Variant report

Variant	nsv528485
Chromosome Location	chr7:120746209-120763212
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120744759..120747111-chr7:120748384..120750272,2	K562	blood:
2	chr7:120721836..120724207-chr7:120744772..120746398,2	K562	blood:
3	chr7:120627341..120628244-chr7:120747653..120748562,4	MCF-7	breast:
4	chr7:120729541..120731923-chr7:120745410..120747271,2	K562	blood:
5	chr7:120753655..120756147-chr7:120756373..120757912,2	K562	blood:
6	chr7:120756476..120758682-chr7:120764326..120765844,2	K562	blood:
7	chr7:120742066..120745673-chr7:120758680..120764316,5	K562	blood:
8	chr7:120762968..120765297-chr7:120774508..120778182,3	K562	blood:
9	chr7:120756984..120759314-chr7:120759581..120762409,4	K562	blood:
10	chr7:120589647..120592092-chr7:120755972..120758448,2	K562	blood:
11	chr7:120628746..120630644-chr7:120748164..120750985,2	K562	blood:
12	chr7:120722707..120724413-chr7:120743913..120746398,2	K562	blood:
13	chr7:120431798..120432733-chr7:120748046..120748607,2	K562	blood:
14	chr7:120627349..120628383-chr7:120747676..120749167,11	K562	blood:
15	chr7:120739132..120740761-chr7:120746818..120749642,2	K562	blood:
16	chr7:120745709..120748191-chr7:120751470..120754629,3	K562	blood:
17	chr7:120756814..120759282-chr7:120768929..120771906,2	K562	blood:
18	chr7:120633517..120635365-chr7:120747821..120749395,2	K562	blood:
19	chr7:120635913..120636486-chr7:120747716..120748711,2	K562	blood:
20	chr7:120748117..120751439-chr7:120760191..120762453,3	K562	blood:
21	chr7:120742066..120743891-chr7:120758680..120761342,2	K562	blood:
22	chr7:120744759..120747111-chr7:120748384..120750272,2	K562	blood:
23	chr7:120753655..120756147-chr7:120756373..120757912,2	K562	blood:
24	chr7:120732885..120735517-chr7:120747045..120751097,5	K562	blood:
25	chr7:120741938..120744145-chr7:120762816..120764575,2	K562	blood:
26	chr7:120598328..120601764-chr7:120747067..120750480,4	K562	blood:
27	chr7:120750275..120752757-chr7:120754885..120757852,3	K562	blood:
28	chr7:120747233..120749938-chr7:120774365..120776379,3	K562	blood:
29	chr7:120736411..120739349-chr7:120753107..120754976,2	K562	blood:
30	chr7:120626686..120628740-chr7:120746587..120749245,2	K562	blood:
31	chr7:120750275..120752757-chr7:120754885..120757852,3	K562	blood:
32	chr7:120745709..120748191-chr7:120751470..120754629,3	K562	blood:
33	chr7:120736484..120739000-chr7:120756875..120758692,2	K562	blood:
34	chr7:120745612..120749676-chr7:120751128..120754629,5	K562	blood:
35	chr7:120589479..120591049-chr7:120760761..120762508,2	MCF-7	breast:
36	chr7:120590369..120591908-chr7:120749449..120751566,2	K562	blood:
37	chr7:120711582..120714500-chr7:120752923..120755177,2	K562	blood:
38	chr7:120745612..120749676-chr7:120751128..120754629,5	K562	blood:
39	chr7:120748117..120751439-chr7:120760191..120762453,3	K562	blood:
40	chr7:120743098..120745031-chr7:120746646..120748514,3	K562	blood:
41	chr7:120756984..120759314-chr7:120759581..120762409,4	K562	blood:
42	chr7:120445663..120446844-chr7:120747170..120748613,7	K562	blood:
43	chr7:120561753..120563679-chr7:120747463..120748993,2	K562	blood:
44	chr7:120739177..120742283-chr7:120745711..120747787,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106034	chromatin interactions
ENSG00000212628	chromatin interactions
ENSG00000071243	chromatin interactions

Extended variants
information (count: 612 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17143161	chr7:120746209-120746210	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542781572	chr7:120746235-120746236	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs559795016	chr7:120746286-120746287	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549259267	chr7:120746293-120746294	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143788006	chr7:120746315-120746316	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570265730	chr7:120746345-120746346	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533081857	chr7:120746363-120746364	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189870399	chr7:120746397-120746398	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547892561	chr7:120746408-120746409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201003159	chr7:120746420-120746421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375600900	chr7:120746454-120746455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150222442	chr7:120746566-120746567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535410944	chr7:120746618-120746619	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548843316	chr7:120746640-120746641	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570795957	chr7:120746665-120746666	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182130216	chr7:120746742-120746743	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565690692	chr7:120746751-120746752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536256873	chr7:120746796-120746797	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534371156	chr7:120746802-120746803	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75319793	chr7:120746805-120746806	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528768536	chr7:120746828-120746829	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs187092844	chr7:120746839-120746840	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551451820	chr7:120746868-120746869	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537774725	chr7:120746873-120746874	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs79506474	chr7:120746876-120746877	