Variant report

Variant	nsv888551
Chromosome Location	chr7:80620397-80723062
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:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:80692851..80695599-chr7:80695778..80697561,2	MCF-7	breast:
2	chr7:80544433..80547832-chr7:80692006..80696371,5	MCF-7	breast:
3	chr7:80697644..80700477-chr7:80703389..80704968,2	MCF-7	breast:
4	chr7:80569413..80574847-chr7:80699987..80704923,10	MCF-7	breast:
5	chr7:80706504..80708555-chr7:80881256..80882974,2	MCF-7	breast:
6	chr7:80690552..80692253-chr7:80697975..80700907,2	K562	blood:
7	chr7:80550268..80552469-chr7:80695848..80697733,3	MCF-7	breast:
8	chr7:80525666..80528022-chr7:80693500..80695168,2	MCF-7	breast:
9	chr7:80571034..80573254-chr7:80627413..80629496,2	MCF-7	breast:
10	chr7:80635721..80638833-chr7:80644167..80646941,3	MCF-7	breast:
11	chr7:80716969..80719042-chr7:80721026..80723065,2	K562	blood:
12	chr7:80630726..80632339-chr7:80635881..80637889,2	K562	blood:
13	chr7:80669415..80672398-chr7:80673453..80675631,3	MCF-7	breast:
14	chr7:80657944..80659650-chr7:80705154..80707062,2	K562	blood:
15	chr7:80657944..80659650-chr7:80705154..80707062,2	K562	blood:
16	chr7:80546718..80548277-chr7:80629819..80632695,2	MCF-7	breast:
17	chr7:80571993..80572689-chr7:80697291..80697866,3	MCF-7	breast:
18	chr7:80630839..80633684-chr7:80636389..80638259,2	K562	blood:
19	chr7:80547706..80549655-chr7:80663458..80666420,2	MCF-7	breast:
20	chr7:80635721..80638833-chr7:80644167..80646941,3	MCF-7	breast:
21	chr7:80697644..80700477-chr7:80703389..80704968,2	MCF-7	breast:
22	chr7:80547198..80550195-chr7:80695484..80697317,2	MCF-7	breast:
23	chr7:80548288..80549955-chr7:80645340..80647349,2	MCF-7	breast:
24	chr7:80669415..80672398-chr7:80673453..80675631,3	MCF-7	breast:
25	chr7:80572189..80572750-chr7:80697046..80697791,3	MCF-7	breast:
26	chr7:80545266..80555113-chr7:80701488..80708340,14	MCF-7	breast:
27	chr7:80633226..80634840-chr7:80638668..80640562,2	MCF-7	breast:
28	chr7:80547233..80548778-chr7:80697858..80700126,2	MCF-7	breast:
29	chr7:80572189..80572824-chr7:80704051..80704818,2	MCF-7	breast:
30	chr7:80692851..80695599-chr7:80695778..80697561,2	MCF-7	breast:
31	chr7:80550910..80552640-chr7:80692789..80694831,2	MCF-7	breast:
32	chr7:80547246..80549279-chr7:80669973..80672842,2	MCF-7	breast:
33	chr7:80548297..80550062-chr7:80639579..80643637,5	MCF-7	breast:
34	chr7:80571882..80572841-chr7:80694402..80695316,4	MCF-7	breast:
35	chr7:80547327..80552292-chr7:80621561..80625464,7	MCF-7	breast:
36	chr7:80570369..80572451-chr7:80702280..80705942,3	MCF-7	breast:
37	chr7:80722580..80725248-chr7:80741058..80743556,2	MCF-7	breast:
38	chr7:80538222..80539936-chr7:80670500..80672266,2	MCF-7	breast:
39	chr7:80546160..80553330-chr7:80697243..80707851,28	MCF-7	breast:
40	chr7:80623727..80626571-chr7:80632803..80635614,2	MCF-7	breast:
41	chr7:80548784..80550699-chr7:80652671..80654608,2	MCF-7	breast:
42	chr7:80630726..80632339-chr7:80635881..80637889,2	K562	blood:
43	chr7:80550844..80552775-chr7:80722519..80724746,2	MCF-7	breast:
44	chr7:80633226..80634840-chr7:80638668..80640562,2	MCF-7	breast:
45	chr7:80547954..80550171-chr7:80721160..80725136,3	MCF-7	breast:
46	chr7:80570440..80573210-chr7:80694218..80696148,2	MCF-7	breast:
47	chr7:80690552..80692253-chr7:80697975..80700907,2	K562	blood:
48	chr7:80547897..80550717-chr7:80673979..80676144,2	MCF-7	breast:
49	chr7:80716969..80719042-chr7:80721026..80723065,2	K562	blood:
50	chr7:80630839..80633684-chr7:80636389..80638259,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000075223	chromatin interactions

