Variant report

Variant	esv3452098
Chromosome Location	chr7:47997677-48001225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556191818	chr7:47997681-47997682	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs150844699	chr7:47997702-47997703	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs574012884	chr7:47997739-47997740	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs139634910	chr7:47997793-47997794	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs191823662	chr7:47997826-47997827	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs144184066	chr7:47997883-47997884	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545405309	chr7:47997910-47997911	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs577995469	chr7:47997960-47997961	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs565110899	chr7:47997963-47997964	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs527820801	chr7:47997989-47997990	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs547901468	chr7:47997992-47997993	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs375723746	chr7:47998015-47998016	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561509805	chr7:47998021-47998022	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530318168	chr7:47998121-47998122	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545273205	chr7:47998138-47998139	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76001906	chr7:47998167-47998168	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527991627	chr7:47998233-47998234	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538937015	chr7:47998236-47998237	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551386699	chr7:47998244-47998245	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571142782	chr7:47998245-47998246	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533931389	chr7:47998256-47998257	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563589998	chr7:47998277-47998278	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371180342	chr7:47998332-47998333	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138858002	chr7:47998378-47998379	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547188234	chr7:47998393-47998394	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370367349	chr7:47998399-47998400	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553448219	chr7:47998425-47998426	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs573354363	chr7:47998467-47998468	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs536052765	chr7:47998471-47998472	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs35245832	chr7:47998472-47998473	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs576312602	chr7:47998532-47998533	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs544958362	chr7:47998539-47998540	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs565321610	chr7:47998591-47998592	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs376396879	chr7:47998610-47998611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572346009	chr7:47998655-47998656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541387666	chr7:47998706-47998707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370663045	chr7:47998813-47998814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201067010	chr7:47998835-47998836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202161186	chr7:47998992-47998993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200518461	chr7:47999032-47999033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181342070	chr7:47999066-47999067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561374749	chr7:47999264-47999265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530181005	chr7:47999276-47999277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111446426	chr7:47999300-47999301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372771249	chr7:47999315-47999316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111602448	chr7:47999328-47999329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367758147	chr7:47999345-47999346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563710831	chr7:47999359-47999360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559996795	chr7:47999507-47999508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532876524	chr7:47999537-47999538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
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
Basal cell lymphoma	17170743	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
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47934000-48001800	Weak transcription	Psoas Muscle	Psoas
2	chr7:47977400-48000600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:47982000-47999400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:47983600-48001000	Weak transcription	NHLF	lung
5	chr7:47985000-48001400	Weak transcription	Hela-S3	cervix
6	chr7:47985600-48000600	Weak transcription	Ovary	ovary
7	chr7:47986400-48003800	Weak transcription	Fetal Brain Male	brain
8	chr7:47986800-48001800	Weak transcription	NHEK	skin
9	chr7:47990000-48000600	Weak transcription	Brain Angular Gyrus	brain
10	chr7:47990600-48000600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:47991000-48001400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:47991400-48001000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:47991400-48003600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:47991400-48004800	Weak transcription	Fetal Kidney	kidney
15	chr7:47991600-48000600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:47991600-48000600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:47992000-48000400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:47992000-48000600	Weak transcription	Brain Germinal Matrix	brain
19	chr7:47992000-48001600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:47992000-48001600	Weak transcription	Pancreas	Pancrea
21	chr7:47992000-48002400	Weak transcription	HepG2	liver
22	chr7:47992000-48004400	Weak transcription	Stomach Mucosa	stomach
23	chr7:47992200-48005200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:47992400-48000200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:47992400-48000400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:47992400-48000600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:47992600-48000400	Weak transcription	Fetal Brain Female	brain
28	chr7:47992800-48000600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:47993200-47998000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr7:47993200-47998400	Strong transcription	Primary T cells from cord blood	blood
31	chr7:47993200-48000600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr7:47993600-47998200	Strong transcription	Adipose Nuclei	Adipose
33	chr7:47993800-47998000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:47993800-47998000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:47993800-47998200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:47994000-47998200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr7:47994000-47998400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:47994000-48000400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:47994400-47998200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:47994400-48000800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:47994400-48002000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:47994600-48000600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:47994600-48000800	Weak transcription	HUVEC	blood vessel
44	chr7:47994800-47998000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:47994800-48000400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr7:47994800-48000400	Weak transcription	NH-A	brain
47	chr7:47994800-48000600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:47994800-48000600	Weak transcription	Brain Anterior Caudate	brain
49	chr7:47994800-48000600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr7:47994800-48000800	Weak transcription	Rectal Smooth Muscle	rectum

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