Variant report

Variant	nsv366350
Chromosome Location	chr7:116569927-116573535
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:36)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116570189..116571088-chr7:116764532..116765333,2	K562	blood:
2	chr7:116569475..116571657-chr7:116592884..116594472,2	MCF-7	breast:
3	chr7:116570148..116571132-chr7:116852812..116853758,4	K562	blood:
4	chr7:116557404..116561072-chr7:116567108..116571328,4	K562	blood:
5	chr7:116570554..116571105-chr7:116628097..116628835,2	K562	blood:
6	chr7:116570547..116571325-chr7:116759326..116759935,3	MCF-7	breast:
7	chr7:116569093..116572141-chr7:116765850..116768047,3	K562	blood:
8	chr7:116570171..116571182-chr7:116652604..116653376,5	K562	blood:
9	7:115847372-115857098..7:116568602-116574330	GM12878	blood:
10	7:116568602-116574330..7:116754962-116765597	GM12878	blood:
11	chr7:116571000..116573926-chr7:116760431..116762728,3	MCF-7	breast:
12	chr7:116571244..116573563-chr7:116761792..116763514,2	MCF-7	breast:
13	chr7:115778002..115778876-chr7:116570600..116571133,2	K562	blood:
14	7:116568602-116574330..7:116957165-116964911	H1-hESC	embryonic stem cell:	embryo
15	chr7:116569154..116573118-chr7:116592518..116595104,9	MCF-7	breast:
16	chr7:116570648..116573225-chr7:116591473..116596251,5	K562	blood:
17	chr7:116563032..116565216-chr7:116567059..116570510,3	K562	blood:
18	chr7:116570164..116571206-chr7:116758946..116760107,5	MCF-7	breast:
19	chr7:116569534..116572103-chr7:116572304..116574237,2	K562	blood:
20	chr7:116567075..116568820-chr7:116569252..116572115,2	MCF-7	breast:
21	chr7:116569687..116574376-chr7:116579850..116586721,6	K562	blood:
22	7:116568602-116574330..7:116728195-116740907	GM12878	blood:
23	chr7:116569093..116573225-chr7:116592050..116596557,6	K562	blood:
24	chr7:116572167..116574220-chr7:116592125..116593792,2	MCF-7	breast:
25	chr7:116570128..116571717-chr7:116758838..116760182,19	K562	blood:
26	chr7:116570499..116571103-chr7:116652412..116652980,2	MCF-7	breast:
27	chr7:116570829..116573211-chr7:116585844..116587737,2	MCF-7	breast:
28	7:116568602-116574330..7:116651084-116657331	GM12878	blood:
29	chr7:116570194..116571338-chr7:116767371..116768123,3	MCF-7	breast:
30	chr7:116570010..116572826-chr7:116583507..116585407,2	K562	blood:
31	chr7:116570123..116571416-chr7:116767082..116768498,17	K562	blood:
32	chr7:116569534..116572103-chr7:116572304..116574237,2	K562	blood:
33	chr7:116570597..116571199-chr7:116588971..116589553,2	K562	blood:
34	chr7:116512871..116514747-chr7:116571202..116574022,2	K562	blood:
35	chr7:116569834..116572713-chr7:116615771..116619319,3	MCF-7	breast:
36	chr7:116562487..116565467-chr7:116567653..116570595,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPZA2-1	chr7:116570565-116570828	FPKM1_group_30214_transcript_1

No data

Variant related genes	Relation type
ENSG00000004866	chromatin interactions
ENSG00000222150	chromatin interactions
ENSG00000214188	chromatin interactions
ENSG00000227199	chromatin interactions
ENSG00000105989	chromatin interactions
ENSG00000226367	chromatin interactions
ENSG00000135269	chromatin interactions

