Variant report

Variant	esv2761107
Chromosome Location	chr7:119600529-119613841
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:119596097..119601852-chr7:119602330..119605666,5	K562	blood:
2	chr7:119603198..119605328-chr7:119613370..119615944,2	K562	blood:
3	chr7:119613490..119615786-chr7:119615984..119618281,3	K562	blood:
4	chr7:119609825..119612771-chr7:119797844..119799640,2	K562	blood:
5	chr7:119590351..119592523-chr7:119610438..119612381,2	K562	blood:
6	chr7:119599851..119601809-chr7:119612155..119614686,2	K562	blood:
7	chr7:119604091..119606659-chr7:119609179..119612506,3	K562	blood:
8	chr7:119605463..119608341-chr7:119623284..119625635,2	K562	blood:
9	chr7:119546057..119547613-chr7:119602770..119604500,2	K562	blood:
10	chr7:119595929..119598016-chr7:119599722..119602227,2	K562	blood:
11	chr7:119599851..119601809-chr7:119612155..119614686,2	K562	blood:
12	chr7:119601761..119606490-chr7:119613370..119617437,5	K562	blood:
13	chr7:119592860..119595657-chr7:119604147..119608281,6	K562	blood:
14	chr7:119593756..119596259-chr7:119601631..119603821,2	K562	blood:
15	chr7:119607984..119609980-chr7:119613441..119615371,3	K562	blood:
16	chr7:119547567..119549067-chr7:119606535..119609324,2	K562	blood:
17	chr7:119594641..119599063-chr7:119599275..119601348,3	K562	blood:
18	chr7:119584419..119586838-chr7:119603002..119604856,2	K562	blood:
19	chr7:119604091..119606659-chr7:119609179..119612506,3	K562	blood:
20	chr7:119596097..119599917-chr7:119604166..119607181,3	K562	blood:
21	chr7:119596097..119601852-chr7:119602330..119605666,5	K562	blood:
22	chr7:119544225..119546800-chr7:119608946..119611395,2	K562	blood:
23	chr7:119545928..119547433-chr7:119598260..119601242,2	K562	blood:
24	chr7:119607984..119609980-chr7:119613441..119615371,3	K562	blood:
25	chr7:119603198..119605328-chr7:119613370..119615944,2	K562	blood:
26	chr7:119601761..119606490-chr7:119613370..119617437,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225546	chromatin interactions

Extended variants
information (count: 448 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539338845	chr7:119600564-119600565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376394742	chr7:119600594-119600595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147583080	chr7:119600660-119600661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555405493	chr7:119600696-119600697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142184216	chr7:119600713-119600714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555197764	chr7:119600798-119600799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573790265	chr7:119600801-119600802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563623128	chr7:119600802-119600803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542700103	chr7:119600810-119600811	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79751517	chr7:119600825-119600826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35393412	chr7:119600830-119600831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs6964953	chr7:119600850-119600851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373102650	chr7:119600929-119600930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181206902	chr7:119600939-119600940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185348882	chr7:119600941-119600942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530833492	chr7:119600945-119600946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs6946932	chr7:119600972-119600973	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560706020	chr7:119600985-119600986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370960026	chr7:119601032-119601033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564453346	chr7:119601071-119601072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75735971	chr7:119601101-119601102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs73474741	chr7:119601121-119601122	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566874001	chr7:119601157-119601158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537125404	chr7:119601170-119601171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538690878	chr7:119601196-119601197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs552522283	chr7:119601212-119601213	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569496647	chr7:119601309-119601310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538501250	chr7:119601332-119601333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555204183	chr7:119601360-119601361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575060244	chr7:119601400-119601401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190156933	chr7:119601406-119601407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181383133	chr7:119601433-119601434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138931184	chr7:119601448-119601449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140417738	chr7:119601519-119601520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564890937	chr7:119601534-119601535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528646090	chr7:119601537-119601538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367599138	chr7:119601565-119601566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575182695	chr7:119601570-119601571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544051569	chr7:119601576-119601577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560768764	chr7:119601605-119601606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372048859	chr7:119601663-119601664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386717237	chr7:119601664-119601665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77476662	chr7:119601665-119601666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536527341	chr7:119601679-119601680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199978036	chr7:119601680-119601681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150373266	chr7:119601769-119601770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369542183	chr7:119601787-119601788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138738747	chr7:119601841-119601842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532636053	chr7:119601863-119601864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149343925	chr7:119601876-119601877	Weak transcription 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
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

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119597600-119603800	Weak transcription	K562	blood
2	chr7:119599200-119602200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:119599200-119602400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:119599400-119602200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:119599400-119602400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:119599600-119601400	Enhancers	HSMM	muscle
7	chr7:119599600-119602200	Enhancers	Osteobl	bone
8	chr7:119599800-119600600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:119599800-119601200	Enhancers	NHEK	skin
10	chr7:119599800-119601800	Enhancers	NH-A	brain
11	chr7:119600000-119600800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:119600200-119600600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:119600200-119605200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:119600400-119600600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:119600400-119601200	Enhancers	NHDF-Ad	bronchial
16	chr7:119600400-119601200	Enhancers	NHLF	lung
17	chr7:119600600-119604800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:119600600-119605000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:119601000-119601400	Enhancers	HUVEC	blood vessel
20	chr7:119601200-119604800	Weak transcription	NHDF-Ad	bronchial
21	chr7:119601200-119604800	Weak transcription	NHLF	lung
22	chr7:119601400-119603800	Weak transcription	HSMM	muscle
23	chr7:119601800-119604800	Weak transcription	NH-A	brain
24	chr7:119602200-119603800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:119602200-119603800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:119602200-119604800	Weak transcription	Osteobl	bone
27	chr7:119602400-119603800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:119602400-119603800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:119603800-119605000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:119603800-119605800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:119603800-119605800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:119603800-119605800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:119603800-119605800	Enhancers	HSMM	muscle
34	chr7:119603800-119605800	Enhancers	HSMMtube	muscle
35	chr7:119603800-119606000	Enhancers	K562	blood
36	chr7:119604800-119605600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:119604800-119605600	Enhancers	NHDF-Ad	bronchial
38	chr7:119604800-119605800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:119604800-119605800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:119604800-119605800	Enhancers	NH-A	brain
41	chr7:119604800-119605800	Enhancers	NHLF	lung
42	chr7:119604800-119605800	Enhancers	Osteobl	bone
43	chr7:119605000-119605400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:119605000-119605400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:119605000-119605800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:119605000-119605800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:119605000-119605800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:119605200-119605800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:119605200-119605800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr7:119605400-119605800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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