Variant report

Variant	esv3338119
Chromosome Location	chr7:122345116-122347464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:122347059-122347118	GM12878	blood:	n/a	n/a
2	TCF7L2	chr7:122347032-122347658	HEK293	kidney:	n/a	chr7:122347563-122347579 chr7:122347457-122347471 chr7:122347456-122347472 chr7:122347456-122347472 chr7:122347566-122347575 chr7:122347564-122347578 chr7:122347460-122347469 chr7:122347563-122347579
3	ZNF274	chr7:122345081-122345782	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNF148	TF binding region

Extended variants
information (count: 150 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34950493	chr7:122345254-122345255	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs185722809	chr7:122345293-122345294	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs79797270	chr7:122345299-122345300	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs531791310	chr7:122345300-122345301	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548933729	chr7:122345314-122345315	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs76707642	chr7:122345316-122345317	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs190618849	chr7:122345318-122345319	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs180973669	chr7:122345330-122345331	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs570465422	chr7:122345345-122345346	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs539488149	chr7:122345367-122345368	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs114384420	chr7:122345378-122345379	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs569857503	chr7:122345383-122345384	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs535253224	chr7:122345398-122345399	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs555280265	chr7:122345412-122345413	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs572004594	chr7:122345453-122345454	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs533933692	chr7:122345456-122345457	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs376557136	chr7:122345463-122345464	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs528485960	chr7:122345489-122345490	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs13308188	chr7:122345501-122345502	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs554094545	chr7:122345510-122345511	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs531266582	chr7:122345522-122345523	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs13308228	chr7:122345523-122345524	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs184396203	chr7:122345530-122345531	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs571416426	chr7:122345540-122345541	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs199648653	chr7:122345559-122345560	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs4727946	chr7:122345565-122345566	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs111282596	chr7:122345579-122345580	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs4727947	chr7:122345580-122345581	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs112139602	chr7:122345584-122345585	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs375281164	chr7:122345594-122345595	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs13307854	chr7:122345598-122345599	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs13308244	chr7:122345599-122345600	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs368343965	chr7:122345603-122345604	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs377206949	chr7:122345609-122345610	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs369179326	chr7:122345621-122345622	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs13308292	chr7:122345645-122345646	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs535125608	chr7:122345670-122345671	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs13308298	chr7:122345672-122345673	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs538179884	chr7:122345689-122345690	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs371441389	chr7:122345700-122345701	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs547433487	chr7:122345701-122345702	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs539998687	chr7:122345717-122345718	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs541938526	chr7:122345747-122345748	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs190535109	chr7:122345767-122345768	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs11313805	chr7:122345778-122345779	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs11313804	chr7:122345780-122345781	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs551345095	chr7:122345784-122345785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370125415	chr7:122345797-122345798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376136201	chr7:122345799-122345800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368434379	chr7:122345814-122345815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122330000-122347000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr7:122333000-122350400	Weak transcription	Gastric	stomach
3	chr7:122336400-122347600	Weak transcription	Fetal Lung	lung
4	chr7:122336600-122347000	Weak transcription	HepG2	liver
5	chr7:122336600-122359000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:122342600-122347000	Weak transcription	Left Ventricle	heart
7	chr7:122342600-122347000	Weak transcription	Pancreas	Pancrea
8	chr7:122347000-122347200	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:122347000-122347400	Enhancers	Left Ventricle	heart
10	chr7:122347000-122347400	Enhancers	Pancreas	Pancrea
11	chr7:122347000-122347400	Enhancers	HepG2	liver
12	chr7:122347400-122348800	Weak transcription	HepG2	liver

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