chr7:119575213..119576061-chr7:119729704..119730242,2	MCF-7	breast:
25	chr7:119592860..119595657-chr7:119604147..119608281,6	K562	blood:
26	chr7:119594641..119599063-chr7:119599275..119601348,3	K562	blood:
27	chr7:119546333..119548677-chr7:119583508..119586175,2	K562	blood:
28	chr7:119592860..119595657-chr7:119604147..119608281,6	K562	blood:
29	chr7:119573034..119574677-chr7:119575228..119577665,3	K562	blood:
30	chr7:119599851..119601809-chr7:119612155..119614686,2	K562	blood:
31	chr7:119601761..119606490-chr7:119613370..119617437,5	K562	blood:
32	chr7:119573362..119575942-chr7:119596349..119600152,3	K562	blood:
33	chr7:119609825..119612771-chr7:119797844..119799640,2	K562	blood:
34	chr7:119593756..119596259-chr7:119601631..119603821,2	K562	blood:
35	chr7:119573958..119576750-chr7:119589483..119591512,2	K562	blood:
36	chr7:119599851..119601809-chr7:119612155..119614686,2	K562	blood:
37	chr7:119545928..119547433-chr7:119598260..119601242,2	K562	blood:
38	chr7:119623792..119625656-chr7:119627797..119629586,2	K562	blood:
39	chr7:119564930..119567525-chr7:119586667..119589307,3	K562	blood:
40	chr7:119575582..119577165-chr7:119582131..119584732,3	K562	blood:
41	chr7:119596097..119601852-chr7:119602330..119605666,5	K562	blood:
42	chr7:119603198..119605328-chr7:119613370..119615944,2	K562	blood:
43	chr7:119573578..119576146-chr7:119578787..119581903,3	K562	blood:
44	chr7:119544847..119547589-chr7:119588940..119593130,4	K562	blood:
45	chr7:119590351..119592523-chr7:119610438..119612381,2	K562	blood:
46	chr7:119596097..119599917-chr7:119604166..119607181,3	K562	blood:
47	chr7:119607984..119609980-chr7:119613441..119615371,3	K562	blood:
48	chr7:119589512..119591360-chr7:119594151..119597360,3	K562	blood:
49	chr7:119573958..119576750-chr7:119589483..119591512,2	K562	blood:
50	chr7:119607984..119609980-chr7:119613441..119615371,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225546	chromatin interactions

Extended variants
information (count: 1515 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1515 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561414675	chr7:119570272-119570273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535722112	chr7:119570273-119570274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187599202	chr7:119570291-119570292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556086188	chr7:119570294-119570295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540579270	chr7:119570347-119570348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564234938	chr7:119570352-119570353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114941967	chr7:119570392-119570393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79220101	chr7:119570435-119570436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534987881	chr7:119570436-119570437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75103509	chr7:119570437-119570438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577985295	chr7:119570444-119570445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56934249	chr7:119570467-119570468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73485259	chr7:119570479-119570480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549520932	chr7:119570491-119570492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111679089	chr7:119570582-119570583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73485261	chr7:119570584-119570585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs141638590	chr7:119570658-119570659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563001568	chr7:119570659-119570660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571548468	chr7:119570691-119570692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183471853	chr7:119570730-119570731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188348005	chr7:119570739-119570740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567536747	chr7:119570778-119570779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576173838	chr7:119570793-119570794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536421918	chr7:119570830-119570831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143847672	chr7:119570849-119570850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555049733	chr7:119570872-119570873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114452323	chr7:119570916-119570917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540764117	chr7:119570946-119570947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557761910	chr7:119571025-119571026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541630260	chr7:119571096-119571097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543713697	chr7:119571112-119571113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563407591	chr7:119571168-119571169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561605307	chr7:119571323-119571324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529103402	chr7:119571361-119571362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372852375	chr7:119571368-119571369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527604861	chr7:119571382-119571383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111597727	chr7:119571388-119571389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559577187	chr7:119571407-119571408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528644376	chr7:119571424-119571425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150499103	chr7:119571466-119571467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372181321	chr7:119571524-119571525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571650319	chr7:119571526-119571527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530778310	chr7:119571586-119571587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184913752	chr7:119571596-119571597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375813166	chr7:119571601-119571602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73723028	chr7:119571603-119571604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190157362	chr7:119571654-119571655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553192941	chr7:119571674-119571675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181569666	chr7:119571708-119571709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540591649	chr7:119571726-119571727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119567600-119572600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:119570200-119571600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:119571400-119572200	Enhancers	K562	blood
4	chr7:119574400-119575400	Enhancers	Fetal Lung	lung
5	chr7:119574400-119578400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:119575200-119577000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:119575400-119576000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:119579800-119584000	Weak transcription	K562	blood
9	chr7:119584000-119584800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:119584000-119585000	Flanking Active TSS	K562	blood
11	chr7:119584200-119584800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:119585000-119585800	Weak transcription	K562	blood
13	chr7:119585800-119590600	Active TSS	K562	blood
14	chr7:119589000-119589400	Enhancers	Ovary	ovary
15	chr7:119597400-119597600	Active TSS	K562	blood
16	chr7:119597400-119597800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:119597400-119597800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:119597600-119598000	Enhancers	HMEC	breast
19	chr7:119597600-119603800	Weak transcription	K562	blood
20	chr7:119597800-119598000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:119597800-119599400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:119598400-119599800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:119599200-119602200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:119599200-119602400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:119599400-119599600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:119599400-119602200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:119599400-119602400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:119599600-119600000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:119599600-119601400	Enhancers	HSMM	muscle
30	chr7:119599600-119602200	Enhancers	Osteobl	bone
31	chr7:119599800-119600200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:119599800-119600600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:119599800-119601200	Enhancers	NHEK	skin
34	chr7:119599800-119601800	Enhancers	NH-A	brain
35	chr7:119600000-119600800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:119600200-119600600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:119600200-119605200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:119600400-119600600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:119600400-119601200	Enhancers	NHDF-Ad	bronchial
40	chr7:119600400-119601200	Enhancers	NHLF	lung
41	chr7:119600600-119604800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:119600600-119605000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:119601000-119601400	Enhancers	HUVEC	blood vessel
44	chr7:119601200-119604800	Weak transcription	NHDF-Ad	bronchial
45	chr7:119601200-119604800	Weak transcription	NHLF	lung
46	chr7:119601400-119603800	Weak transcription	HSMM	muscle
47	chr7:119601800-119604800	Weak transcription	NH-A	brain
48	chr7:119602200-119603800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:119602200-119603800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:119602200-119604800	Weak transcription	Osteobl	bone

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