Extended variants
information (count: 142 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574291834	chr7:116569937-116569938	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs541411078	chr7:116569951-116569952	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs12706123	chr7:116570027-116570028	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs150530910	chr7:116570045-116570046	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs114748038	chr7:116570065-116570066	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs527666842	chr7:116570071-116570072	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs563797497	chr7:116570077-116570078	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs117361143	chr7:116570078-116570079	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs139528002	chr7:116570114-116570115	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs561229065	chr7:116570133-116570134	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs528423260	chr7:116570138-116570139	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs546555251	chr7:116570161-116570162	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs568281251	chr7:116570176-116570177	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs115203483	chr7:116570191-116570192	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs73210115	chr7:116570200-116570201	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550214918	chr7:116570217-116570218	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs181658520	chr7:116570230-116570231	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs111387298	chr7:116570245-116570246	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs549211819	chr7:116570278-116570279	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs199838006	chr7:116570337-116570338	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs530314340	chr7:116570402-116570403	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs567925677	chr7:116570461-116570462	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs10237255	chr7:116570510-116570511	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147826732	chr7:116570521-116570522	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs577933662	chr7:116570544-116570545	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs539041483	chr7:116570550-116570551	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs547841700	chr7:116570584-116570585	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
28	rs141382938	chr7:116570658-116570659	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
29	rs185994124	chr7:116570705-116570706	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
30	rs575850602	chr7:116570712-116570713	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
31	rs542841455	chr7:116570736-116570737	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
32	rs12532926	chr7:116570738-116570739	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573077269	chr7:116570745-116570746	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
34	rs540122825	chr7:116570761-116570762	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
35	rs565187941	chr7:116570775-116570776	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
36	rs531940791	chr7:116570780-116570781	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
37	rs550200709	chr7:116570847-116570848	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs190538594	chr7:116570878-116570879	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs565361467	chr7:116570900-116570901	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs529765359	chr7:116570951-116570952	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs539408020	chr7:116570953-116570954	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs549537922	chr7:116570978-116570979	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs556179231	chr7:116571042-116571043	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs111719414	chr7:116571070-116571071	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs567720698	chr7:116571075-116571076	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs376347862	chr7:116571143-116571144	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs535239870	chr7:116571195-116571196	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs546933072	chr7:116571253-116571254	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs181401934	chr7:116571260-116571261	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs139792754	chr7:116571274-116571275	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	16397240	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	21569311	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116544400-116570600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:116552000-116570600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:116553200-116570600	Weak transcription	Brain Substantia Nigra	brain
4	chr7:116555400-116570400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:116556800-116570600	Weak transcription	Aorta	Aorta
6	chr7:116557000-116570800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:116557000-116570800	Weak transcription	NHEK	skin
8	chr7:116558000-116570600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:116558000-116570600	Weak transcription	Lung	lung
10	chr7:116558000-116570800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:116558200-116570400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:116558200-116570400	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:116558200-116570600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:116558200-116570800	Weak transcription	HMEC	breast
15	chr7:116558400-116570600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:116558400-116570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:116558400-116570600	Weak transcription	Brain Anterior Caudate	brain
18	chr7:116558400-116570800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:116558600-116570400	Weak transcription	Fetal Lung	lung
20	chr7:116558600-116570600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:116558800-116570400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:116558800-116570400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:116559000-116570200	Weak transcription	Placenta	Placenta
24	chr7:116559000-116570400	Weak transcription	Dnd41	blood
25	chr7:116559000-116570400	Weak transcription	Hela-S3	cervix
26	chr7:116559200-116570600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:116559200-116570600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:116559200-116570600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:116559200-116576000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:116559600-116570400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:116559600-116570400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:116559600-116570600	Weak transcription	GM12878-XiMat	blood
33	chr7:116559600-116570800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:116559600-116570800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:116559600-116570800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:116560800-116570600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr7:116560800-116570600	Weak transcription	Liver	Liver
38	chr7:116561000-116570200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:116561000-116570400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:116561200-116570400	Weak transcription	A549	lung
41	chr7:116561200-116570600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr7:116561200-116570600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:116561400-116570000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:116562400-116570600	Weak transcription	HUVEC	blood vessel
45	chr7:116562600-116570600	Weak transcription	Fetal Intestine Small	intestine
46	chr7:116567800-116570000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:116568400-116570200	Enhancers	HepG2	liver
48	chr7:116568600-116571400	Enhancers	Fetal Brain Male	brain
49	chr7:116569000-116570600	Weak transcription	Fetal Heart	heart
50	chr7:116569200-116570600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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