Variant report

Variant	nsv981565
Chromosome Location	chr7:102738554-102740317
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:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:102734723..102736667-chr7:102738860..102741819,2	K562	blood:
2	chr7:102715186..102716960-chr7:102734053..102738564,5	K562	blood:
3	chr7:102737570..102739269-chr7:102784132..102785986,2	K562	blood:
4	chr7:102740059..102742895-chr7:102744093..102746013,2	K562	blood:
5	chr7:102739863..102742007-chr7:102746074..102748329,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ARMC10	hsa-miR-7-5p	chr7:102739039-102739060

Variant related genes	Relation type
ENSG00000170632	chromatin interactions
ENSG00000161040	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567001370	chr7:102738572-102738573	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10808123	chr7:102738574-102738575	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10808124	chr7:102738590-102738591	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs117891931	chr7:102738618-102738619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561966418	chr7:102738713-102738714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544495081	chr7:102738730-102738731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183570287	chr7:102738746-102738747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10278727	chr7:102738763-102738764	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142543653	chr7:102738782-102738783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559124273	chr7:102738811-102738812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150955727	chr7:102738813-102738814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367700739	chr7:102738829-102738830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371261612	chr7:102738846-102738847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs14029	chr7:102738862-102738863	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs149661299	chr7:102738906-102738907	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200815485	chr7:102738946-102738947	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144379670	chr7:102738957-102738958	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs527405732	chr7:102739014-102739015	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540388350	chr7:102739029-102739030	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs4729879	chr7:102739043-102739044	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs36110305	chr7:102739085-102739086	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562311397	chr7:102739122-102739123	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10233912	chr7:102739127-102739128	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs551247769	chr7:102739171-102739172	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34745227	chr7:102739179-102739180	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370513780	chr7:102739183-102739184	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1061844	chr7:102739188-102739189	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs35807068	chr7:102739235-102739236	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62482957	chr7:102739267-102739268	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533344030	chr7:102739322-102739323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145378618	chr7:102739392-102739393	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs62482959	chr7:102739448-102739449	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551824572	chr7:102739449-102739450	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566939968	chr7:102739492-102739493	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs534294104	chr7:102739502-102739503	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs150383534	chr7:102739520-102739521	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111532027	chr7:102739527-102739528	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141023579	chr7:102739552-102739553	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113835264	chr7:102739556-102739557	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs548959232	chr7:102739564-102739565	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs567189227	chr7:102739576-102739577	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537683359	chr7:102739635-102739636	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188570730	chr7:102739644-102739645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368778214	chr7:102739646-102739647	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577886693	chr7:102739686-102739687	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113281543	chr7:102739689-102739690	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs62483760	chr7:102739705-102739706	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113805115	chr7:102739708-102739709	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs10267112	chr7:102739762-102739763	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538218538	chr7:102739819-102739820	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102716400-102745400	Weak transcription	Spleen	Spleen
2	chr7:102716600-102746400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:102716600-102746600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:102716600-102746800	Weak transcription	Right Atrium	heart
5	chr7:102716600-102760200	Weak transcription	Lung	lung
6	chr7:102716600-102762200	Weak transcription	Colonic Mucosa	Colon
7	chr7:102716600-102768200	Weak transcription	Right Ventricle	heart
8	chr7:102716800-102753600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:102716800-102768400	Weak transcription	Stomach Mucosa	stomach
10	chr7:102717000-102746600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:102717000-102746800	Weak transcription	Fetal Heart	heart
12	chr7:102717600-102738600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:102717600-102770200	Weak transcription	Small Intestine	intestine
14	chr7:102717800-102768000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:102719400-102769600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:102722200-102738600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:102722600-102738600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:102723400-102738600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:102723400-102738600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:102723400-102746400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:102723600-102738600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:102723600-102746400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:102723800-102738600	Strong transcription	Fetal Thymus	thymus
24	chr7:102724000-102745800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr7:102724000-102760000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:102724000-102770200	Weak transcription	Psoas Muscle	Psoas
27	chr7:102725200-102770200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:102725400-102753600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:102725600-102739400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:102725600-102746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:102725600-102746400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:102725600-102760200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:102725800-102770000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr7:102726200-102742000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr7:102727800-102753400	Weak transcription	Brain Angular Gyrus	brain
36	chr7:102727800-102768000	Weak transcription	Fetal Brain Male	brain
37	chr7:102728000-102760000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:102728600-102753400	Weak transcription	NHDF-Ad	bronchial
39	chr7:102729800-102745800	Weak transcription	HepG2	liver
40	chr7:102730000-102744200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:102730200-102742600	Weak transcription	NHLF	lung
42	chr7:102730200-102746400	Weak transcription	Ovary	ovary
43	chr7:102730200-102760200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr7:102730200-102769600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:102730400-102740800	Weak transcription	HUVEC	blood vessel
46	chr7:102730600-102740400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:102730600-102740400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:102730600-102740800	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:102730600-102742800	Weak transcription	Brain Anterior Caudate	brain
50	chr7:102731000-102753400	Weak transcription	Hela-S3	cervix

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