Variant report

Variant	nsv608066
Chromosome Location	chr7:103861035-103916484
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:103907103..103909404-chr7:103910665..103913371,2	MCF-7	breast:
2	chr7:103912958..103913550-chr7:104056161..104056804,2	MCF-7	breast:
3	chr7:103864521..103866383-chr7:103867413..103869166,2	MCF-7	breast:
4	chr7:103871547..103872530-chr7:104558465..104559716,7	K562	blood:
5	chr7:103847204..103848978-chr7:103906367..103908511,2	MCF-7	breast:
6	chr7:103912894..103913495-chr7:104502952..104503806,2	MCF-7	breast:
7	chr7:103871788..103872679-chr7:103892569..103893462,4	MCF-7	breast:
8	chr7:103864521..103866383-chr7:103867413..103869166,2	MCF-7	breast:
9	chr7:103911600..103912557-chr7:104210015..104210591,2	MCF-7	breast:
10	chr7:103846497..103848385-chr7:103909952..103912269,2	MCF-7	breast:
11	chr7:103865736..103867349-chr7:104538878..104541224,2	MCF-7	breast:
12	chr7:103858966..103863231-chr7:103865702..103869473,3	K562	blood:
13	chr7:103858966..103863231-chr7:103865702..103869473,3	K562	blood:
14	chr7:103907103..103909404-chr7:103910665..103913371,2	MCF-7	breast:
15	chr7:103871818..103872475-chr7:103907890..103908480,2	MCF-7	breast:
16	chr7:103858966..103860906-chr7:103867973..103872038,3	K562	blood:
17	chr7:103882149..103884182-chr7:103888404..103891368,2	K562	blood:
18	chr7:103846923..103849398-chr7:103892463..103895900,3	MCF-7	breast:
19	chr7:103906374..103908204-chr7:103909553..103912446,2	K562	blood:
20	chr7:103846534..103850528-chr7:103863639..103871951,9	MCF-7	breast:
21	chr7:103846683..103848713-chr7:103864388..103866402,2	K562	blood:
22	chr7:103846903..103848907-chr7:103862421..103864771,2	MCF-7	breast:
23	chr7:103879381..103883166-chr7:103888951..103893508,5	MCF-7	breast:
24	chr7:103906374..103908204-chr7:103909553..103912446,2	K562	blood:
25	chr7:103882149..103884182-chr7:103888404..103891368,2	K562	blood:
26	chr7:103913016..103913860-chr7:104055484..104056822,4	MCF-7	breast:
27	chr7:103846124..103848372-chr7:103861589..103863576,2	MCF-7	breast:
28	chr7:103890321..103892926-chr7:103895199..103897765,2	K562	blood:
29	chr7:103846910..103851184-chr7:103856864..103861366,6	MCF-7	breast:
30	chr7:103901281..103902930-chr7:103909160..103911319,2	K562	blood:
31	chr7:103848155..103849804-chr7:103868628..103871068,2	MCF-7	breast:
32	chr7:103890321..103892926-chr7:103895199..103897765,2	K562	blood:
33	chr7:103879381..103883166-chr7:103888951..103893508,5	MCF-7	breast:
34	chr7:103871788..103872679-chr7:103892569..103893462,4	MCF-7	breast:
35	chr7:103847842..103850053-chr7:103878233..103880195,2	MCF-7	breast:
36	chr7:103871818..103872475-chr7:103907890..103908480,2	MCF-7	breast:
37	chr7:103891426..103893091-chr7:103895738..103897765,2	K562	blood:
38	chr7:103901281..103902930-chr7:103909160..103911319,2	K562	blood:
39	chr7:103891426..103893091-chr7:103895738..103897765,2	K562	blood:
40	chr7:103855618..103859131-chr7:103859954..103863291,3	MCF-7	breast:
41	chr7:103846992..103849875-chr7:103861564..103863128,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164815	chromatin interactions

Extended variants
information (count: 1122 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1122 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12537685	chr7:103861035-103861036	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533888554	chr7:103861039-103861040	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548987291	chr7:103861082-103861083	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567518096	chr7:103861083-103861084	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148915513	chr7:103861104-103861105	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556320889	chr7:103861130-103861131	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115699729	chr7:103861160-103861161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554812175	chr7:103861194-103861195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553854539	chr7:103861200-103861201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555477348	chr7:103861210-103861211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572190238	chr7:103861231-103861232	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542608302	chr7:103861234-103861235	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4636136	chr7:103861236-103861237	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574255812	chr7:103861293-103861294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143581328	chr7:103861306-103861307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563089870	chr7:103861323-103861324	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs533324673	chr7:103861333-103861334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs183628455	chr7:103861352-103861353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529076310	chr7:103861569-103861570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369688754	chr7:103861601-103861602	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575997143	chr7:103861607-103861608	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372439934	chr7:103861614-103861615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139173738	chr7:103861632-103861633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141636654	chr7:103861675-103861676	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192855954	chr7:103861677-103861678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs578213812	chr7:103861699-103861700	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs115444295	chr7:103861727-103861728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs6946587	