Extended variants
information (count: 3407 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:3407 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs853048	chr7:80620397-80620398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140604722	chr7:80620404-80620405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574279765	chr7:80620421-80620422	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs115725401	chr7:80620462-80620463	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551099893	chr7:80620518-80620519	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570602909	chr7:80620569-80620570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533357233	chr7:80620628-80620629	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs181807739	chr7:80620637-80620638	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183865251	chr7:80620639-80620640	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188142947	chr7:80620723-80620724	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111609783	chr7:80620727-80620728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568881690	chr7:80620764-80620765	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373198512	chr7:80620794-80620795	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377383196	chr7:80620795-80620796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145401414	chr7:80620805-80620806	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6946229	chr7:80620809-80620810	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs202058664	chr7:80620812-80620813	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs853047	chr7:80620813-80620814	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs117487899	chr7:80620817-80620818	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10246456	chr7:80620820-80620821	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553973066	chr7:80620821-80620822	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs180796758	chr7:80620847-80620848	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145095685	chr7:80620884-80620885	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs853046	chr7:80620895-80620896	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575634475	chr7:80620901-80620902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186673943	chr7:80620916-80620917	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560374805	chr7:80621572-80621573	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs853045	chr7:80621583-80621584	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375330901	chr7:80621608-80621609	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs117306450	chr7:80621640-80621641	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563220761	chr7:80621724-80621725	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532011306	chr7:80621739-80621740	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552084899	chr7:80621745-80621746	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536812645	chr7:80621778-80621779	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369360539	chr7:80621779-80621780	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76585088	chr7:80621787-80621788	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570211991	chr7:80621824-80621825	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147503183	chr7:80621846-80621847	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567207589	chr7:80621864-80621865	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115082758	chr7:80621869-80621870	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372694074	chr7:80621874-80621875	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556055966	chr7:80621894-80621895	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539306510	chr7:80621945-80621946	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569818470	chr7:80621955-80621956	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115826186	chr7:80622065-80622066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141793330	chr7:80622115-80622116	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs182142769	chr7:80622118-80622119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577657343	chr7:80622136-80622137	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs540196107	chr7:80622150-80622151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs554245741	chr7:80622167-80622168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80621600-80622000	Enhancers	Fetal Heart	heart
2	chr7:80624000-80624800	Enhancers	Brain Germinal Matrix	brain
3	chr7:80624800-80627000	Weak transcription	Brain Germinal Matrix	brain
4	chr7:80625200-80625400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:80625400-80638200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:80626600-80631800	Enhancers	Fetal Brain Male	brain
7	chr7:80627000-80629000	Enhancers	Brain Germinal Matrix	brain
8	chr7:80627200-80627400	Enhancers	NHDF-Ad	bronchial
9	chr7:80627200-80628200	Enhancers	Fetal Brain Female	brain
10	chr7:80627800-80630200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:80628200-80629000	Weak transcription	Fetal Brain Female	brain
12	chr7:80628200-80629200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:80628400-80628800	Enhancers	Pancreas	Pancrea
14	chr7:80629000-80629400	Enhancers	Fetal Brain Female	brain
15	chr7:80629000-80632800	Weak transcription	Brain Germinal Matrix	brain
16	chr7:80629400-80631800	Weak transcription	Fetal Brain Female	brain
17	chr7:80630200-80631600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:80631200-80631400	Enhancers	Fetal Muscle Leg	muscle
19	chr7:80631400-80632600	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:80631600-80631800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:80631600-80631800	Enhancers	HSMM	muscle
22	chr7:80631600-80631800	Weak transcription	NHDF-Ad	bronchial
23	chr7:80631600-80632000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:80631600-80632000	Enhancers	Colon Smooth Muscle	Colon
25	chr7:80631800-80632000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:80631800-80632000	Enhancers	Adipose Nuclei	Adipose
27	chr7:80631800-80632000	Enhancers	NHDF-Ad	bronchial
28	chr7:80631800-80632200	Enhancers	Fetal Brain Female	brain
29	chr7:80631800-80632200	Enhancers	Rectal Smooth Muscle	rectum
30	chr7:80631800-80632600	Weak transcription	Fetal Brain Male	brain
31	chr7:80631800-80633600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:80632000-80632400	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:80632000-80633000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:80632000-80633000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:80632000-80633200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:80632000-80633200	Weak transcription	Adipose Nuclei	Adipose
37	chr7:80632000-80633200	Weak transcription	HSMM	muscle
38	chr7:80632000-80633200	Weak transcription	NHDF-Ad	bronchial
39	chr7:80632200-80632600	Active TSS	Fetal Brain Female	brain
40	chr7:80632200-80632600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:80632400-80635000	Enhancers	Colon Smooth Muscle	Colon
42	chr7:80632600-80632800	Flanking Active TSS	Fetal Brain Female	brain
43	chr7:80632600-80632800	Enhancers	Rectal Smooth Muscle	rectum
44	chr7:80632600-80633000	Enhancers	Fetal Muscle Leg	muscle
45	chr7:80632600-80633200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:80632600-80634800	Enhancers	Fetal Brain Male	brain
47	chr7:80632800-80633200	Enhancers	Brain Germinal Matrix	brain
48	chr7:80632800-80633800	Enhancers	Fetal Brain Female	brain
49	chr7:80632800-80635800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr7:80633000-80633200	Weak transcription	Fetal Muscle Leg	muscle

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