Variant report

Variant	nsv888550
Chromosome Location	chr7:80584388-80644661
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:32)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:80633226..80634840-chr7:80638668..80640562,2	MCF-7	breast:
2	chr7:80587609..80589634-chr7:80597530..80599724,2	K562	blood:
3	chr7:80610525..80612137-chr7:80613014..80615847,2	MCF-7	breast:
4	chr7:80630839..80633684-chr7:80636389..80638259,2	K562	blood:
5	chr7:80583982..80586370-chr7:80587302..80589894,2	MCF-7	breast:
6	chr7:80583982..80586370-chr7:80587302..80589894,2	MCF-7	breast:
7	chr7:80606995..80609318-chr7:80612733..80615307,2	MCF-7	breast:
8	chr7:80577580..80580215-chr7:80583349..80585940,2	K562	blood:
9	chr7:80547475..80549801-chr7:80589010..80591361,3	MCF-7	breast:
10	chr7:80546751..80548874-chr7:80599164..80601947,2	MCF-7	breast:
11	chr7:80635721..80638833-chr7:80644167..80646941,3	MCF-7	breast:
12	chr7:80601112..80603170-chr7:80604484..80606364,2	MCF-7	breast:
13	chr7:80549472..80551455-chr7:80599232..80601743,2	MCF-7	breast:
14	chr7:80547327..80552292-chr7:80621561..80625464,7	MCF-7	breast:
15	chr7:80570735..80573677-chr7:80637820..80640078,2	MCF-7	breast:
16	chr7:80548297..80550062-chr7:80639579..80643637,5	MCF-7	breast:
17	chr7:80623727..80626571-chr7:80632803..80635614,2	MCF-7	breast:
18	chr7:80630726..80632339-chr7:80635881..80637889,2	K562	blood:
19	chr7:80547240..80552191-chr7:80593459..80597808,5	MCF-7	breast:
20	chr7:80643095..80644798-chr7:80786806..80789312,2	MCF-7	breast:
21	chr7:80633226..80634840-chr7:80638668..80640562,2	MCF-7	breast:
22	chr7:80606995..80609318-chr7:80612733..80615307,2	MCF-7	breast:
23	chr7:80571034..80573254-chr7:80627413..80629496,2	MCF-7	breast:
24	chr7:80587609..80589634-chr7:80597530..80599724,2	K562	blood:
25	chr7:80546718..80548277-chr7:80629819..80632695,2	MCF-7	breast:
26	chr7:80630839..80633684-chr7:80636389..80638259,2	K562	blood:
27	chr7:80601112..80603170-chr7:80604484..80606364,2	MCF-7	breast:
28	chr7:80610525..80612137-chr7:80613014..80615847,2	MCF-7	breast:
29	chr7:80630726..80632339-chr7:80635881..80637889,2	K562	blood:
30	chr7:80547310..80549488-chr7:80619080..80620917,2	MCF-7	breast:
31	chr7:80635721..80638833-chr7:80644167..80646941,3	MCF-7	breast:
32	chr7:80623727..80626571-chr7:80632803..80635614,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA3C-1	chr7:80601832-80604040	NONHSAT121756

