Variant report

Variant	nsv464675
Chromosome Location	chr7:110813808-110851553
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:110843078..110844596-chr7:110851457..110854141,2	K562	blood:
2	chr7:110846405..110848807-chr7:110859320..110861910,2	K562	blood:
3	chr7:110843078..110846205-chr7:110849161..110854141,4	K562	blood:
4	chr7:110843078..110844596-chr7:110851457..110854141,2	K562	blood:
5	chr7:110822071..110825302-chr7:110827142..110830150,3	K562	blood:
6	chr7:110831361..110833166-chr7:110833300..110836060,2	K562	blood:
7	chr7:110829508..110831617-chr7:110846112..110848748,2	K562	blood:
8	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
9	chr7:110822071..110825302-chr7:110827142..110830150,3	K562	blood:
10	chr7:110812015..110813631-chr7:110817074..110819107,2	K562	blood:
11	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
12	chr7:110850499..110852525-chr7:110861582..110863250,2	K562	blood:
13	chr7:110828459..110830042-chr7:110834757..110837365,2	K562	blood:
14	chr7:110843078..110846205-chr7:110849161..110854141,4	K562	blood:
15	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
16	chr7:110836787..110838968-chr7:110842164..110843669,2	K562	blood:
17	chr7:110843665..110845702-chr7:110845783..110848771,2	K562	blood:
18	chr7:110836787..110838968-chr7:110842164..110843669,2	K562	blood:
19	chr7:110845330..110847607-chr7:110862386..110864699,2	K562	blood:
20	chr7:110828459..110830042-chr7:110834757..110837365,2	K562	blood:
21	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
22	chr7:110831361..110833166-chr7:110833300..110836060,2	K562	blood:
23	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
24	chr7:110843665..110845702-chr7:110845783..110848771,2	K562	blood:
25	chr7:110829508..110831617-chr7:110846112..110848748,2	K562	blood:
26	chr7:110838767..110841477-chr7:110867993..110870087,3	K562	blood:
27	chr7:110846499..110848352-chr7:110867218..110869031,2	MCF-7	breast:
28	chr7:110148252..110150649-chr7:110845950..110847481,2	K562	blood:
29	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:

No data

Extended variants
information (count: 1336 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1336 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2189325	chr7:110813808-110813809	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536208154	chr7:110813815-110813816	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs556070671	chr7:110813830-110813831	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575908464	chr7:110813842-110813843	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs370521703	chr7:110813853-110813854	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs2189323	chr7:110813865-110813866	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572164210	chr7:110813866-110813867	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs143964413	chr7:110813887-110813888	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs560930498	chr7:110813888-110813889	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs79394241	chr7:110813898-110813899	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs543420264	chr7:110813931-110813932	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs556235706	chr7:110813950-110813951	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563207547	chr7:110813961-110813962	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs574412311	chr7:110813964-110813965	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs531901250	chr7:110814008-110814009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545628384	chr7:110814160-110814161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535330500	chr7:110814185-110814186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375785008	chr7:110814226-110814227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527843799	chr7:110814230-110814231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553632861	chr7:110814237-110814238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148603920	chr7:110814250-110814251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181625425	chr7:110814269-110814270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57913555	chr7:110814279-110814280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187136221	chr7:110814302-110814303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571010411	chr7:110814341-110814342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371113028	chr7:110814358-110814359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191572599	chr7:110814476-110814477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569981774	chr7:110814510-110814511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538560765	chr7:110814562-110814563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558776029	chr7:110814567-110814568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533390529	chr7:110814570-110814571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182501072	chr7:110814581-110814582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534788533	chr7:110814588-110814589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115848204	chr7:110814589-110814590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545675949	chr7:110814610-110814611	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574568205	chr7:110814630-110814631	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187134029	chr7:110814655-110814656	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76784552	chr7:110814679-110814680	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7789480	chr7:110814695-110814696	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143167816	chr7:110814752-110814753	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189784105	chr7:110814756-110814757	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527911289	chr7:110814901-110814902	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541213775	chr7:110814950-110814951	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372004170	chr7:110814969-110814970	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2189322	chr7:110814994-110814995	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146381036	chr7:110815027-110815028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549817209	chr7:110815028-110815029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569961479	chr7:110815038-110815039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561499431	chr7:110815162-110815163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139751528	chr7:110815163-110815164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Schizophrenia	23813976	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21509527	CNVD
Glioma	20126413	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110808600-110814000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:110812600-110814800	Enhancers	Colon Smooth Muscle	Colon
3	chr7:110813600-110814000	Flanking Active TSS	K562	blood
4	chr7:110814000-110814600	Enhancers	Brain Germinal Matrix	brain
5	chr7:110814000-110815000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr7:110814000-110830600	Weak transcription	K562	blood
7	chr7:110814600-110815000	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr7:110815000-110815600	Enhancers	Brain Germinal Matrix	brain
9	chr7:110815800-110816600	Enhancers	Primary T cells from cord blood	blood
10	chr7:110815800-110816600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:110816200-110816400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr7:110816200-110816600	Enhancers	Dnd41	blood
13	chr7:110816200-110816800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:110816400-110830600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:110816600-110819600	Weak transcription	Primary T cells from cord blood	blood
16	chr7:110817800-110825200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:110819400-110820200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr7:110819400-110820200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:110819600-110820600	Strong transcription	Primary T cells from cord blood	blood
20	chr7:110820600-110824600	Weak transcription	Primary T cells from cord blood	blood
21	chr7:110822400-110822600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr7:110822400-110823600	Enhancers	Fetal Lung	lung
23	chr7:110823000-110823800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:110823400-110824000	Enhancers	Fetal Heart	heart
25	chr7:110823400-110824000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr7:110823600-110823800	Flanking Active TSS	Fetal Lung	lung
27	chr7:110823600-110824000	Enhancers	Fetal Brain Male	brain
28	chr7:110823800-110824000	Enhancers	Fetal Lung	lung
29	chr7:110824000-110824400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:110824000-110824800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr7:110824000-110825000	Weak transcription	Fetal Brain Male	brain
32	chr7:110824000-110825000	Weak transcription	Fetal Heart	heart
33	chr7:110824400-110825400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr7:110824600-110825400	Enhancers	Primary T cells from cord blood	blood
35	chr7:110825000-110825200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr7:110825000-110825400	Enhancers	Fetal Heart	heart
37	chr7:110825000-110825400	Enhancers	Psoas Muscle	Psoas
38	chr7:110825200-110825400	Enhancers	Fetal Brain Male	brain
39	chr7:110825200-110825400	Enhancers	NH-A	brain
40	chr7:110825400-110825600	Weak transcription	NH-A	brain
41	chr7:110825400-110833000	Weak transcription	Psoas Muscle	Psoas
42	chr7:110828000-110828400	Enhancers	Gastric	stomach
43	chr7:110830600-110830800	Enhancers	K562	blood
44	chr7:110830800-110831200	Flanking Active TSS	K562	blood
45	chr7:110830800-110831400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr7:110831200-110832000	Enhancers	K562	blood
47	chr7:110831400-110832800	Enhancers	A549	lung
48	chr7:110831600-110832000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr7:110831800-110833800	Enhancers	Liver	Liver
50	chr7:110832000-110832800	Weak transcription	K562	blood

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