Variant report

Variant	nsv888682
Chromosome Location	chr7:87068464-87103263
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:87051942..87054838-chr7:87071863..87073802,2	K562	blood:
2	chr7:87075903..87078103-chr7:87080060..87082449,2	K562	blood:
3	chr7:86568193..86568776-chr7:87081301..87082150,2	MCF-7	breast:
4	chr7:87073633..87076529-chr7:87078114..87081650,4	K562	blood:
5	chr7:87064330..87066764-chr7:87067722..87070554,3	K562	blood:
6	chr7:87060366..87063144-chr7:87081442..87083012,2	MCF-7	breast:
7	chr7:87064944..87067466-chr7:87067483..87069471,2	MCF-7	breast:
8	chr7:87075903..87078103-chr7:87080060..87082449,2	K562	blood:
9	chr7:86972942..86975537-chr7:87069538..87072015,2	MCF-7	breast:
10	chr7:87073633..87076529-chr7:87078114..87081650,4	K562	blood:
11	chr7:86848248..86850327-chr7:87074296..87076315,2	MCF-7	breast:
12	chr7:87043780..87045715-chr7:87084104..87086345,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000005469	chromatin interactions
ENSG00000005471	chromatin interactions
ENSG00000135185	chromatin interactions
ENSG00000182165	chromatin interactions

Extended variants
information (count: 1279 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1279 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs31674	chr7:87068464-87068465	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182347635	chr7:87068467-87068468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544589935	chr7:87068480-87068481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs45449000	chr7:87068488-87068489	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs45580137	chr7:87068498-87068499	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542674958	chr7:87068541-87068542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16885816	chr7:87068547-87068548	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145939137	chr7:87068578-87068579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186955275	chr7:87068640-87068641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565165872	chr7:87068658-87068659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191861004	chr7:87068672-87068673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs45558536	chr7:87068691-87068692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570005386	chr7:87068707-87068708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs45510099	chr7:87068873-87068874	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183256979	chr7:87068888-87068889	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567469410	chr7:87068913-87068914	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114263062	chr7:87068933-87068934	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112053359	chr7:87068950-87068951	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs387906527	chr7:87069002-87069003	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370315075	chr7:87069027-87069028	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553184787	chr7:87069031-87069032	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185760690	chr7:87069035-87069036	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374746433	chr7:87069063-87069064	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539294080	chr7:87069064-87069065	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs121918441	chr7:87069077-87069078	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397514620	chr7:87069081-87069082	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140631210	chr7:87069090-87069091	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs66904256	chr7:87069093-87069094	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144302326	chr7:87069122-87069123	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs8187797	chr7:87069130-87069131	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs368046518	chr7:87069136-87069137	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190128558	chr7:87069187-87069188	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542262102	chr7:87069224-87069225	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567130893	chr7:87069294-87069295	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560960775	chr7:87069312-87069313	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112890784	chr7:87069335-87069336	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs45451092	chr7:87069342-87069343	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112344665	chr7:87069345-87069346	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs45568342	chr7:87069351-87069352	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs146128431	chr7:87069412-87069413	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs45471996	chr7:87069431-87069432	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs45585235	chr7:87069442-87069443	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs45545435	chr7:87069480-87069481	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538315430	chr7:87069493-87069494	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200043060	chr7:87069509-87069510	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201931174	chr7:87069545-87069546	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs375315619	chr7:87069546-87069547	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs534819914	chr7:87069564-87069565	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529716556	chr7:87069567-87069568	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs368361252	chr7:87069613-87069614	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	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
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86980000-87085600	Weak transcription	Right Ventricle	heart
2	chr7:87019800-87079400	Strong transcription	Liver	Liver
3	chr7:87024800-87093200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:87040800-87072400	Weak transcription	Aorta	Aorta
5	chr7:87040800-87085600	Weak transcription	Psoas Muscle	Psoas
6	chr7:87047000-87078000	Strong transcription	Primary B cells from cord blood	blood
7	chr7:87051200-87085600	Weak transcription	Fetal Heart	heart
8	chr7:87052200-87072000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:87055800-87075000	Weak transcription	GM12878-XiMat	blood
10	chr7:87056200-87075200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr7:87062200-87070400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:87064000-87069200	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:87064600-87077800	Weak transcription	Spleen	Spleen
14	chr7:87065000-87077800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:87066800-87072000	Weak transcription	HepG2	liver
16	chr7:87066800-87085600	Weak transcription	Left Ventricle	heart
17	chr7:87068000-87069400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:87068800-87069200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:87068800-87069200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:87069000-87069600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:87069200-87071800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:87069400-87071800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:87070400-87072800	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:87071800-87072800	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:87071800-87073200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:87072000-87073800	Strong transcription	HepG2	liver
27	chr7:87072400-87072800	Genic enhancers	Aorta	Aorta
28	chr7:87072600-87073600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:87072800-87077800	Weak transcription	Aorta	Aorta
30	chr7:87072800-87079000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:87072800-87079200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:87073200-87087000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:87073800-87076400	Weak transcription	HepG2	liver
34	chr7:87074200-87074600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:87074600-87079000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:87075000-87075600	Enhancers	GM12878-XiMat	blood
37	chr7:87075200-87075600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr7:87075200-87075600	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr7:87075600-87081800	Weak transcription	GM12878-XiMat	blood
40	chr7:87075600-87094800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr7:87076400-87081600	Strong transcription	HepG2	liver
42	chr7:87076600-87077000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr7:87076800-87077200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:87077000-87078400	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr7:87077600-87078000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:87077600-87078000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:87077600-87078000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr7:87077800-87078000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:87077800-87078000	ZNF genes & repeats	Aorta	Aorta
50	chr7:87077800-87078000	Enhancers	Spleen	Spleen

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