No data

Variant related genes	Relation type
ENSG00000075223	chromatin interactions

Extended variants
information (count: 2154 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2154 , 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	rs17296493	chr7:80584388-80584389	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572490103	chr7:80584411-80584412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs207468125	chr7:80584412-80584413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541523991	chr7:80584517-80584518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10675524	chr7:80584528-80584529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35850017	chr7:80584529-80584530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181630992	chr7:80584548-80584549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561226660	chr7:80584617-80584618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530569992	chr7:80584620-80584621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375446735	chr7:80584639-80584640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544111458	chr7:80584703-80584704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145791017	chr7:80584708-80584709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113910972	chr7:80584756-80584757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186968753	chr7:80584768-80584769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115045718	chr7:80584772-80584773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117778103	chr7:80584792-80584793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10243643	chr7:80584794-80584795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs137950604	chr7:80584802-80584803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568674795	chr7:80584805-80584806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190558300	chr7:80584821-80584822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557585337	chr7:80584839-80584840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571189490	chr7:80584911-80584912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149054866	chr7:80584917-80584918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563545097	chr7:80584928-80584929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55743446	chr7:80584946-80584947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143035333	chr7:80584988-80584989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541908913	chr7:80585000-80585001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376060080	chr7:80585017-80585018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370411612	chr7:80585018-80585019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555061303	chr7:80585024-80585025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148186177	chr7:80585071-80585072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4731954	chr7:80585072-80585073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182233904	chr7:80585091-80585092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141358925	chr7:80585097-80585098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533093584	chr7:80585121-80585122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540122869	chr7:80585124-80585125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376918060	chr7:80585153-80585154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559720634	chr7:80585158-80585159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565603009	chr7:80585165-80585166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368782997	chr7:80585207-80585208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528079712	chr7:80585214-80585215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548672077	chr7:80585221-80585222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551794319	chr7:80585232-80585233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532891573	chr7:80585288-80585289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57025586	chr7:80585314-80585315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs185974712	chr7:80585321-80585322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189707325	chr7:80585353-80585354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182206533	chr7:80585363-80585364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150809030	chr7:80585418-80585419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546928727	chr7:80585499-80585500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80573200-80589600	Weak transcription	NHLF	lung
2	chr7:80574000-80585400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:80583600-80584400	Enhancers	HSMMtube	muscle
4	chr7:80583600-80588800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:80586600-80586800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:80586600-80587000	Enhancers	HSMM	muscle
7	chr7:80586800-80588800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:80587000-80597000	Weak transcription	HSMM	muscle
9	chr7:80588600-80590600	Enhancers	NHDF-Ad	bronchial
10	chr7:80588800-80589000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:80588800-80590400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:80588800-80590400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:80589000-80589800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:80589400-80590400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:80589600-80590000	Enhancers	Fetal Brain Female	brain
16	chr7:80589600-80590400	Enhancers	NHLF	lung
17	chr7:80589800-80590400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:80589800-80590400	Enhancers	Fetal Lung	lung
19	chr7:80591200-80591600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:80596000-80597200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr7:80596400-80596800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:80596400-80597200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr7:80596800-80597200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:80596800-80597400	Enhancers	NHDF-Ad	bronchial
25	chr7:80596800-80598200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:80597000-80597200	Enhancers	HSMM	muscle
27	chr7:80597200-80597400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:80597200-80597400	Enhancers	Aorta	Aorta
29	chr7:80597400-80604200	Weak transcription	Aorta	Aorta
30	chr7:80600200-80600600	Enhancers	Stomach Mucosa	stomach
31	chr7:80600400-80601200	Enhancers	Psoas Muscle	Psoas
32	chr7:80600600-80600800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:80604200-80604600	ZNF genes & repeats	Aorta	Aorta
34	chr7:80604400-80604600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:80604600-80607400	Weak transcription	Aorta	Aorta
36	chr7:80610800-80611400	Enhancers	HSMM	muscle
37	chr7:80611200-80611400	Enhancers	Rectal Smooth Muscle	rectum
38	chr7:80613400-80614400	Enhancers	Rectal Smooth Muscle	rectum
39	chr7:80614200-80614600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:80614200-80614600	Enhancers	Brain Substantia Nigra	brain
41	chr7:80614400-80614800	Enhancers	Colon Smooth Muscle	Colon
42	chr7:80614400-80614800	Enhancers	Fetal Stomach	stomach
43	chr7:80621600-80622000	Enhancers	Fetal Heart	heart
44	chr7:80624000-80624800	Enhancers	Brain Germinal Matrix	brain
45	chr7:80624800-80627000	Weak transcription	Brain Germinal Matrix	brain
46	chr7:80625200-80625400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:80625400-80638200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:80626600-80631800	Enhancers	Fetal Brain Male	brain
49	chr7:80627000-80629000	Enhancers	Brain Germinal Matrix	brain
50	chr7:80627200-80627400	Enhancers	NHDF-Ad	bronchial

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