Variant report

Variant	nsv889182
Chromosome Location	chr7:125780682-125975251
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:17)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:125717773..125720293-chr7:125877157..125879096,2	K562	blood:
2	chr7:125870675..125872321-chr7:125874700..125877650,2	K562	blood:
3	chr7:125970925..125973009-chr7:125973551..125976319,2	K562	blood:
4	chr7:125779581..125782022-chr7:125791583..125793511,2	K562	blood:
5	chr7:125938484..125941094-chr7:125943803..125945713,2	K562	blood:
6	chr7:125961680..125963760-chr7:125965307..125968021,2	K562	blood:
7	chr7:125782315..125785004-chr7:125785020..125787237,2	MCF-7	breast:
8	chr7:125782315..125785004-chr7:125785020..125787237,2	MCF-7	breast:
9	chr7:125970152..125973009-chr7:125974819..125977190,2	K562	blood:
10	chr7:125842751..125845029-chr7:125853403..125855723,2	K562	blood:
11	chr7:125961680..125963760-chr7:125965307..125968021,2	K562	blood:
12	chr7:125938484..125941094-chr7:125943803..125945713,2	K562	blood:
13	chr7:125779581..125782022-chr7:125791583..125793511,2	K562	blood:
14	chr7:125970925..125973009-chr7:125973551..125976319,2	K562	blood:
15	chr7:125870675..125872321-chr7:125874700..125877650,2	K562	blood:
16	chr7:125970152..125973009-chr7:125974819..125977190,2	K562	blood:
17	chr7:125842751..125845029-chr7:125853403..125855723,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-5	chr7:125886687-125886768	XLOC_006235
2	lnc-ARF5-5	chr7:125870287-125870467	XLOC_006235
3	lnc-ARF5-5	chr7:125924175-125924312	XLOC_006235
4	lnc-ARF5-5	chr7:125886687-125886768	NONHSAT123116
5	lnc-ARF5-5	chr7:125924175-125924216	XLOC_006235
6	lnc-ARF5-5	chr7:125873713-125873937	NONHSAT123116
7	lnc-ARF5-5	chr7:125886687-125886785	XLOC_006235
8	lnc-ARF5-5	chr7:125873591-125873666	XLOC_006235
9	lnc-ARF5-5	chr7:125891205-125891250	NONHSAT123116
10	lnc-ARF5-5	chr7:125870287-125870467	XLOC_006235
11	lnc-ARF5-5	chr7:125873591-125873666	XLOC_006235
12	lnc-ARF5-5	chr7:125870287-125870467	XLOC_006235
13	lnc-ARF5-5	chr7:125873591-125873666	XLOC_006235

No data

Variant related genes	Relation type
FBXO8	miRNA target sites
SLC31A2	miRNA target sites
SLC33A1	miRNA target sites
FBXW7	miRNA target sites
FBXO34	miRNA target sites
SLC30A7	miRNA target sites

Extended variants
information (count: 1082 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1082 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143728193	chr7:125790647-125790648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563283369	chr7:125790649-125790650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530711772	chr7:125790659-125790660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17656707	chr7:125790675-125790676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570785355	chr7:125790693-125790694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534824639	chr7:125790716-125790717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142810227	chr7:125790725-125790726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146332503	chr7:125790858-125790859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs635680	chr7:125790888-125790889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs536092591	chr7:125790893-125790894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139276597	chr7:125790897-125790898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540094474	chr7:125790898-125790899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149972945	chr7:125790902-125790903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192380602	chr7:125790913-125790914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184386243	chr7:125790941-125790942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200176876	chr7:125790984-125790985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377272246	chr7:125790985-125790986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73448826	chr7:125791009-125791010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534319820	chr7:125791019-125791020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73448828	chr7:125791054-125791055	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73448830	chr7:125791126-125791127	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs79363439	chr7:125791160-125791161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73448833	chr7:125791165-125791166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs552037241	chr7:125791166-125791167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187233059	chr7:125791611-125791612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540166390	chr7:125791620-125791621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558448028	chr7:125791631-125791632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573424943	chr7:125791653-125791654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191692528	chr7:125791655-125791656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552649278	chr7:125791659-125791660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184940842	chr7:125791671-125791672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73448839	chr7:125791760-125791761	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189783711	chr7:125791780-125791781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78773355	chr7:125791781-125791782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs650045	chr7:125791790-125791791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs553952	chr7:125791900-125791901	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs545651140	chr7:125791926-125791927	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs563316203	chr7:125791940-125791941	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs180987704	chr7:125791953-125791954	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs111773831	chr7:125791970-125791971	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs561930166	chr7:125791971-125791972	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs73448840	chr7:125791973-125791974	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551074793	chr7:125792002-125792003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184347862	chr7:125792022-125792023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533583683	chr7:125792032-125792033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551643811	chr7:125792043-125792044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111408272	chr7:125792046-125792047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567157823	chr7:125792054-125792055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534223152	chr7:125792057-125792058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552973575	chr7:125792122-125792123	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125790600-125791200	Enhancers	Brain Germinal Matrix	brain
2	chr7:125791600-125792000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:125791600-125792200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:125791600-125792600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:125791800-125792000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:125791800-125792000	Bivalent Enhancer	Fetal Brain Male	brain
7	chr7:125793200-125796600	Weak transcription	Fetal Brain Male	brain
8	chr7:125796600-125796800	ZNF genes & repeats	Fetal Brain Male	brain
9	chr7:125796800-125797200	Weak transcription	Fetal Brain Male	brain
10	chr7:125797200-125797600	Enhancers	Fetal Brain Male	brain
11	chr7:125808600-125809000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:125817400-125820400	Enhancers	Liver	Liver
13	chr7:125825600-125826400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:125825600-125826800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:125825800-125826600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:125825800-125826800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:125825800-125826800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:125825800-125826800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:125825800-125826800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:125826000-125826600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:125826200-125826800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:125826200-125826800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:125850600-125850800	Enhancers	GM12878-XiMat	blood
24	chr7:125850800-125851200	Flanking Active TSS	GM12878-XiMat	blood
25	chr7:125850800-125851800	Enhancers	HMEC	breast
26	chr7:125851000-125851200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:125851200-125852200	Enhancers	GM12878-XiMat	blood
28	chr7:125851200-125852400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:125851400-125854000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:125851800-125853400	Weak transcription	HMEC	breast
31	chr7:125852400-125854600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:125853400-125854400	Enhancers	HMEC	breast
33	chr7:125853800-125854600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:125858800-125859000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:125859000-125863800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:125863800-125864000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:125868000-125869000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:125868000-125869600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:125868000-125869600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:125868400-125868800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:125868400-125869400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:125871600-125871800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:125893800-125894000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:125893800-125894000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:125901800-125902200	Active TSS	GM12878-XiMat	blood
46	chr7:125904800-125905200	Enhancers	Spleen	Spleen
47	chr7:125905200-125905600	Active TSS	Spleen	Spleen
48	chr7:125915200-125916000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:125963800-125964000	Enhancers	Left Ventricle	heart
50	chr7:125966400-125967600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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