Variant report

Variant	esv1810114
Chromosome Location	chr7:66621964-66636410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 607 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:607 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2844170	chr7:66621964-66621965	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541972805	chr7:66622008-66622009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116775982	chr7:66622009-66622010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527340399	chr7:66622098-66622099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11771226	chr7:66622134-66622135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
6	rs11771227	chr7:66622148-66622149	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs184085042	chr7:66622159-66622160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547286832	chr7:66622181-66622182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138666061	chr7:66622211-66622212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188814665	chr7:66622254-66622255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181494694	chr7:66622256-66622257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554913801	chr7:66622260-66622261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10274305	chr7:66622266-66622267	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs13239383	chr7:66622304-66622305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9692192	chr7:66622305-66622306	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs554114282	chr7:66622336-66622337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13239488	chr7:66622364-66622365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577504090	chr7:66622377-66622378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186179695	chr7:66622397-66622398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13239500	chr7:66622398-66622399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575672517	chr7:66622405-66622406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9690839	chr7:66622406-66622407	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs13230064	chr7:66622429-66622430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561679466	chr7:66622436-66622437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527442861	chr7:66622445-66622446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191823260	chr7:66622468-66622469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9690291	chr7:66622473-66622474	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs182354321	chr7:66622484-66622485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13227223	chr7:66622504-66622505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187407210	chr7:66622538-66622539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13230257	chr7:66622539-66622540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190938466	chr7:66622548-66622549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10233967	chr7:66622552-66622553	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs575206749	chr7:66622562-66622563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141536335	chr7:66622563-66622564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386714122	chr7:66622569-66622570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112359334	chr7:66622570-66622571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10274725	chr7:66622571-66622572	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs13239712	chr7:66622576-66622577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554223427	chr7:66622619-66622620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571083046	chr7:66622717-66622718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182306220	chr7:66622755-66622756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7349982	chr7:66622758-66622759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs559766996	chr7:66622765-66622766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373262075	chr7:66622771-66622772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576812411	chr7:66622839-66622840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542506878	chr7:66622842-66622843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56319050	chr7:66622877-66622878	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554922695	chr7:66622946-66622947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547544191	chr7:66622964-66622965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66533800-66623200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:66550000-66624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:66584400-66624400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:66585000-66622400	Weak transcription	HSMM	muscle
5	chr7:66585000-66623600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:66585200-66627200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:66591600-66626400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:66594000-66622000	Weak transcription	Pancreas	Pancrea
9	chr7:66594200-66623800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:66594800-66623000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:66594800-66626800	Weak transcription	Dnd41	blood
12	chr7:66595000-66627400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:66600400-66623400	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:66600800-66625000	Weak transcription	Left Ventricle	heart
15	chr7:66603200-66626600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:66604600-66624000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:66608800-66628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:66608800-66632600	Weak transcription	Ovary	ovary
19	chr7:66609800-66624400	Weak transcription	Liver	Liver
20	chr7:66612400-66627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:66613200-66626400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:66614200-66628000	Weak transcription	K562	blood
23	chr7:66616000-66626800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:66616400-66622400	Weak transcription	Brain Angular Gyrus	brain
25	chr7:66617200-66628200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:66617200-66628400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr7:66617400-66627400	Weak transcription	Primary T cells from cord blood	blood
28	chr7:66618000-66623200	Weak transcription	Lung	lung
29	chr7:66619400-66627600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:66619600-66626800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:66619600-66628000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr7:66619800-66623000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:66620000-66622400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:66620200-66622600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr7:66620200-66623400	Strong transcription	Fetal Intestine Small	intestine
36	chr7:66620400-66622400	Weak transcription	Aorta	Aorta
37	chr7:66620600-66622600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:66620600-66622800	Weak transcription	Primary B cells from cord blood	blood
39	chr7:66620600-66623200	Weak transcription	Gastric	stomach
40	chr7:66620600-66631000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:66620800-66628400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:66621000-66622400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:66621000-66628200	Weak transcription	Thymus	Thymus
44	chr7:66621200-66622800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:66621400-66628200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:66621400-66631400	Weak transcription	Adipose Nuclei	Adipose
47	chr7:66621600-66623000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:66621600-66625000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:66621600-66628400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:66621600-66672000	Weak transcription	Fetal Intestine Large	intestine

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