Variant report

Variant	nsv888979
Chromosome Location	chr7:110827173-110915339
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:63)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:110828459..110830042-chr7:110834757..110837365,2	K562	blood:
2	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
3	chr7:110860948..110867491-chr7:110867576..110875570,9	K562	blood:
4	chr7:110873178..110876028-chr7:110879023..110881102,2	K562	blood:
5	chr7:110860948..110867491-chr7:110867576..110875570,9	K562	blood:
6	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
7	chr7:110901427..110902958-chr7:110904579..110907166,2	MCF-7	breast:
8	chr7:110865069..110867467-chr7:110870810..110872460,2	K562	blood:
9	chr7:110875743..110879019-chr7:110880390..110884102,5	K562	blood:
10	chr7:110907955..110909675-chr7:110912861..110914751,2	K562	blood:
11	chr7:110822071..110825302-chr7:110827142..110830150,3	K562	blood:
12	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
13	chr7:110876830..110878652-chr7:110880390..110881983,2	K562	blood:
14	chr7:110836787..110838968-chr7:110842164..110843669,2	K562	blood:
15	chr7:110910606..110912820-chr7:110916912..110919074,2	K562	blood:
16	chr7:110845330..110847607-chr7:110862386..110864699,2	K562	blood:
17	chr7:110831361..110833166-chr7:110833300..110836060,2	K562	blood:
18	chr7:110838767..110841477-chr7:110867993..110870087,3	K562	blood:
19	chr7:110873178..110876028-chr7:110879023..110881102,2	K562	blood:
20	chr7:110907955..110909675-chr7:110912861..110914751,2	K562	blood:
21	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
22	chr7:110829508..110831617-chr7:110846112..110848748,2	K562	blood:
23	chr7:110901387..110901887-chr9:130159518..130160059,2	Hela-S3	cervix:
24	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
25	chr7:110875743..110879019-chr7:110880390..110884102,5	K562	blood:
26	chr7:110828459..110830042-chr7:110834757..110837365,2	K562	blood:
27	chr7:110864193..110867019-chr7:110872692..110875184,2	K562	blood:
28	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
29	chr7:110867615..110869914-chr7:110870998..110874841,5	K562	blood:
30	chr7:110843665..110845702-chr7:110845783..110848771,2	K562	blood:
31	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
32	chr7:110904002..110906677-chr7:110908987..110911839,2	K562	blood:
33	chr7:110890356..110892390-chr7:110893967..110896589,2	K562	blood:
34	chr7:110831361..110833166-chr7:110833300..110836060,2	K562	blood:
35	chr7:110850499..110852525-chr7:110861582..110863250,2	K562	blood:
36	chr7:110845330..110847607-chr7:110862386..110864699,2	K562	blood:
37	chr7:110846405..110848807-chr7:110859320..110861910,2	K562	blood:
38	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
39	chr7:110858722..110860508-chr7:110869419..110871427,2	K562	blood:
40	chr7:110846499..110848352-chr7:110867218..110869031,2	MCF-7	breast:
41	chr7:110843078..110844596-chr7:110851457..110854141,2	K562	blood:
42	chr7:110890356..110892390-chr7:110893967..110896589,2	K562	blood:
43	chr7:110867615..110869914-chr7:110870998..110874841,5	K562	blood:
44	chr7:110829508..110831617-chr7:110846112..110848748,2	K562	blood:
45	chr7:110901427..110902958-chr7:110904579..110907166,2	MCF-7	breast:
46	chr7:110911704..110914495-chr7:111113882..111116767,2	K562	blood:
47	chr7:110858722..110860508-chr7:110869419..110871427,2	K562	blood:
48	chr7:110843078..110846205-chr7:110849161..110854141,4	K562	blood:
49	chr7:110864193..110867019-chr7:110872692..110875184,2	K562	blood:
50	chr7:110843665..110845702-chr7:110845783..110848771,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DOCK4-7	chr7:110902289-110902553	expReg_chr7_8342_-

