Variant report

Variant	nsv518760
Chromosome Location	chr7:100110324-100119643
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:15)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100112807..100116489-chr7:100117677..100120389,3	K562	blood:
2	chr7:100112807..100116489-chr7:100117677..100120389,3	K562	blood:
3	chr7:100109320..100110996-chr7:100111395..100113903,2	K562	blood:
4	chr7:100114098..100116911-chr7:100122656..100125319,2	MCF-7	breast:
5	chr7:100106957..100108738-chr7:100117270..100119147,2	K562	blood:
6	chr7:100079728..100082488-chr7:100111418..100113975,2	MCF-7	breast:
7	chr7:100101177..100103275-chr7:100111014..100113501,2	MCF-7	breast:
8	chr7:100108459..100110759-chr7:100131246..100132938,2	K562	blood:
9	chr7:100024662..100027594-chr7:100111226..100113394,3	K562	blood:
10	chr7:100030256..100031765-chr7:100109016..100111307,2	K562	blood:
11	chr7:100117244..100119280-chr7:100140483..100142893,2	K562	blood:
12	chr7:100110542..100112845-chr7:100134966..100137603,2	K562	blood:
13	chr7:100036205..100037986-chr7:100118755..100120624,2	K562	blood:
14	chr7:100112913..100115443-chr7:100182261..100184140,2	K562	blood:
15	chr7:100109320..100110996-chr7:100111395..100113903,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NYAP1-1	chr7:100117507-100117666	XLOC_006192
2	lnc-NYAP1-1	chr7:100114216-100114379	XLOC_006192
3	lnc-NYAP1-1	chr7:100117506-100117666	NONHSAT122380
4	lnc-NYAP1-4	chr7:100112810-100113058	NONHSAT122383
5	lnc-NYAP1-1	chr7:100116998-100117121	NONHSAT122380
6	lnc-NYAP1-1	chr7:100114215-100114379	NONHSAT122380
7	lnc-NYAP1-1	chr7:100116999-100117121	XLOC_006192
8	lnc-NYAP1-1	chr7:100114216-100114379	XLOC_006192
9	lnc-NYAP1-1	chr7:100117507-100117549	XLOC_006192

No data

Variant related genes	Relation type
ENSG00000106336	chromatin interactions
ENSG00000266372	chromatin interactions
ENSG00000225807	chromatin interactions
ENSG00000106351	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000166924	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000077454	chromatin interactions

Extended variants
information (count: 292 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11761624	chr7:100110324-100110325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577594039	chr7:100110349-100110350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556650280	chr7:100110351-100110352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148259833	chr7:100110353-100110354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141463775	chr7:100110371-100110372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563994458	chr7:100110397-100110398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73711116	chr7:100110410-100110411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369162305	chr7:100110456-100110457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553417815	chr7:100110471-100110472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546029542	chr7:100110532-100110533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556576619	chr7:100110541-100110542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529114088	chr7:100110554-100110555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576721410	chr7:100110600-100110601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs550389821	chr7:100110839-100110840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372209095	chr7:100110888-100110889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568954014	chr7:100110900-100110901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556676179	chr7:100110904-100110905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542407742	chr7:100110930-100110931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566512265	chr7:100110961-100110962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs59482999	chr7:100111012-100111013	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs377260718	chr7:100111035-100111036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534490647	chr7:100111045-100111046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs67885733	chr7:100111065-100111066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs375389695	chr7:100111072-100111073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553652062	chr7:100111092-100111093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567741127	chr7:100111118-100111119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112280622	chr7:100111196-100111197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541696252	chr7:100111202-100111203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556356482	chr7:100111244-100111245	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs538522175	chr7:100111251-100111252	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs577721291	chr7:100111268-100111269	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs66648318	chr7:100111319-100111320	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs553741025	chr7:100111337-100111338	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs572154983	chr7:100111357-100111358	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs540135290	chr7:100111370-100111371	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs562050543	chr7:100111466-100111467	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs542375311	chr7:100111481-100111482	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs200359189	chr7:100111490-100111491	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs201312965	chr7:100111504-100111505	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs529049052	chr7:100111522-100111523	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs186541541	chr7:100111532-100111533	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs191364226	chr7:100111557-100111558	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs13233371	chr7:100111634-100111635	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs369444806	chr7:100111636-100111637	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs75903215	chr7:100111649-100111650	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs150860542	chr7:100111668-100111669	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs73154887	chr7:100111700-100111701	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs568412929	chr7:100111703-100111704	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs377682348	chr7:100111752-100111753	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs566450722	chr7:100111758-100111759	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Acute lymphoblastic leukemia	21339820	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
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100091800-100136200	Weak transcription	Right Atrium	heart
2	chr7:100104400-100112800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:100107200-100111800	Weak transcription	NHDF-Ad	bronchial
4	chr7:100107200-100112200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:100107200-100112400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:100107200-100112400	Weak transcription	Adipose Nuclei	Adipose
7	chr7:100107200-100112600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:100107200-100112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:100107200-100112800	Weak transcription	Fetal Lung	lung
10	chr7:100107400-100111800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:100107400-100111800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:100107400-100112600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:100107400-100112600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:100107400-100112600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:100107400-100112600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:100107400-100112600	Weak transcription	Fetal Stomach	stomach
17	chr7:100107400-100112600	Weak transcription	HMEC	breast
18	chr7:100107400-100112600	Weak transcription	NHEK	skin
19	chr7:100107400-100112800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:100107400-100113200	Weak transcription	Placenta	Placenta
21	chr7:100107600-100112600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:100108800-100112400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:100108800-100112600	Weak transcription	HepG2	liver
24	chr7:100109400-100114200	Enhancers	K562	blood
25	chr7:100110800-100111000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr7:100111000-100111200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr7:100111000-100111200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:100111000-100111600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr7:100111200-100111600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:100111200-100111600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr7:100111400-100112600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:100111400-100112600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:100111400-100116400	Enhancers	Primary T cells fromperipheralblood	blood
34	chr7:100111600-100112000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:100111600-100112600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:100111600-100112600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:100111600-100112600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:100111600-100112600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:100111800-100112600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:100111800-100112800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:100111800-100113400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr7:100111800-100114600	Enhancers	NHDF-Ad	bronchial
43	chr7:100111800-100114600	Enhancers	NHLF	lung
44	chr7:100112000-100112400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:100112200-100112400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:100112200-100114600	Enhancers	Fetal Muscle Leg	muscle
47	chr7:100112400-100113000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:100112400-100113000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:100112400-100113400	Enhancers	HUVEC	blood vessel
50	chr7:100112400-100113800	Enhancers	Primary T helper cells fromperipheralblood	blood

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