Variant report

Variant	esv1828513
Chromosome Location	chr7:109948107-110039995
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:109955062..109956846-chr7:109958867..109960788,2	MCF-7	breast:
2	chr7:109942801..109945378-chr7:109953861..109955984,2	MCF-7	breast:
3	chr7:110015673..110017196-chr7:110020533..110022537,2	MCF-7	breast:
4	chr7:110033400..110035534-chr7:110043486..110046161,2	MCF-7	breast:
5	chr7:110033714..110035485-chr7:110038259..110040324,2	K562	blood:
6	chr7:110035506..110036176-chr7:110061043..110061570,2	MCF-7	breast:
7	chr7:109966345..109968006-chr7:109969376..109971540,2	K562	blood:
8	chr7:109951621..109953842-chr7:109955354..109958262,2	K562	blood:
9	chr7:110010232..110012937-chr7:110013635..110015980,2	K562	blood:
10	chr7:110022490..110023034-chr7:110215311..110216187,2	MCF-7	breast:
11	chr7:109921534..109922083-chr7:110022993..110023504,2	MCF-7	breast:
12	chr7:109981703..109984403-chr7:109986705..109988683,2	K562	blood:
13	chr7:109951621..109953842-chr7:109955354..109958262,2	K562	blood:
14	chr7:109966345..109968006-chr7:109969376..109971540,2	K562	blood:
15	chr7:110033714..110035485-chr7:110038259..110040324,2	K562	blood:
16	chr7:109955062..109956846-chr7:109958867..109960788,2	MCF-7	breast:
17	chr7:109921191..109922083-chr7:110022949..110023504,3	MCF-7	breast:
18	chr7:109981703..109984403-chr7:109986705..109988683,2	K562	blood:
19	chr7:110015673..110017196-chr7:110020533..110022537,2	MCF-7	breast:
20	chr7:110010232..110012937-chr7:110013635..110015980,2	K562	blood:

No data

Extended variants
information (count: 2976 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2976 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145235798	chr7:109948604-109948605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs187177596	chr7:109948698-109948699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs75964566	chr7:109948712-109948713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs546281740	chr7:109948725-109948726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs558372733	chr7:109948728-109948729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs141644202	chr7:109948730-109948731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560153928	chr7:109948747-109948748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs192049122	chr7:109948779-109948780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs548737995	chr7:109948781-109948782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs57387284	chr7:109948783-109948784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs4401782	chr7:109948789-109948790	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146981485	chr7:109948846-109948847	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551025343	chr7:109948857-109948858	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs369648418	chr7:109948886-109948887	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs573528400	chr7:109948890-109948891	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs537380935	chr7:109948903-109948904	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs184196008	chr7:109948921-109948922	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111755023	chr7:109948932-109948933	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs138074901	chr7:109948984-109948985	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs143733947	chr7:109948985-109948986	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs113344446	chr7:109948999-109949000	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555503479	chr7:109949010-109949011	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575189311	chr7:109949051-109949052	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544099792	chr7:109949052-109949053	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146104222	chr7:109949086-109949087	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115000828	chr7:109949105-109949106	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555514670	chr7:109949118-109949119	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78686514	chr7:109949153-109949154	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560014609	chr7:109949179-109949180	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528950887	chr7:109949197-109949198	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542093932	chr7:109949239-109949240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs116358217	chr7:109949248-109949249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs148198464	chr7:109949347-109949348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs117789250	chr7:109949368-109949369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs141143712	chr7:109949448-109949449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs533364959	chr7:109949461-109949462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs573662127	chr7:109949485-109949486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs546944752	chr7:109949505-109949506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs372940439	chr7:109949511-109949512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs150751911	chr7:109949514-109949515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs80178496	chr7:109949516-109949517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs555300340	chr7:109949520-109949521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs560762223	chr7:109949524-109949525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs137979506	chr7:109949560-109949561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs537610696	chr7:109949599-109949600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs557633036	chr7:109949616-109949617	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577488152	chr7:109949672-109949673	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539833750	chr7:109949701-109949702	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188670317	chr7:109949708-109949709	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573685108	chr7:109949733-109949734	ZNF genes & repeats 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
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

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109948600-109950600	ZNF genes & repeats	Dnd41	blood
2	chr7:109948800-109949200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:109948800-109949200	ZNF genes & repeats	Aorta	Aorta
4	chr7:109949000-109949200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:109949600-109951000	Enhancers	NH-A	brain
6	chr7:109950200-109951000	Enhancers	NHLF	lung
7	chr7:109950400-109952200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:109951600-109952400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:109951800-109952000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:109956800-109959000	Enhancers	HUVEC	blood vessel
11	chr7:109957200-109957800	ZNF genes & repeats	Dnd41	blood
12	chr7:109957200-109958000	Enhancers	NHLF	lung
13	chr7:109957200-109958800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:109957200-109959600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:109957400-109958400	Enhancers	NH-A	brain
16	chr7:109957600-109958400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:109957600-109958600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:109957800-109958400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:109957800-109961000	Weak transcription	Dnd41	blood
20	chr7:109958000-109958400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:109958000-109958400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:109958000-109958400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:109958000-109958400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:109958000-109958400	Enhancers	HMEC	breast
25	chr7:109958000-109958600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:109958800-109959200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:109959200-109961600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:109961000-109961600	ZNF genes & repeats	Dnd41	blood
29	chr7:109961600-109963000	Weak transcription	Dnd41	blood
30	chr7:109963000-109963200	ZNF genes & repeats	Dnd41	blood
31	chr7:109976600-109978800	Enhancers	Fetal Lung	lung
32	chr7:109978200-109978800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr7:109978800-109980000	Weak transcription	Fetal Lung	lung
34	chr7:109980000-109980200	Enhancers	Fetal Lung	lung
35	chr7:109981400-110006200	Weak transcription	Dnd41	blood
36	chr7:109996000-109996400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:109996400-110007800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:110003800-110004200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:110006200-110006600	ZNF genes & repeats	Dnd41	blood
40	chr7:110006200-110006800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:110006600-110010000	Weak transcription	Dnd41	blood
42	chr7:110010000-110010400	ZNF genes & repeats	Dnd41	blood
43	chr7:110010400-110015800	Weak transcription	Dnd41	blood
44	chr7:110011400-110014400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:110011400-110015200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:110011800-110012000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:110011800-110012000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:110012200-110013600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:110013000-110013400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:110013000-110013800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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