No data

Variant related genes	Relation type
ENSG00000136856	chromatin interactions

Extended variants
information (count: 3104 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3104 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs769130	chr7:110827173-110827174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187681705	chr7:110827201-110827202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545255850	chr7:110827217-110827218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531634960	chr7:110827267-110827268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546394496	chr7:110827357-110827358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571259333	chr7:110827383-110827384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545079116	chr7:110827439-110827440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190960082	chr7:110827547-110827548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116759409	chr7:110827570-110827571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567368436	chr7:110827572-110827573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62466687	chr7:110827587-110827588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556018839	chr7:110827592-110827593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13438736	chr7:110827623-110827624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530908660	chr7:110827627-110827628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6979545	chr7:110827677-110827678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558597743	chr7:110827701-110827702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568729547	chr7:110827711-110827712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370704788	chr7:110827767-110827768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541278414	chr7:110827804-110827805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375220500	chr7:110827823-110827824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6979841	chr7:110827830-110827831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs182576763	chr7:110827834-110827835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557644785	chr7:110827854-110827855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76405722	chr7:110827875-110827876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186895378	chr7:110827897-110827898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73714686	chr7:110827922-110827923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192104006	chr7:110827938-110827939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140879456	chr7:110827941-110827942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527648322	chr7:110827999-110828000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547401048	chr7:110828011-110828012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201488481	chr7:110828020-110828021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536106242	chr7:110828066-110828067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543389442	chr7:110828158-110828159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74546485	chr7:110828174-110828175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7795220	chr7:110828239-110828240	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs184194784	chr7:110828288-110828289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188622791	chr7:110828293-110828294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116854131	chr7:110828307-110828308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568547431	chr7:110828412-110828413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554210251	chr7:110828413-110828414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574270098	chr7:110828441-110828442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374697519	chr7:110828462-110828463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542904004	chr7:110828475-110828476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193148995	chr7:110828476-110828477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576193198	chr7:110828485-110828486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545119933	chr7:110828487-110828488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535825190	chr7:110828526-110828527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527712440	chr7:110828544-110828545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185602878	chr7:110828582-110828583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143985121	chr7:110828587-110828588	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:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110814000-110830600	Weak transcription	K562	blood
2	chr7:110816400-110830600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:110825400-110833000	Weak transcription	Psoas Muscle	Psoas
4	chr7:110828000-110828400	Enhancers	Gastric	stomach
5	chr7:110830600-110830800	Enhancers	K562	blood
6	chr7:110830800-110831200	Flanking Active TSS	K562	blood
7	chr7:110830800-110831400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:110831200-110832000	Enhancers	K562	blood
9	chr7:110831400-110832800	Enhancers	A549	lung
10	chr7:110831600-110832000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:110831800-110833800	Enhancers	Liver	Liver
12	chr7:110832000-110832800	Weak transcription	K562	blood
13	chr7:110832400-110833400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:110832600-110833000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:110832600-110833200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:110832600-110833400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:110832600-110833600	Enhancers	HepG2	liver
18	chr7:110832800-110833000	Enhancers	K562	blood
19	chr7:110832800-110833200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:110832800-110833200	Flanking Active TSS	A549	lung
21	chr7:110832800-110833600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:110833000-110833200	Enhancers	Psoas Muscle	Psoas
23	chr7:110833000-110833400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:110833000-110833600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:110833000-110834200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:110833200-110833400	Active TSS	A549	lung
27	chr7:110833200-110833800	Weak transcription	Psoas Muscle	Psoas
28	chr7:110833400-110837800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:110834200-110834600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr7:110835400-110837600	Weak transcription	HSMM	muscle
31	chr7:110836000-110836200	Enhancers	Psoas Muscle	Psoas
32	chr7:110836600-110836800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:110836800-110837600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:110837400-110838000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:110837400-110838200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:110837400-110840000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:110837600-110837800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:110837600-110837800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:110837600-110838000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:110837600-110838000	Enhancers	NHDF-Ad	bronchial
41	chr7:110837600-110838200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:110837600-110839200	Enhancers	HMEC	breast
43	chr7:110837600-110839200	Enhancers	NH-A	brain
44	chr7:110837600-110839200	Enhancers	NHEK	skin
45	chr7:110837600-110839200	Enhancers	NHLF	lung
46	chr7:110837600-110839400	Enhancers	HSMM	muscle
47	chr7:110837600-110839800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:110837600-110840000	Enhancers	Osteobl	bone
49	chr7:110837800-110838200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:110837800-110838400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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