Variant report

Variant	nsv1028823
Chromosome Location	chr7:109908148-109988231
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:109951621..109953842-chr7:109955354..109958262,2	K562	blood:
2	chr2:166331840..166334109-chr7:109942311..109945123,2	MCF-7	breast:
3	chr7:109955062..109956846-chr7:109958867..109960788,2	MCF-7	breast:
4	chr7:109860312..109862571-chr7:109908993..109910664,2	K562	blood:
5	chr7:109921534..109922083-chr7:110022993..110023504,2	MCF-7	breast:
6	chr7:109966345..109968006-chr7:109969376..109971540,2	K562	blood:
7	chr7:109981703..109984403-chr7:109986705..109988683,2	K562	blood:
8	chr7:109966345..109968006-chr7:109969376..109971540,2	K562	blood:
9	chr7:109912170..109914601-chr7:109915373..109917923,3	MCF-7	breast:
10	chr7:109951621..109953842-chr7:109955354..109958262,2	K562	blood:
11	chr7:109912170..109914601-chr7:109915373..109917923,3	MCF-7	breast:
12	chr7:109921191..109922083-chr7:110022949..110023504,3	MCF-7	breast:
13	chr7:109981703..109984403-chr7:109986705..109988683,2	K562	blood:
14	chr7:109942801..109945378-chr7:109953861..109955984,2	MCF-7	breast:
15	chr7:109955062..109956846-chr7:109958867..109960788,2	MCF-7	breast:
16	chr7:109942801..109945378-chr7:109953861..109955984,2	MCF-7	breast:

No data

Extended variants
information (count: 2099 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2099 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148040104	chr7:109910012-109910013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs187763735	chr7:109910020-109910021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs559640321	chr7:109910092-109910093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs371169122	chr7:109910101-109910102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs115665402	chr7:109910111-109910112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs7779508	chr7:109910153-109910154	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs574574331	chr7:109910221-109910222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs543474956	chr7:109910238-109910239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs377104493	chr7:109910308-109910309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs6949438	chr7:109910373-109910374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs111428506	chr7:109910472-109910473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545234401	chr7:109910494-109910495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192449819	chr7:109910502-109910503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563422077	chr7:109910528-109910529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559588768	chr7:109910538-109910539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553503958	chr7:109910548-109910549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143595666	chr7:109910559-109910560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548192936	chr7:109910582-109910583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184799197	chr7:109910595-109910596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539253310	chr7:109910606-109910607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544585378	chr7:109910623-109910624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115161574	chr7:109910633-109910634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13224789	chr7:109910636-109910637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570165271	chr7:109910672-109910673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575030471	chr7:109910715-109910716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552639269	chr7:109910721-109910722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561296693	chr7:109910753-109910754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528479915	chr7:109910780-109910781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146238505	chr7:109910781-109910782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542430162	chr7:109910826-109910827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574466221	chr7:109910836-109910837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537153375	chr7:109910924-109910925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556996963	chr7:109910950-109910951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138908682	chr7:109910981-109910982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367656324	chr7:109911042-109911043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189770711	chr7:109911063-109911064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75599175	chr7:109911072-109911073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192042667	chr7:109911077-109911078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113443314	chr7:109911126-109911127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561668865	chr7:109911134-109911135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377301537	chr7:109911139-109911140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184198001	chr7:109911162-109911163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546889052	chr7:109911207-109911208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564203214	chr7:109911232-109911233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532621038	chr7:109911263-109911264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552719877	chr7:109911274-109911275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188949311	chr7:109911296-109911297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549911572	chr7:109911306-109911307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12671447	chr7:109911336-109911337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs568124823	chr7:109911337-109911338	Enhancers	n/a	n/a	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
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

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109910000-109910400	ZNF genes & repeats	Dnd41	blood
2	chr7:109910400-109911200	Weak transcription	Dnd41	blood
3	chr7:109911200-109911600	Enhancers	Dnd41	blood
4	chr7:109911600-109930600	Weak transcription	Dnd41	blood
5	chr7:109920800-109922000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:109921400-109922000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:109921400-109922400	Enhancers	Fetal Intestine Small	intestine
8	chr7:109921600-109921800	Enhancers	A549	lung
9	chr7:109921600-109922400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:109921600-109923200	Enhancers	Fetal Intestine Large	intestine
11	chr7:109921800-109922400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:109921800-109922600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:109921800-109923200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:109922000-109922400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:109922000-109923200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:109922000-109923400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:109922400-109924000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:109922600-109923200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:109923000-109923600	Enhancers	Stomach Mucosa	stomach
20	chr7:109923200-109923400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:109924000-109925600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:109925600-109926000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:109926000-109928000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:109928000-109928400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:109934000-109934200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:109934200-109934800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:109934800-109935000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:109934800-109936400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:109935000-109939000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:109936400-109936800	Enhancers	HUVEC	blood vessel
31	chr7:109936400-109937000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:109939600-109939800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:109939800-109940800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:109940800-109941000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:109941000-109941200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:109941400-109942600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:109942600-109944600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:109943400-109943800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:109943400-109944400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr7:109943400-109944400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:109944000-109944600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr7:109948600-109950600	ZNF genes & repeats	Dnd41	blood
43	chr7:109948800-109949200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:109948800-109949200	ZNF genes & repeats	Aorta	Aorta
45	chr7:109949000-109949200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:109949600-109951000	Enhancers	NH-A	brain
47	chr7:109950200-109951000	Enhancers	NHLF	lung
48	chr7:109950400-109952200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:109951600-109952400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:109951800-109952000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links