chr7:103861728-103861729	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184835594	chr7:103861737-103861738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs71558670	chr7:103861784-103861785	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542753811	chr7:103861811-103861812	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188805943	chr7:103861843-103861844	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs6946357	chr7:103861864-103861865	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550168637	chr7:103861885-103861886	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs571413618	chr7:103861905-103861906	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532480399	chr7:103861911-103861912	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191337230	chr7:103861932-103861933	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs565932236	chr7:103861934-103861935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183956029	chr7:103861966-103861967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547940005	chr7:103862002-103862003	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs75205342	chr7:103862021-103862022	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536616726	chr7:103862023-103862024	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576177584	chr7:103862027-103862028	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs79552620	chr7:103862036-103862037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs538993120	chr7:103862043-103862044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs74419776	chr7:103862053-103862054	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572263725	chr7:103862057-103862058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs189418933	chr7:103862059-103862060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs138117519	chr7:103862067-103862068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs75828346	chr7:103862086-103862087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
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
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103864200-103865200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:103864200-103865600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:103864400-103864800	Enhancers	Hela-S3	cervix
4	chr7:103864400-103865200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:103864400-103865200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:103864400-103865200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:103864400-103865600	Enhancers	Stomach Mucosa	stomach
8	chr7:103864400-103865600	Enhancers	A549	lung
9	chr7:103864600-103865000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr7:103864600-103865000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:103864600-103865000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:103864600-103865000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:103864600-103865000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:103864600-103865000	Enhancers	HMEC	breast
15	chr7:103864600-103865000	Enhancers	NH-A	brain
16	chr7:103864600-103865000	Enhancers	NHDF-Ad	bronchial
17	chr7:103864600-103865000	Enhancers	NHLF	lung
18	chr7:103864600-103865200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:103864600-103865200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:103864600-103865200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:103864600-103865200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:103864600-103865200	Enhancers	HUVEC	blood vessel
23	chr7:103864600-103865200	Enhancers	K562	blood
24	chr7:103864600-103865200	Enhancers	Osteobl	bone
25	chr7:103864600-103865400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:103864600-103865400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:103864600-103865400	Enhancers	NHEK	skin
28	chr7:103864800-103865000	Flanking Active TSS	Hela-S3	cervix
29	chr7:103864800-103865200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:103864800-103865200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:103864800-103865200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:103864800-103865400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:103865000-103870200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:103865200-103869600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:103865200-103871000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:103865200-103871800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:103865600-103866000	Weak transcription	Stomach Mucosa	stomach
38	chr7:103866000-103866200	Enhancers	Stomach Mucosa	stomach
39	chr7:103866200-103869000	Weak transcription	Stomach Mucosa	stomach
40	chr7:103869000-103870000	Enhancers	Stomach Mucosa	stomach
41	chr7:103869600-103870000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:103870000-103871800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:103870000-103871800	Weak transcription	Stomach Mucosa	stomach
44	chr7:103870200-103870800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:103870200-103871200	Enhancers	Brain Germinal Matrix	brain
46	chr7:103870600-103871200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:103870800-103871400	Enhancers	Fetal Brain Female	brain
48	chr7:103870800-103872400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:103871000-103871200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:103871000-103871200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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