Variant report

Variant	esv3396991
Chromosome Location	chr7:66643642-66646140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557121696	chr7:66643674-66643675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182116826	chr7:66643694-66643695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543285539	chr7:66643719-66643720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559769831	chr7:66643771-66643772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572814552	chr7:66643837-66643838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551821869	chr7:66643875-66643876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76301032	chr7:66643901-66643902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186745166	chr7:66643915-66643916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544641458	chr7:66643927-66643928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564975882	chr7:66643971-66643972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112688720	chr7:66643975-66643976	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs550835571	chr7:66644013-66644014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113129338	chr7:66644026-66644027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs139606896	chr7:66644035-66644036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
15	rs143423073	chr7:66644039-66644040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs566608476	chr7:66644070-66644071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535020568	chr7:66644139-66644140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191597505	chr7:66644153-66644154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571444720	chr7:66644191-66644192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537130800	chr7:66644220-66644221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557162628	chr7:66644282-66644283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574200607	chr7:66644345-66644346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536413965	chr7:66644352-66644353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553641432	chr7:66644449-66644450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113186667	chr7:66644503-66644504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2687040	chr7:66644520-66644521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184089288	chr7:66644527-66644528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545036093	chr7:66644543-66644544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112530880	chr7:66644568-66644569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564865130	chr7:66644616-66644617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375645042	chr7:66644651-66644652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146944549	chr7:66644660-66644661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199665018	chr7:66644667-66644668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189992138	chr7:66644760-66644761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144437425	chr7:66644780-66644781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72457469	chr7:66644781-66644782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374978210	chr7:66644802-66644803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560930212	chr7:66644829-66644830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367912650	chr7:66644834-66644835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374349592	chr7:66644840-66644841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199997814	chr7:66644850-66644851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200362190	chr7:66644852-66644853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373906063	chr7:66644854-66644855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371688095	chr7:66644899-66644900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112868217	chr7:66644917-66644918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370435299	chr7:66644957-66644958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560440871	chr7:66645168-66645169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368594966	chr7:66645195-66645196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551393539	chr7:66645201-66645202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111623745	chr7:66645213-66645214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66621600-66672000	Weak transcription	Fetal Intestine Large	intestine
2	chr7:66628600-66684600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:66629000-66650200	Weak transcription	Fetal Thymus	thymus
4	chr7:66640600-66677200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:66641800-66654000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:66643000-66660000	Weak transcription	Dnd41	blood
7	chr7:66643200-66644400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:66643200-66654200	Weak transcription	Pancreas	Pancrea
9	chr7:66643400-66644400	Weak transcription	Fetal Lung	lung
10	chr7:66644000-66644600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:66644000-66644600	Enhancers	K562	blood
12	chr7:66644000-66644800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:66644200-66644400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:66644200-66644400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:66644200-66644600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:66644200-66644600	Enhancers	Fetal Muscle Leg	muscle
17	chr7:66644200-66644600	Enhancers	HMEC	breast
18	chr7:66644400-66644600	Enhancers	Fetal Intestine Small	intestine
19	chr7:66644400-66645000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:66644400-66645200	Enhancers	Fetal Lung	lung
21	chr7:66644400-66659400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:66644400-66683000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:66644600-66645600	Weak transcription	K562	blood
24	chr7:66644600-66647600	Weak transcription	HMEC	breast
25	chr7:66644600-66654400	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:66644600-66659400	Weak transcription	Fetal Intestine Small	intestine
27	chr7:66644800-66654000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:66644800-66660200	Weak transcription	Adipose Nuclei	Adipose
29	chr7:66645000-66657600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:66645000-66660000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:66645200-66647400	Weak transcription	Fetal Lung	lung
32	chr7:66645800-66655600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr7:66645800-66660000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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