Variant report

Variant	nsv888685
Chromosome Location	chr7:87075362-87101407
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:87073633..87076529-chr7:87078114..87081650,4	K562	blood:
2	chr7:87075903..87078103-chr7:87080060..87082449,2	K562	blood:
3	chr7:87060366..87063144-chr7:87081442..87083012,2	MCF-7	breast:
4	chr7:87075903..87078103-chr7:87080060..87082449,2	K562	blood:
5	chr7:86848248..86850327-chr7:87074296..87076315,2	MCF-7	breast:
6	chr7:87073633..87076529-chr7:87078114..87081650,4	K562	blood:
7	chr7:87043780..87045715-chr7:87084104..87086345,2	MCF-7	breast:
8	chr7:86568193..86568776-chr7:87081301..87082150,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135185	chromatin interactions
ENSG00000005471	chromatin interactions

Extended variants
information (count: 973 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:973 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4148824	chr7:87075362-87075363	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs45493691	chr7:87075377-87075378	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535842247	chr7:87075378-87075379	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs45532833	chr7:87075455-87075456	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs71562754	chr7:87075524-87075525	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138512613	chr7:87075525-87075526	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539896103	chr7:87075528-87075529	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111568114	chr7:87075534-87075535	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187325818	chr7:87075562-87075563	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191864361	chr7:87075575-87075576	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576536347	chr7:87075610-87075611	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183986933	chr7:87075650-87075651	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555635300	chr7:87075662-87075663	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574034785	chr7:87075675-87075676	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540608033	chr7:87075687-87075688	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536612772	chr7:87075690-87075691	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558950830	chr7:87075735-87075736	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs45479197	chr7:87075740-87075741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73705208	chr7:87075759-87075760	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs45500697	chr7:87075766-87075767	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs45489091	chr7:87075803-87075804	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs45523138	chr7:87075882-87075883	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528426201	chr7:87075982-87075983	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546940244	chr7:87075985-87075986	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs17149617	chr7:87076008-87076009	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs564965326	chr7:87076009-87076010	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539456062	chr7:87076018-87076019	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs4148823	chr7:87076144-87076145	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111900844	chr7:87076194-87076195	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs45505300	chr7:87076252-87076253	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552155946	chr7:87076284-87076285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs368679076	chr7:87076309-87076310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555573921	chr7:87076319-87076320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375044167	chr7:87076327-87076328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573973509	chr7:87076352-87076353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368756976	chr7:87076354-87076355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372710167	chr7:87076388-87076389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72552778	chr7:87076396-87076397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569867597	chr7:87076419-87076420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199504845	chr7:87076428-87076429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187810223	chr7:87076431-87076432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374836252	chr7:87076444-87076445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72552779	chr7:87076453-87076454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553400352	chr7:87076454-87076455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577519098	chr7:87076473-87076474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544727349	chr7:87076476-87076477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201286053	chr7:87076480-87076481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192745823	chr7:87076507-87076508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575280378	chr7:87076520-87076521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371679608	chr7:87076557-87076558	Weak transcription Strong transcription	n/a	n/a	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:188 , 50 per page) page: 1 2 3 4

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	chr7:87040800-87085600	Weak transcription	Psoas Muscle	Psoas
5	chr7:87047000-87078000	Strong transcription	Primary B cells from cord blood	blood
6	chr7:87051200-87085600	Weak transcription	Fetal Heart	heart
7	chr7:87064600-87077800	Weak transcription	Spleen	Spleen
8	chr7:87065000-87077800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:87066800-87085600	Weak transcription	Left Ventricle	heart
10	chr7:87072800-87077800	Weak transcription	Aorta	Aorta
11	chr7:87072800-87079000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:87072800-87079200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:87073200-87087000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:87073800-87076400	Weak transcription	HepG2	liver
15	chr7:87074600-87079000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:87075000-87075600	Enhancers	GM12878-XiMat	blood
17	chr7:87075200-87075600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr7:87075200-87075600	Genic enhancers	Primary B cells from peripheral blood	blood
19	chr7:87075600-87081800	Weak transcription	GM12878-XiMat	blood
20	chr7:87075600-87094800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr7:87076400-87081600	Strong transcription	HepG2	liver
22	chr7:87076600-87077000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr7:87076800-87077200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:87077000-87078400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr7:87077600-87078000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:87077600-87078000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:87077600-87078000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:87077800-87078000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:87077800-87078000	ZNF genes & repeats	Aorta	Aorta
30	chr7:87077800-87078000	Enhancers	Spleen	Spleen
31	chr7:87077800-87078200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:87077800-87078200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:87078000-87079000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:87078000-87079000	Weak transcription	Primary B cells from cord blood	blood
35	chr7:87078000-87087400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:87078000-87087600	Weak transcription	Aorta	Aorta
37	chr7:87079000-87079200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:87079000-87079400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:87079000-87079400	Strong transcription	Primary B cells from cord blood	blood
40	chr7:87079000-87079400	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:87079200-87079600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:87079200-87081200	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:87079400-87080600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:87079400-87080800	Weak transcription	Primary B cells from cord blood	blood
45	chr7:87079400-87082200	Genic enhancers	Liver	Liver
46	chr7:87079400-87085400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:87079600-87087400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:87080600-87082400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:87080800-87082200	Strong transcription	Primary B cells from cord blood	blood
50	chr7:87081200-87085000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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