Variant report

Variant	nsv523466
Chromosome Location	chr7:103547135-103567525
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:103559189..103561458-chr7:103602442..103604552,3	K562	blood:
2	chr7:103564555..103566285-chr7:103650093..103652730,2	K562	blood:
3	chr7:103561421..103564064-chr7:103629667..103633796,3	K562	blood:
4	chr7:103527274..103529978-chr7:103557277..103559784,3	K562	blood:
5	chr7:103559557..103561954-chr7:103587104..103589097,2	K562	blood:
6	chr7:103558897..103560553-chr7:103751201..103753362,2	K562	blood:
7	chr7:103553595..103556030-chr7:103634706..103636900,3	K562	blood:
8	chr7:103553214..103555201-chr7:103575018..103577622,2	K562	blood:
9	chr7:103557671..103561484-chr7:103568838..103571877,3	K562	blood:
10	chr7:103527274..103529840-chr7:103557277..103559784,2	K562	blood:
11	chr7:103532058..103533775-chr7:103563141..103565632,2	K562	blood:
12	chr7:103560989..103563112-chr7:103570075..103571747,2	K562	blood:
13	chr7:103558002..103560953-chr7:103574688..103576849,2	K562	blood:
14	chr7:103510796..103513502-chr7:103565026..103567236,2	K562	blood:
15	chr7:103559740..103561344-chr7:103627840..103629599,2	K562	blood:
16	chr7:103559217..103561458-chr7:103602758..103604552,2	K562	blood:
17	chr7:103517969..103520327-chr7:103557139..103559343,2	K562	blood:
18	chr7:103556407..103559071-chr7:103628860..103631394,2	K562	blood:
19	chr7:103558397..103560497-chr7:103570377..103574513,3	K562	blood:
20	chr7:103562037..103563757-chr7:103575522..103577344,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000189056	chromatin interactions

Extended variants
information (count: 858 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:858 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3857819	chr7:103547135-103547136	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572209021	chr7:103547142-103547143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542890271	chr7:103547161-103547162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560954852	chr7:103547164-103547165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548601094	chr7:103547253-103547254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6943374	chr7:103547294-103547295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144800142	chr7:103547307-103547308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549775747	chr7:103547309-103547310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375766593	chr7:103547351-103547352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564912896	chr7:103547353-103547354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186911499	chr7:103547355-103547356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566759187	chr7:103547370-103547371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552055131	chr7:103547435-103547436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191697765	chr7:103547441-103547442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78499943	chr7:103547495-103547496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549201894	chr7:103547550-103547551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78177975	chr7:103547585-103547586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138643595	chr7:103547591-103547592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184145586	chr7:103547611-103547612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559314413	chr7:103547627-103547628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141730995	chr7:103547631-103547632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6964065	chr7:103547639-103547640	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565514850	chr7:103547648-103547649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372109053	chr7:103547663-103547664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538509725	chr7:103547678-103547679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372920701	chr7:103547682-103547683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200688586	chr7:103547691-103547692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189418901	chr7:103547715-103547716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561088796	chr7:103547732-103547733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71558660	chr7:103547756-103547757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111485076	chr7:103547758-103547759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377673190	chr7:103547763-103547764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192513096	chr7:103547829-103547830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185623143	chr7:103547847-103547848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376014501	chr7:103547849-103547850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71558661	chr7:103547859-103547860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370756904	chr7:103547861-103547862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367774454	chr7:103547862-103547863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60295836	chr7:103547863-103547864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200670752	chr7:103547864-103547865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201371989	chr7:103547865-103547866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532132579	chr7:103547956-103547957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540714064	chr7:103547957-103547958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574516454	chr7:103547980-103547981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560826332	chr7:103547983-103547984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73183743	chr7:103548010-103548011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs73403957	chr7:103548016-103548017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs368247509	chr7:103548041-103548042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531650380	chr7:103548045-103548046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571970830	chr7:103548055-103548056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Prostate cancer	16461572	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
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	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
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103546200-103547800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:103546400-103548400	Weak transcription	HepG2	liver
3	chr7:103546600-103547400	Enhancers	K562	blood
4	chr7:103547400-103548400	Weak transcription	K562	blood
5	chr7:103547800-103548400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:103548400-103548600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:103548400-103548600	Enhancers	Pancreas	Pancrea
8	chr7:103548400-103549600	Strong transcription	K562	blood
9	chr7:103548400-103549800	Strong transcription	HepG2	liver
10	chr7:103549600-103554400	Weak transcription	K562	blood
11	chr7:103549800-103555600	Weak transcription	HepG2	liver
12	chr7:103552600-103553800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:103553200-103553600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:103553200-103553800	Enhancers	Fetal Brain Male	brain
15	chr7:103554400-103555400	Enhancers	K562	blood
16	chr7:103555400-103556600	Genic enhancers	K562	blood
17	chr7:103555600-103556200	Genic enhancers	HepG2	liver
18	chr7:103556200-103556800	Strong transcription	HepG2	liver
19	chr7:103556400-103556800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:103556600-103558800	Enhancers	K562	blood
21	chr7:103556800-103559800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:103556800-103574400	Weak transcription	HepG2	liver
23	chr7:103558800-103561600	Flanking Active TSS	K562	blood
24	chr7:103559400-103560000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:103559600-103560200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:103559600-103560400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:103559800-103560200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:103559800-103560200	Enhancers	Fetal Brain Male	brain
29	chr7:103561600-103564400	Enhancers	K562	blood
30	chr7:103562000-103562400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr7:103564400-103564800	Weak transcription	K562	blood
32	chr7:103564800-103565000	Enhancers	K562	blood
33	chr7:103565000-103571600	Weak transcription	K562	blood

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