Variant report

Variant	nsv888672
Chromosome Location	chr7:85383292-85532629
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:84659833..84660559-chr7:85458909..85459420,2	MCF-7	breast:
2	chr7:85393175..85394828-chr7:85402335..85404296,2	K562	blood:
3	chr7:84670766..84671527-chr7:85480999..85481548,2	MCF-7	breast:
4	chr7:85519420..85520975-chr7:86097643..86099272,2	MCF-7	breast:
5	chr7:85519463..85520587-chr7:86098657..86099580,4	MCF-7	breast:
6	chr7:85518932..85520222-chr7:86098724..86099479,6	MCF-7	breast:
7	chr7:84659939..84660879-chr7:85480443..85481564,5	MCF-7	breast:
8	chr7:85253799..85255323-chr7:85392933..85394931,2	K562	blood:
9	chr7:85513282..85514931-chr7:85515657..85518081,2	K562	blood:
10	chr7:84659852..84660474-chr7:85458932..85459657,2	MCF-7	breast:
11	chr7:85513282..85514931-chr7:85515657..85518081,2	K562	blood:
12	chr7:84670210..84671310-chr7:85458944..85460023,3	MCF-7	breast:
13	chr7:84652105..84652692-chr7:85458869..85459474,2	MCF-7	breast:
14	chr7:85522405..85523206-chr7:86098665..86099240,2	MCF-7	breast:
15	chr7:85393175..85394828-chr7:85402335..85404296,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153993	chromatin interactions

Extended variants
information (count: 2174 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2174 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538785853	chr7:85393210-85393211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143315834	chr7:85393217-85393218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569507744	chr7:85393218-85393219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536929810	chr7:85393286-85393287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554937301	chr7:85393298-85393299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573497510	chr7:85393363-85393364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540223617	chr7:85393383-85393384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374251287	chr7:85393412-85393413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558534124	chr7:85393423-85393424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576924203	chr7:85393425-85393426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544344009	chr7:85393444-85393445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557953356	chr7:85393497-85393498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563117989	chr7:85393499-85393500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530588620	chr7:85393559-85393560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542821760	chr7:85393570-85393571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560983017	chr7:85393652-85393653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150996752	chr7:85393675-85393676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575209647	chr7:85393685-85393686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528388360	chr7:85393693-85393694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199887755	chr7:85393698-85393699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542701252	chr7:85393733-85393734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571303645	chr7:85393784-85393785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532229854	chr7:85393787-85393788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550723593	chr7:85393829-85393830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545668703	chr7:85393837-85393838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560810720	chr7:85393931-85393932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73387707	chr7:85393937-85393938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs368546183	chr7:85393965-85393966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191353277	chr7:85393981-85393982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534560409	chr7:85393985-85393986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62459894	chr7:85393988-85393989	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576851585	chr7:85394064-85394065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544218939	chr7:85394077-85394078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556203293	chr7:85394080-85394081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372235890	chr7:85394116-85394117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542409283	chr7:85394169-85394170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183734806	chr7:85394209-85394210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146603682	chr7:85394215-85394216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572973926	chr7:85394231-85394232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540555166	chr7:85394235-85394236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540468496	chr7:85394236-85394237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188059227	chr7:85394237-85394238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532118397	chr7:85394240-85394241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11973684	chr7:85394252-85394253	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562530714	chr7:85394266-85394267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2102449	chr7:85394379-85394380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185513024	chr7:85394389-85394390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190272656	chr7:85394402-85394403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10279554	chr7:85394412-85394413	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552422998	chr7:85394416-85394417	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Neurodevelopmental disorder	22521361	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
Williams-beuren syndrome	16826523	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85393200-85394600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:85393200-85395600	Enhancers	Fetal Intestine Small	intestine
3	chr7:85394200-85394600	Enhancers	Duodenum Mucosa	Duodenum
4	chr7:85394400-85395600	Enhancers	Fetal Intestine Large	intestine
5	chr7:85394600-85395000	Active TSS	Duodenum Mucosa	Duodenum
6	chr7:85394600-85395400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:85394800-85395800	Enhancers	HepG2	liver
8	chr7:85395000-85395600	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:85395200-85395600	Enhancers	Gastric	stomach
10	chr7:85395200-85395600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:85395400-85395600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr7:85395400-85395600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr7:85395400-85396400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:85395600-85396600	Weak transcription	Fetal Intestine Small	intestine
15	chr7:85396400-85398200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:85396600-85397400	Enhancers	Fetal Intestine Small	intestine
17	chr7:85399200-85399600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:85399200-85400400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:85399400-85400000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:85399400-85400400	Enhancers	Osteobl	bone
21	chr7:85399600-85400000	Enhancers	NHDF-Ad	bronchial
22	chr7:85399600-85400200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:85399600-85400200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:85400000-85400200	Flanking Active TSS	NHDF-Ad	bronchial
25	chr7:85400000-85401800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:85400200-85400400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:85400200-85402000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:85400200-85402200	Weak transcription	NHDF-Ad	bronchial
29	chr7:85400400-85402000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:85400400-85402000	Weak transcription	Osteobl	bone
31	chr7:85400400-85402200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:85401800-85402200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:85402000-85402200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:85402000-85402400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:85402000-85403000	Enhancers	Osteobl	bone
36	chr7:85402200-85402400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:85402200-85402400	Enhancers	NHDF-Ad	bronchial
38	chr7:85402200-85402600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:85402200-85403600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:85402200-85403600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:85402200-85403600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr7:85402400-85402600	Flanking Active TSS	NHDF-Ad	bronchial
43	chr7:85402400-85403000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:85402400-85403000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:85402400-85403600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:85402600-85403000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:85402600-85403200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:85402600-85403200	Active TSS	NHDF-Ad	bronchial
49	chr7:85402600-85403600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:85403000-85403200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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