Variant report

Variant	nsv1016762
Chromosome Location	chr7:110769068-110883479
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:78)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:78 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:110858722..110860508-chr7:110869419..110871427,2	K562	blood:
2	chr7:110807402..110810065-chr7:110811637..110813724,2	K562	blood:
3	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
4	chr7:110784339..110787250-chr7:110788420..110790472,2	K562	blood:
5	chr7:110828459..110830042-chr7:110834757..110837365,2	K562	blood:
6	chr7:110843078..110844596-chr7:110851457..110854141,2	K562	blood:
7	chr7:110850499..110852525-chr7:110861582..110863250,2	K562	blood:
8	chr7:110791972..110793619-chr7:110796651..110798355,2	K562	blood:
9	chr7:110794617..110796472-chr7:110809802..110811971,2	K562	blood:
10	chr7:110845330..110847607-chr7:110862386..110864699,2	K562	blood:
11	chr7:110838767..110841477-chr7:110867993..110870087,3	K562	blood:
12	chr7:110843078..110846205-chr7:110849161..110854141,4	K562	blood:
13	chr7:110831361..110833166-chr7:110833300..110836060,2	K562	blood:
14	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
15	chr7:110864193..110867019-chr7:110872692..110875184,2	K562	blood:
16	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
17	chr7:110730146..110732609-chr7:110768211..110770026,2	K562	blood:
18	chr7:110828459..110830042-chr7:110834757..110837365,2	K562	blood:
19	chr7:110873178..110876028-chr7:110879023..110881102,2	K562	blood:
20	chr7:110858722..110860508-chr7:110869419..110871427,2	K562	blood:
21	chr7:110812015..110813631-chr7:110817074..110819107,2	K562	blood:
22	chr7:110876830..110878652-chr7:110880390..110881983,2	K562	blood:
23	chr7:110858379..110861216-chr7:110867269..110869936,2	MCF-7	breast:
24	chr7:110822071..110825302-chr7:110827142..110830150,3	K562	blood:
25	chr7:110772454..110774520-chr7:110775705..110777791,2	K562	blood:
26	chr7:110790879..110793527-chr7:110798511..110801255,3	K562	blood:
27	chr7:110780555..110783082-chr7:110783527..110786521,2	K562	blood:
28	chr7:110838767..110841477-chr7:110867993..110870087,3	K562	blood:
29	chr7:110812015..110813631-chr7:110817074..110819107,2	K562	blood:
30	chr7:110846405..110848807-chr7:110859320..110861910,2	K562	blood:
31	chr7:110836787..110838968-chr7:110842164..110843669,2	K562	blood:
32	chr7:110836787..110838968-chr7:110842164..110843669,2	K562	blood:
33	chr7:110790879..110793527-chr7:110798511..110801255,3	K562	blood:
34	chr7:110864193..110867019-chr7:110872692..110875184,2	K562	blood:
35	chr7:110858379..110861216-chr7:110867269..110869936,2	MCF-7	breast:
36	chr7:110865069..110867467-chr7:110870810..110872460,2	K562	blood:
37	chr7:110875743..110879019-chr7:110880390..110884102,5	K562	blood:
38	chr7:110850499..110852525-chr7:110861582..110863250,2	K562	blood:
39	chr7:110787029..110788702-chr7:110791625..110793971,2	K562	blood:
40	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
41	chr7:110792860..110795164-chr7:110801067..110803231,2	MCF-7	breast:
42	chr7:110860948..110867491-chr7:110867576..110875570,9	K562	blood:
43	chr7:110831361..110833166-chr7:110833300..110836060,2	K562	blood:
44	chr7:110799581..110802084-chr7:110811577..110813562,2	K562	blood:
45	chr7:110843665..110845702-chr7:110845783..110848771,2	K562	blood:
46	chr7:110829508..110831617-chr7:110846112..110848748,2	K562	blood:
47	chr7:110843665..110845702-chr7:110845783..110848771,2	K562	blood:
48	chr7:110873178..110876028-chr7:110879023..110881102,2	K562	blood:
49	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
50	chr7:110843078..110844596-chr7:110851457..110854141,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173114	chromatin interactions

Extended variants
information (count: 3921 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:3921 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533383895	chr7:110769086-110769087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs28729497	chr7:110769233-110769234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566770540	chr7:110769235-110769236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535640545	chr7:110769271-110769272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549511693	chr7:110769326-110769327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561827612	chr7:110769331-110769332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs114192785	chr7:110769335-110769336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs214861	chr7:110769399-110769400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530868123	chr7:110769407-110769408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556354352	chr7:110769442-110769443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563359168	chr7:110769469-110769470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557902884	chr7:110769471-110769472	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs578057119	chr7:110769483-110769484	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534131567	chr7:110769505-110769506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554101416	chr7:110769537-110769538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs149267844	chr7:110769615-110769616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542461973	chr7:110769654-110769655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562675919	chr7:110769663-110769664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576073717	chr7:110769681-110769682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545070487	chr7:110769764-110769765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs28533798	chr7:110769827-110769828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs117936295	chr7:110769836-110769837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546929449	chr7:110769840-110769841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189003016	chr7:110769946-110769947	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529540824	