Variant report

Variant	nsv1019337
Chromosome Location	chr7:117707746-117739400
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:117717317..117719745-chr7:117822255..117825189,2	MCF-7	breast:
2	chr7:117632692..117633660-chr7:117737052..117737792,2	MCF-7	breast:
3	chr7:117723247..117725818-chr7:117729549..117731881,2	K562	blood:
4	chr7:117735486..117737983-chr7:117823398..117825051,2	MCF-7	breast:
5	chr7:117714596..117718596-chr7:117719841..117723062,3	MCF-7	breast:
6	chr7:117712368..117714934-chr7:117809130..117811902,2	K562	blood:
7	chr7:117668166..117670137-chr7:117725782..117727302,2	MCF-7	breast:
8	chr7:117721657..117723875-chr7:117724057..117727627,3	K562	blood:
9	chr7:117701125..117702689-chr7:117705932..117707873,2	K562	blood:
10	chr7:117469182..117471688-chr7:117706530..117708485,2	MCF-7	breast:
11	chr7:117721657..117723875-chr7:117724057..117727627,3	K562	blood:
12	chr7:117721657..117723565-chr7:117724057..117726501,2	K562	blood:
13	chr7:117703291..117706183-chr7:117706701..117709440,2	MCF-7	breast:
14	chr7:117714596..117718596-chr7:117719841..117723062,3	MCF-7	breast:
15	chr1:197167660..197168424-chr7:117707343..117708112,2	MCF-7	breast:
16	chr7:117723247..117725818-chr7:117729549..117731881,2	K562	blood:
17	chr7:117721657..117723565-chr7:117724057..117726501,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128534	chromatin interactions

Extended variants
information (count: 920 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:920 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6970745	chr7:117707746-117707747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528024313	chr7:117707770-117707771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572470867	chr7:117707795-117707796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138955264	chr7:117707804-117707805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564689022	chr7:117707810-117707811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10258355	chr7:117707825-117707826	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376544901	chr7:117707874-117707875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10258170	chr7:117707879-117707880	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs568590521	chr7:117707893-117707894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535570716	chr7:117707950-117707951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34905512	chr7:117707979-117707980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181025155	chr7:117707997-117707998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183600026	chr7:117708000-117708001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539370653	chr7:117708007-117708008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143816085	chr7:117708017-117708018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370552414	chr7:117708040-117708041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372841379	chr7:117708069-117708070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575841617	chr7:117708088-117708089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146442206	chr7:117708137-117708138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555268225	chr7:117708219-117708220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573719327	chr7:117708290-117708291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377490405	chr7:117708300-117708301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566985211	chr7:117708324-117708325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10261904	chr7:117708345-117708346	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187992250	chr7:117708389-117708390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181889444	chr7:117708398-117708399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115865257	chr7:117708456-117708457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564725977	chr7:117708463-117708464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34006735	chr7:117708510-117708511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532043767	chr7:117708526-117708527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186150850	chr7:117708552-117708553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79660742	chr7:117708566-117708567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190305011	chr7:117708614-117708615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148324137	chr7:117708637-117708638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529418064	chr7:117708658-117708659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545256277	chr7:117708725-117708726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10081372	chr7:117708734-117708735	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs38819	chr7:117708747-117708748	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533117362	chr7:117708759-117708760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141469780	chr7:117708769-117708770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73718534	chr7:117708786-117708787	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs375545106	chr7:117708925-117708926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368365857	chr7:117709036-117709037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113538807	chr7:117709049-117709050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4730821	chr7:117709069-117709070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567325258	chr7:117709075-117709076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534735080	chr7:117709151-117709152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1989879	chr7:117709182-117709183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs572876214	chr7:117709254-117709255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577720047	chr7:117709261-117709262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117707000-117708800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:117707600-117708400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:117708400-117712200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:117708800-117710800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:117710800-117711200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:117710800-117716800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:117711200-117713400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:117712200-117713200	Enhancers	Fetal Lung	lung
9	chr7:117712200-117714000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:117712200-117714000	Enhancers	NHEK	skin
11	chr7:117712400-117714200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:117712400-117721200	Enhancers	HMEC	breast
13	chr7:117712600-117714000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:117713200-117717800	Weak transcription	Fetal Lung	lung
15	chr7:117713400-117713600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:117713400-117714200	Enhancers	Esophagus	oesophagus
17	chr7:117714000-117714800	Weak transcription	NHEK	skin
18	chr7:117714000-117715000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:117714000-117715200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:117714200-117714600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:117714600-117719200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:117714800-117721800	Enhancers	NHEK	skin
23	chr7:117715000-117721800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:117715200-117719000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:117715400-117716200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:117716800-117717200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:117716800-117717800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:117717200-117719200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:117717800-117718000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr7:117717800-117718600	Enhancers	Fetal Lung	lung
31	chr7:117718000-117718400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:117718400-117719200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr7:117719000-117719800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:117719200-117719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:117719200-117719600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:117719200-117721000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:117719600-117720400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr7:117719600-117721600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:117719800-117721600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:117720200-117721000	Enhancers	NH-A	brain
41	chr7:117720200-117721200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:117720600-117720800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:117720600-117721200	Enhancers	Hela-S3	cervix
44	chr7:117720600-117721400	Enhancers	GM12878-XiMat	blood
45	chr7:117720800-117721200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr7:117720800-117721400	Active TSS	K562	blood
47	chr7:117721200-117721600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:117721400-117721600	Enhancers	K562	blood
49	chr7:117721600-117723800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:117721800-117727000	Weak transcription	NHEK	skin

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