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574130118	chr7:120746877-120746878	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113024557	chr7:120746897-120746898	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559447837	chr7:120746915-120746916	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369411349	chr7:120746927-120746928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375326213	chr7:120746967-120746968	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs28699024	chr7:120747144-120747145	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs798939	chr7:120747228-120747229	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs111974361	chr7:120747233-120747234	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183484094	chr7:120747259-120747260	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs13223036	chr7:120747308-120747309	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
36	rs557464555	chr7:120747315-120747316	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549694128	chr7:120747320-120747321	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563231196	chr7:120747332-120747333	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529132973	chr7:120747333-120747334	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs548963307	chr7:120747377-120747378	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372629208	chr7:120747383-120747384	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs139707310	chr7:120747385-120747386	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113552760	chr7:120747529-120747530	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565509354	chr7:120747545-120747546	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs117206111	chr7:120747546-120747547	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115376337	chr7:120747548-120747549	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113979290	chr7:120747550-120747551	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555606257	chr7:120747558-120747559	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537637408	chr7:120747560-120747561	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557728236	chr7:120747564-120747565	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:120725800-120761800	Weak transcription	Fetal Stomach	stomach
3	chr7:120727800-120756400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:120731200-120747800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:120733000-120747800	Weak transcription	Spleen	Spleen
6	chr7:120735400-120784000	Weak transcription	Right Ventricle	heart
7	chr7:120737400-120747400	Strong transcription	Liver	Liver
8	chr7:120738200-120749200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:120739600-120746400	Strong transcription	HSMM	muscle
10	chr7:120740400-120753000	Weak transcription	Osteobl	bone
11	chr7:120740600-120758800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:120740800-120786000	Weak transcription	Fetal Lung	lung
13	chr7:120741400-120746400	Strong transcription	NHLF	lung
14	chr7:120741400-120782200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:120741800-120765600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:120742000-120810000	Weak transcription	Psoas Muscle	Psoas
17	chr7:120742400-120748200	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:120742800-120752000	Weak transcription	Aorta	Aorta
19	chr7:120742800-120765000	Weak transcription	NHDF-Ad	bronchial
20	chr7:120742800-120771800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:120743000-120748000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:120743000-120750600	Weak transcription	Ovary	ovary
23	chr7:120743000-120765400	Weak transcription	Left Ventricle	heart
24	chr7:120743000-120784200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:120743400-120778200	Strong transcription	K562	blood
26	chr7:120743600-120749000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:120743600-120752800	Weak transcription	HMEC	breast
28	chr7:120743800-120748800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:120743800-120753200	Weak transcription	HSMMtube	muscle
30	chr7:120743800-120765600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:120745600-120747800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:120745600-120747800	Weak transcription	Adipose Nuclei	Adipose
33	chr7:120745600-120749200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:120746200-120768000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:120746200-120777800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:120746400-120747400	Weak transcription	HSMM	muscle
37	chr7:120746400-120750200	Weak transcription	NHLF	lung
38	chr7:120747400-120747600	Enhancers	HSMM	muscle
39	chr7:120747400-120752000	Weak transcription	Liver	Liver
40	chr7:120747600-120747800	Weak transcription	HSMM	muscle
41	chr7:120747800-120748000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:120747800-120748000	Genic enhancers	HSMM	muscle
43	chr7:120747800-120748200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:120747800-120748200	Enhancers	Adipose Nuclei	Adipose
45	chr7:120748000-120748800	Weak transcription	HSMM	muscle
46	chr7:120748000-120749800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:120748000-120750000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:120748200-120749200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:120748200-120752600	Weak transcription	Adipose Nuclei	Adipose
50	chr7:120748800-120749200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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