Variant report

Variant	esv33523
Chromosome Location	chr7:66855435-66958898
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	chr7:66857902..66861234-chr7:66864878..66868630,3	MCF-7	breast:
2	chr7:66948821..66951872-chr7:66953059..66955223,3	MCF-7	breast:
3	chr7:66843189..66843805-chr7:66948880..66949474,3	MCF-7	breast:
4	chr7:66856859..66858400-chr7:66949972..66951683,2	MCF-7	breast:
5	chr7:66857902..66861234-chr7:66864878..66868630,3	MCF-7	breast:
6	chr7:66948821..66951872-chr7:66953059..66955223,3	MCF-7	breast:
7	chr7:66856859..66858400-chr7:66949972..66951683,2	MCF-7	breast:
8	chr7:66870283..66873220-chr7:66875254..66877293,2	K562	blood:
9	chr7:66870283..66873220-chr7:66875254..66877293,2	K562	blood:
10	chr7:66949124..66949673-chr7:68868150..68868808,2	MCF-7	breast:

No data

Extended variants
information (count: 3437 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:3437 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386714141	chr7:66855482-66855483	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs6944277	chr7:66855484-66855485	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552381766	chr7:66855497-66855498	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs549052025	chr7:66855499-66855500	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs569369487	chr7:66855500-66855501	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs370090763	chr7:66855509-66855510	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs531577552	chr7:66855578-66855579	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs548617643	chr7:66855590-66855591	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs568729992	chr7:66855644-66855645	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs534498874	chr7:66855667-66855668	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs548153244	chr7:66855674-66855675	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs568983437	chr7:66855675-66855676	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs113643109	chr7:66855759-66855760	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs149145850	chr7:66855774-66855775	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs555961939	chr7:66855783-66855784	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs145531255	chr7:66855791-66855792	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs558352085	chr7:66855828-66855829	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs111928348	chr7:66855829-66855830	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs34457538	chr7:66855844-66855845	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs112811403	chr7:66855865-66855866	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs4718552	chr7:66855914-66855915	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571963564	chr7:66855917-66855918	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs17145225	chr7:66855925-66855926	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs114010216	chr7:66855932-66855933	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs542617279	chr7:66855937-66855938	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs556199619	chr7:66855940-66855941	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs17145227	chr7:66855952-66855953	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562805946	chr7:66855971-66855972	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs531840098	chr7:66856026-66856027	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80062911	chr7:66856052-66856053	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562060953	chr7:66856067-66856068	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527727410	chr7:66856073-66856074	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144781859	chr7:66856084-66856085	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6945404	chr7:66856163-66856164	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73137799	chr7:66856164-66856165	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs533064550	chr7:66856172-66856173	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550365924	chr7:66856248-66856249	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs17145232	chr7:66856251-66856252	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs577262780	chr7:66856256-66856257	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs555092290	chr7:66856261-66856262	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs80104064	chr7:66856287-66856288	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs373119686	chr7:66856288-66856289	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs534352689	chr7:66856315-66856316	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs557748219	chr7:66856326-66856327	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs540565237	chr7:66856338-66856339	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs75775815	chr7:66856345-66856346	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs543210600	chr7:66856346-66856347	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs528853319	chr7:66856357-66856358	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs188851247	chr7:66856372-66856373	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs375474767	chr7:66856374-66856375	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	20668451	CNVD
Prostate cancer	20601956	CNVD
Nasopharyngeal cancer	22815911	CNVD
Prostate cancer	21248069	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Prostate cancer	17297502	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66853800-66857400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:66855000-66855800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:66855000-66858200	Enhancers	Fetal Brain Male	brain
4	chr7:66855400-66856200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr7:66855400-66857800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:66855800-66856200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:66856000-66856200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:66856000-66856400	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr7:66856000-66856400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
10	chr7:66856200-66856400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:66856200-66856400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:66856400-66857800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:66856400-66858000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:66857000-66857200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:66857400-66857800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:66857600-66857800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:66857800-66858200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
18	chr7:66857800-66858200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr7:66857800-66858200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:66857800-66858200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr7:66857800-66858400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr7:66857800-66858400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr7:66857800-66858600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr7:66857800-66859600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:66858000-66858600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:66858000-66858800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:66858200-66858400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:66858200-66858600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:66858200-66858800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr7:66858200-66859400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr7:66858400-66858800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
32	chr7:66858400-66859200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr7:66858400-66859200	Enhancers	Colon Smooth Muscle	Colon
34	chr7:66858400-66859200	Enhancers	Fetal Stomach	stomach
35	chr7:66858600-66858800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:66858600-66858800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:66858800-66859600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:66858800-66862800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:66859600-66859800	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
40	chr7:66859800-66864600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:66862200-66862400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:66862400-66863200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:66866600-66867000	Enhancers	K562	blood
44	chr7:66867000-66867400	Weak transcription	K562	blood
45	chr7:66867400-66868200	Enhancers	K562	blood
46	chr7:66868800-66869000	Enhancers	Colon Smooth Muscle	Colon
47	chr7:66869000-66869600	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:66869600-66870400	Enhancers	Colon Smooth Muscle	Colon
49	chr7:66870400-66870800	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:66870800-66873200	Enhancers	Colon Smooth Muscle	Colon

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