chr7:110769950-110769951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549331076	chr7:110769964-110769965	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569397843	chr7:110769978-110769979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576499459	chr7:110770025-110770026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144505830	chr7:110770046-110770047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551852144	chr7:110770151-110770152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192393506	chr7:110770175-110770176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534197238	chr7:110770184-110770185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554162488	chr7:110770231-110770232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567521689	chr7:110770235-110770236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573828422	chr7:110770237-110770238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182704405	chr7:110770271-110770272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556121101	chr7:110770410-110770411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546948256	chr7:110770433-110770434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544822602	chr7:110770439-110770440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571542705	chr7:110770441-110770442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558220171	chr7:110770458-110770459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375476318	chr7:110770510-110770511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368378360	chr7:110770513-110770514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75629796	chr7:110770568-110770569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540624364	chr7:110770668-110770669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139054561	chr7:110770683-110770684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187994180	chr7:110770696-110770697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535443357	chr7:110770708-110770709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543285547	chr7:110770818-110770819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143992941	chr7:110770847-110770848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
T-cell lymphomas	22341440	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:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110745600-110770000	Weak transcription	Brain Anterior Caudate	brain
2	chr7:110753000-110778000	Weak transcription	Ovary	ovary
3	chr7:110754800-110770800	Weak transcription	Fetal Brain Male	brain
4	chr7:110764200-110769600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:110764200-110769600	Weak transcription	Brain Germinal Matrix	brain
6	chr7:110764400-110769600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:110764800-110769200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:110764800-110773200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:110764800-110777800	Weak transcription	Primary T cells from cord blood	blood
10	chr7:110768800-110771000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:110769600-110769800	Enhancers	Brain Germinal Matrix	brain
12	chr7:110769600-110770200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:110769600-110770600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:110770000-110770200	Enhancers	Brain Anterior Caudate	brain
15	chr7:110770600-110773000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:110771400-110777800	Weak transcription	Aorta	Aorta
17	chr7:110772400-110773200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:110772400-110773200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:110772400-110773600	Enhancers	Hela-S3	cervix
20	chr7:110772800-110773400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:110772800-110773400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:110772800-110773400	Enhancers	HUVEC	blood vessel
23	chr7:110773000-110773400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr7:110773000-110773400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:110773000-110773400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:110773000-110773400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:110773000-110773800	Enhancers	A549	lung
28	chr7:110773200-110773600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:110773200-110773600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:110773200-110776600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:110773200-110777400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:110773400-110777600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:110773400-110777600	Weak transcription	HUVEC	blood vessel
34	chr7:110773400-110777800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:110773400-110778000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:110773400-110778000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:110773600-110776800	Weak transcription	Hela-S3	cervix
38	chr7:110773600-110778000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:110773800-110778000	Weak transcription	A549	lung
40	chr7:110776600-110779800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:110776800-110777800	Enhancers	Hela-S3	cervix
42	chr7:110776800-110780000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr7:110777000-110777800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:110777000-110778000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:110777000-110778400	Enhancers	Small Intestine	intestine
46	chr7:110777200-110779000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr7:110777400-110777600	Active TSS	GM12878-XiMat	blood
48	chr7:110777400-110778200	Enhancers	Dnd41	blood
49	chr7:110777400-110779200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:110777400-110780600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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