Variant report

Variant	nsv1024052
Chromosome Location	chr7:109935167-110126445
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:32)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:109643549..109644198-chr7:110082097..110083094,2	MCF-7	breast:
2	chr7:109729852..109730963-chr7:110082075..110082714,4	MCF-7	breast:
3	chr7:109951621..109953842-chr7:109955354..109958262,2	K562	blood:
4	chr7:109730201..109731073-chr7:110082423..110082955,4	MCF-7	breast:
5	chr7:109951621..109953842-chr7:109955354..109958262,2	K562	blood:
6	chr7:109966345..109968006-chr7:109969376..109971540,2	K562	blood:
7	chr7:109955062..109956846-chr7:109958867..109960788,2	MCF-7	breast:
8	chr2:166331840..166334109-chr7:109942311..109945123,2	MCF-7	breast:
9	chr7:110056894..110059065-chr7:110060320..110063079,2	K562	blood:
10	chr7:110033400..110035534-chr7:110043486..110046161,2	MCF-7	breast:
11	chr7:109942801..109945378-chr7:109953861..109955984,2	MCF-7	breast:
12	chr7:110015673..110017196-chr7:110020533..110022537,2	MCF-7	breast:
13	chr7:109921534..109922083-chr7:110022993..110023504,2	MCF-7	breast:
14	chr7:110035506..110036176-chr7:110061043..110061570,2	MCF-7	breast:
15	chr7:110056894..110059065-chr7:110060320..110063079,2	K562	blood:
16	chr7:110015673..110017196-chr7:110020533..110022537,2	MCF-7	breast:
17	chr7:109981703..109984403-chr7:109986705..109988683,2	K562	blood:
18	chr7:109966345..109968006-chr7:109969376..109971540,2	K562	blood:
19	chr7:110022490..110023034-chr7:110215311..110216187,2	MCF-7	breast:
20	chr7:109484123..109484950-chr7:110082483..110082993,2	MCF-7	breast:
21	chr7:110035506..110036176-chr7:110061043..110061570,2	MCF-7	breast:
22	chr7:109942801..109945378-chr7:109953861..109955984,2	MCF-7	breast:
23	chr7:110064481..110066360-chr7:110081485..110083275,2	K562	blood:
24	chr7:110033714..110035485-chr7:110038259..110040324,2	K562	blood:
25	chr7:110010232..110012937-chr7:110013635..110015980,2	K562	blood:
26	chr7:109921191..109922083-chr7:110022949..110023504,3	MCF-7	breast:
27	chr7:109955062..109956846-chr7:109958867..109960788,2	MCF-7	breast:
28	chr7:110064481..110066360-chr7:110081485..110083275,2	K562	blood:
29	chr7:110033400..110035534-chr7:110043486..110046161,2	MCF-7	breast:
30	chr7:110010232..110012937-chr7:110013635..110015980,2	K562	blood:
31	chr7:109981703..109984403-chr7:109986705..109988683,2	K562	blood:
32	chr7:110033714..110035485-chr7:110038259..110040324,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IMMP2L-1	chr7:110072868-110072963	XLOC_006561
2	lnc-IMMP2L-1	chr7:110072868-110072963	XLOC_006561
3	lnc-IMMP2L-1	chr7:110072296-110072367	XLOC_006561

No data

Variant related genes	Relation type
RICTOR	miRNA target sites
RSPO1	miRNA target sites

Extended variants
information (count: 5282 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:5282 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10278184	chr7:109935167-109935168	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538898975	chr7:109935211-109935212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144748572	chr7:109935273-109935274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376696928	chr7:109935278-109935279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76215142	chr7:109935288-109935289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575698702	chr7:109935303-109935304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535010948	chr7:109935351-109935352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181313360	chr7:109935396-109935397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148533581	chr7:109935417-109935418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563061766	chr7:109935422-109935423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186778549	chr7:109935464-109935465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537053232	chr7:109935474-109935475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141791938	chr7:109935513-109935514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375204078	chr7:109935546-109935547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573277823	chr7:109935593-109935594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191682927	chr7:109935602-109935603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146246433	chr7:109935618-109935619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548878619	chr7:109935642-109935643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572575584	chr7:109935669-109935670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541369589	chr7:109935710-109935711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561258408	chr7:109935766-109935767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574747592	chr7:109935792-109935793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543436086	chr7:109935824-109935825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563667225	chr7:109935878-109935879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182256030	chr7:109935884-109935885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552619869	chr7:109935914-109935915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187361058	chr7:109935935-109935936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189635788	chr7:109935942-109935943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548364534	chr7:109935956-109935957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374324658	chr7:109935964-109935965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367992275	chr7:109935974-109935975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374716410	chr7:109935979-109935980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182364836	chr7:109935999-109936000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186982787	chr7:109936010-109936011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189913602	chr7:109936011-109936012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114960851	chr7:109936023-109936024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139258878	chr7:109936052-109936053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115966082	chr7:109936084-109936085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370437876	chr7:109936172-109936173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572589388	chr7:109936226-109936227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372779817	chr7:109936229-109936230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144162945	chr7:109936237-109936238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183081544	chr7:109936247-109936248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188517737	chr7:109936262-109936263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547738915	chr7:109936266-109936267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543693446	chr7:109936315-109936316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563561938	chr7:109936325-109936326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540506929	chr7:109936330-109936331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565211864	chr7:109936345-109936346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546021391	chr7:109936352-109936353	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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109934800-109936400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:109935000-109939000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:109936400-109936800	Enhancers	HUVEC	blood vessel
4	chr7:109936400-109937000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:109939600-109939800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:109939800-109940800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:109940800-109941000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:109941000-109941200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:109941400-109942600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:109942600-109944600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:109943400-109943800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:109943400-109944400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:109943400-109944400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:109944000-109944600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:109948600-109950600	ZNF genes & repeats	Dnd41	blood
16	chr7:109948800-109949200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:109948800-109949200	ZNF genes & repeats	Aorta	Aorta
18	chr7:109949000-109949200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:109949600-109951000	Enhancers	NH-A	brain
20	chr7:109950200-109951000	Enhancers	NHLF	lung
21	chr7:109950400-109952200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:109951600-109952400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:109951800-109952000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:109956800-109959000	Enhancers	HUVEC	blood vessel
25	chr7:109957200-109957800	ZNF genes & repeats	Dnd41	blood
26	chr7:109957200-109958000	Enhancers	NHLF	lung
27	chr7:109957200-109958800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:109957200-109959600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:109957400-109958400	Enhancers	NH-A	brain
30	chr7:109957600-109958400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:109957600-109958600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:109957800-109958400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:109957800-109961000	Weak transcription	Dnd41	blood
34	chr7:109958000-109958400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:109958000-109958400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:109958000-109958400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:109958000-109958400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:109958000-109958400	Enhancers	HMEC	breast
39	chr7:109958000-109958600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:109958800-109959200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:109959200-109961600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:109961000-109961600	ZNF genes & repeats	Dnd41	blood
43	chr7:109961600-109963000	Weak transcription	Dnd41	blood
44	chr7:109963000-109963200	ZNF genes & repeats	Dnd41	blood
45	chr7:109976600-109978800	Enhancers	Fetal Lung	lung
46	chr7:109978200-109978800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:109978800-109980000	Weak transcription	Fetal Lung	lung
48	chr7:109980000-109980200	Enhancers	Fetal Lung	lung
49	chr7:109981400-110006200	Weak transcription	Dnd41	blood
50	chr7:109996000-109996400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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