Variant report

Variant	nsv967468
Chromosome Location	chr7:105060881-105088694
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:105078097..105081437-chr7:105081895..105086252,7	MCF-7	breast:
2	chr7:105069185..105071026-chr7:105110310..105112272,2	MCF-7	breast:
3	chr7:105069108..105071061-chr7:105077063..105078737,2	MCF-7	breast:
4	chr7:105039634..105040417-chr7:105069590..105070567,3	MCF-7	breast:
5	chr7:105028909..105031014-chr7:105085186..105086946,2	K562	blood:
6	chr7:105078529..105081334-chr7:105089630..105092260,2	MCF-7	breast:
7	chr7:105029824..105032086-chr7:105067490..105069979,2	K562	blood:
8	chr7:105065275..105067790-chr7:105068952..105071449,2	K562	blood:
9	chr7:105085032..105086956-chr7:105087073..105088636,2	K562	blood:
10	chr7:105078097..105081437-chr7:105081895..105086252,7	MCF-7	breast:
11	chr7:105069861..105070836-chr7:105128119..105128880,2	MCF-7	breast:
12	chr7:104981388..104983616-chr7:105078711..105081522,2	MCF-7	breast:
13	chr7:105038386..105041784-chr7:105078829..105081619,3	MCF-7	breast:
14	chr7:104651286..104653316-chr7:105078292..105081055,3	MCF-7	breast:
15	chr7:105085032..105086956-chr7:105087073..105088636,2	K562	blood:
16	chr7:105083940..105087066-chr7:105087136..105090105,3	K562	blood:
17	chr7:104563090..104564028-chr7:105069801..105070415,2	K562	blood:
18	chr7:105070328..105070998-chr7:105230063..105230628,2	K562	blood:
19	chr7:105070328..105070906-chr7:105220714..105221215,2	MCF-7	breast:
20	chr7:104621410..104622279-chr7:105069837..105070818,3	K562	blood:
21	chr7:105065275..105067790-chr7:105068952..105071449,2	K562	blood:
22	chr7:105041648..105042543-chr7:105069609..105070839,7	MCF-7	breast:
23	chr7:104651667..104654788-chr7:105068823..105071945,3	MCF-7	breast:
24	chr7:105028707..105032086-chr7:105067490..105070575,3	K562	blood:
25	chr7:105069108..105071061-chr7:105077063..105078737,2	MCF-7	breast:
26	chr7:105083591..105086006-chr7:105160365..105162043,2	K562	blood:
27	chr7:104584351..104587135-chr7:105088477..105090953,2	K562	blood:
28	chr7:105077610..105079593-chr7:105277215..105278771,2	MCF-7	breast:
29	chr7:104652835..104655509-chr7:105083181..105085882,2	K562	blood:
30	chr7:105083940..105087066-chr7:105087136..105090105,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239569	chromatin interactions
ENSG00000135250	chromatin interactions
ENSG00000228393	chromatin interactions
ENSG00000005483	chromatin interactions

Extended variants
information (count: 1172 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1172 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77030389	chr7:105060935-105060936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551853815	chr7:105060945-105060946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183171296	chr7:105061033-105061034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187537517	chr7:105061037-105061038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114879264	chr7:105061074-105061075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs118090990	chr7:105061095-105061096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537320376	chr7:105061134-105061135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557112596	chr7:105061177-105061178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577285952	chr7:105061237-105061238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539983407	chr7:105061258-105061259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553491758	chr7:105061273-105061274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540943426	chr7:105061281-105061282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542444490	chr7:105061287-105061288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141858278	chr7:105061288-105061289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575863111	chr7:105061289-105061290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57280402	chr7:105061344-105061345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs79990668	chr7:105061359-105061360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531971632	chr7:105061412-105061413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551714990	chr7:105061418-105061419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61198275	chr7:105061447-105061448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528148799	chr7:105061467-105061468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115083647	chr7:105061485-105061486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568232019	chr7:105061534-105061535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191632092	chr7:105061583-105061584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559397837	chr7:105061590-105061591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534589363	chr7:105061592-105061593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79422297	chr7:105061617-105061618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553356644	chr7:105061632-105061633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566993112	chr7:105061685-105061686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77859257	chr7:105061696-105061697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577962838	chr7:105061702-105061703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184979887	chr7:105061715-105061716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544619394	chr7:105061759-105061760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187499274	chr7:105061769-105061770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376837153	chr7:105061770-105061771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4282505	chr7:105061779-105061780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545419931	chr7:105061786-105061787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200028191	chr7:105061796-105061797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558891474	chr7:105061837-105061838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574173023	chr7:105061839-105061840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536131049	chr7:105061900-105061901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541888563	chr7:105061943-105061944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369102916	chr7:105061955-105061956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192789003	chr7:105061957-105061958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541495522	chr7:105061966-105061967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560112142	chr7:105061989-105061990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550459509	chr7:105062027-105062028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2385560	chr7:105062050-105062051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185471901	chr7:105062051-105062052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547032359	chr7:105062052-105062053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105060400-105079600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:105066400-105067200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:105067200-105069400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:105067600-105067800	Enhancers	Fetal Kidney	kidney
5	chr7:105067800-105069000	Weak transcription	Fetal Kidney	kidney
6	chr7:105069000-105071000	Enhancers	Fetal Kidney	kidney
7	chr7:105069400-105071400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:105070000-105070400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr7:105070200-105070600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr7:105070200-105070600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr7:105070200-105070800	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:105070200-105071000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:105070200-105071000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:105070200-105071000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:105070200-105071000	Enhancers	Adipose Nuclei	Adipose
16	chr7:105070200-105071200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr7:105070200-105071200	Enhancers	NHDF-Ad	bronchial
18	chr7:105070400-105070800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:105070400-105070800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:105070400-105070800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:105070400-105070800	Enhancers	A549	lung
22	chr7:105070400-105070800	Enhancers	K562	blood
23	chr7:105070400-105070800	Enhancers	Osteobl	bone
24	chr7:105070600-105071000	Enhancers	Liver	Liver
25	chr7:105070600-105071000	Enhancers	Fetal Muscle Leg	muscle
26	chr7:105070800-105079000	Weak transcription	K562	blood
27	chr7:105071000-105072400	Weak transcription	Fetal Kidney	kidney
28	chr7:105071200-105075800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:105071400-105078200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:105075600-105076200	Enhancers	NHEK	skin
31	chr7:105075800-105076200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:105075800-105076600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr7:105075800-105080400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr7:105076200-105078800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:105076200-105078800	Weak transcription	NHEK	skin
36	chr7:105077200-105077400	Enhancers	Primary B cells from cord blood	blood
37	chr7:105077400-105084800	Weak transcription	Primary B cells from cord blood	blood
38	chr7:105078200-105078400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:105078400-105079200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:105078600-105080000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:105078800-105079000	Enhancers	NHEK	skin
42	chr7:105078800-105079400	Enhancers	HMEC	breast
43	chr7:105078800-105079600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:105078800-105079600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:105078800-105080200	Enhancers	Placenta Amnion	Placenta Amnion
46	chr7:105078800-105080400	Enhancers	NHDF-Ad	bronchial
47	chr7:105079000-105079800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr7:105079000-105080200	Enhancers	K562	blood
49	chr7:105079000-105080200	Flanking Active TSS	NHEK	skin
50	chr7:105079200-105080000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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