Variant report

Variant	esv17913
Chromosome Location	chr7:70619910-70624629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 222 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17142542	chr7:70619951-70619952	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567498938	chr7:70619972-70619973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12665914	chr7:70620003-70620004	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539839559	chr7:70620009-70620010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571625613	chr7:70620078-70620079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76155107	chr7:70620084-70620085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139339210	chr7:70620113-70620114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554223854	chr7:70620136-70620137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73361724	chr7:70620145-70620146	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs143372790	chr7:70620162-70620163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183287379	chr7:70620186-70620187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117027787	chr7:70620189-70620190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186859625	chr7:70620215-70620216	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148351629	chr7:70620225-70620226	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532908750	chr7:70620227-70620228	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191367351	chr7:70620296-70620297	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571937587	chr7:70620329-70620330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112894644	chr7:70620330-70620331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112842866	chr7:70620353-70620354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141519158	chr7:70620381-70620382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567429793	chr7:70620434-70620435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182778929	chr7:70620457-70620458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370860152	chr7:70620478-70620479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548035666	chr7:70620506-70620507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567540967	chr7:70620551-70620552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1990109	chr7:70620554-70620555	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs115851740	chr7:70620559-70620560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76781345	chr7:70620561-70620562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74599580	chr7:70620562-70620563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80066015	chr7:70620564-70620565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150861782	chr7:70620575-70620576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139962939	chr7:70620626-70620627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536639256	chr7:70620656-70620657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555277254	chr7:70620680-70620681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187941901	chr7:70620707-70620708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192832506	chr7:70620726-70620727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74364570	chr7:70620727-70620728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368679109	chr7:70620740-70620741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577329615	chr7:70620760-70620761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544710447	chr7:70620827-70620828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73361726	chr7:70620862-70620863	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs371122553	chr7:70620917-70620918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571739616	chr7:70620921-70620922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542192097	chr7:70620930-70620931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143862191	chr7:70620937-70620938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539067202	chr7:70620980-70620981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374297548	chr7:70621015-70621016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550007208	chr7:70621037-70621038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564935013	chr7:70621054-70621055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185179799	chr7:70621081-70621082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	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
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70611600-70623800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:70611800-70620200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:70612000-70636400	Weak transcription	Ovary	ovary
4	chr7:70612200-70650600	Weak transcription	Fetal Lung	lung
5	chr7:70613400-70622600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:70613400-70624600	Weak transcription	Right Atrium	heart
7	chr7:70615000-70622400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:70615200-70632800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:70615400-70620600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:70616000-70632800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:70616200-70620200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:70616200-70621800	Weak transcription	Fetal Stomach	stomach
13	chr7:70617400-70620200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:70617600-70622600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:70617600-70624000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:70617600-70630600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:70619800-70641800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:70620200-70620400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:70620200-70621200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:70620200-70631000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:70620400-70639000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:70621200-70623000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:70622400-70623000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr7:70622600-70623000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr7:70622600-70623200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:70623000-70627600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:70623000-70630200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:70623000-70633000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:70623000-70639600	Weak transcription	Aorta	Aorta
30	chr7:70623200-70626400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:70624000-70624800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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