Variant report

Variant	esv2640140
Chromosome Location	chr7:57943268-57948120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 585 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:585 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201816360	chr7:57943279-57943280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs555852709	chr7:57943280-57943281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs372708691	chr7:57943298-57943299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs574164099	chr7:57943347-57943348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs190535930	chr7:57943364-57943365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs371544046	chr7:57943373-57943374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs374956947	chr7:57943374-57943375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs369405527	chr7:57943381-57943382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs541500593	chr7:57943383-57943384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs372047753	chr7:57943396-57943397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs375845510	chr7:57943397-57943398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs1586154	chr7:57943398-57943399	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs370169043	chr7:57943399-57943400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372560494	chr7:57943403-57943404	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs376892330	chr7:57943407-57943408	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571938484	chr7:57943408-57943409	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs368873534	chr7:57943411-57943412	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs373480991	chr7:57943424-57943425	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs377566589	chr7:57943428-57943429	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs201027166	chr7:57943437-57943438	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs139735815	chr7:57943440-57943441	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs375313142	chr7:57943442-57943443	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs564181772	chr7:57943450-57943451	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs376927570	chr7:57943473-57943474	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs531546078	chr7:57943482-57943483	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376161118	chr7:57943495-57943496	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs371407600	chr7:57943498-57943499	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374672264	chr7:57943499-57943500	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs199610786	chr7:57943515-57943516	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs549967903	chr7:57943517-57943518	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs547157476	chr7:57943518-57943519	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530247727	chr7:57943527-57943528	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs112781206	chr7:57943535-57943536	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs201767915	chr7:57943541-57943542	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs567248578	chr7:57943553-57943554	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs566904153	chr7:57943558-57943559	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs533892493	chr7:57943579-57943580	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs199548656	chr7:57943580-57943581	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs571021690	chr7:57943584-57943585	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs150426922	chr7:57943609-57943610	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs142171056	chr7:57943618-57943619	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs139477037	chr7:57943623-57943624	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs538452067	chr7:57943629-57943630	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs536501913	chr7:57943635-57943636	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs180830068	chr7:57943651-57943652	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs200775929	chr7:57943660-57943661	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs201576046	chr7:57943668-57943669	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs62459419	chr7:57943674-57943675	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113576998	chr7:57943675-57943676	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs556294969	chr7:57943679-57943680	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Wilms tumour	21544195	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57939200-57947200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:57940400-57947800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr7:57940800-57954400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr7:57941200-57951200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr7:57943400-57943800	Active TSS	Fetal Heart	heart
6	chr7:57944200-57944800	ZNF genes & repeats	Liver	Liver
7	chr7:57944800-57945000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:57945200-57946000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:57945200-58001800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr7:57946800-57947000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr7:57946800-57947200	Active TSS	Stomach Mucosa	stomach
12	chr7:57947200-57957800	Weak transcription	Stomach Mucosa	stomach

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