Variant report

Variant	esv1803022
Chromosome Location	chr7:117970170-117998574
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:117992579..117993168-chr7:118815740..118816656,2	K562	blood:
2	chr7:117992682..117993833-chr7:118815599..118816513,3	MCF-7	breast:
3	chr7:117976765..117979228-chr7:117979342..117982033,2	MCF-7	breast:
4	chr7:117994177..117997153-chr7:117999997..118002476,2	K562	blood:
5	chr7:117976765..117979228-chr7:117979342..117982033,2	MCF-7	breast:
6	chr1:217680158..217680969-chr7:117992533..117993276,2	MCF-7	breast:
7	chr7:117992651..117993374-chr7:118815864..118816654,2	MCF-7	breast:
8	chr7:117990137..117992600-chr7:117994804..117996566,2	K562	blood:
9	chr7:117989526..117991618-chr7:118013013..118014775,2	K562	blood:
10	chr7:117990137..117992600-chr7:117994804..117996566,2	K562	blood:

No data

Extended variants
information (count: 822 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:822 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536456346	chr7:117970174-117970175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544580830	chr7:117970207-117970208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145306661	chr7:117970208-117970209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546297139	chr7:117970263-117970264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs41956	chr7:117970264-117970265	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs533451364	chr7:117970276-117970277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551655463	chr7:117970299-117970300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141353413	chr7:117970326-117970327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537232851	chr7:117970386-117970387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192057333	chr7:117970430-117970431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183999905	chr7:117970441-117970442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535076565	chr7:117970509-117970510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547220145	chr7:117970597-117970598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145161892	chr7:117970598-117970599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577967659	chr7:117970599-117970600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545359964	chr7:117970615-117970616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557275479	chr7:117970671-117970672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117788282	chr7:117970708-117970709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567030176	chr7:117970764-117970765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542863831	chr7:117970770-117970771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146891344	chr7:117970773-117970774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528186295	chr7:117970793-117970794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540279227	chr7:117970812-117970813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73485557	chr7:117970826-117970827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369038927	chr7:117970843-117970844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551692141	chr7:117970855-117970856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551161444	chr7:117970873-117970874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569994331	chr7:117970927-117970928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200092702	chr7:117970966-117970967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571298890	chr7:117970997-117970998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548854720	chr7:117971009-117971010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532827570	chr7:117971016-117971017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567799800	chr7:117971036-117971037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534852780	chr7:117971037-117971038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547058326	chr7:117971076-117971077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140227127	chr7:117971118-117971119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186261041	chr7:117971215-117971216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557363283	chr7:117971277-117971278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550540163	chr7:117971301-117971302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575626807	chr7:117971305-117971306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536512941	chr7:117971323-117971324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190631834	chr7:117971341-117971342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143461299	chr7:117971358-117971359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539994229	chr7:117971437-117971438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116356781	chr7:117971445-117971446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567267337	chr7:117971477-117971478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147987177	chr7:117971521-117971522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543828177	chr7:117971523-117971524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562102466	chr7:117971541-117971542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531112854	chr7:117971568-117971569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117964400-117986800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:117969000-117970200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:117969000-117970800	Enhancers	Dnd41	blood
4	chr7:117969200-117970200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:117969800-117970600	Enhancers	Hela-S3	cervix
6	chr7:117969800-117970800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:117970000-117970400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:117970000-117970800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:117970000-117971000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:117970200-117970600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:117970200-117970600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:117970200-117970800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:117970200-117970800	Enhancers	HMEC	breast
14	chr7:117970800-117975800	Weak transcription	Dnd41	blood
15	chr7:117975800-117977400	Enhancers	Dnd41	blood
16	chr7:117976200-117976800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:117984200-117984600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:117984600-117986200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:117986000-117987800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:117986200-117987200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:117986200-117987200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:117986200-117987800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:117986600-117987200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:117986800-117987000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:117987000-117987800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:117987200-117988000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:117987800-117993400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:117988000-117988200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:117988200-117990000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:117989400-117992000	Enhancers	Dnd41	blood
31	chr7:117992000-117993200	Weak transcription	Dnd41	blood
32	chr7:117993200-117993400	Enhancers	Dnd41	blood
33	chr7:117993400-117994200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:117994400-117994800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links