Variant report

Variant	esv3490169
Chromosome Location	chr7:110441904-110444481
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559415031	chr7:110441926-110441927	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs552292365	chr7:110441936-110441937	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs17400029	chr7:110441941-110441942	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs557131298	chr7:110442057-110442058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576831677	chr7:110442061-110442062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537885057	chr7:110442085-110442086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111282130	chr7:110442086-110442087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77735146	chr7:110442089-110442090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572913766	chr7:110442091-110442092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140217387	chr7:110442092-110442093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186229728	chr7:110442101-110442102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73716436	chr7:110442104-110442105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs200858740	chr7:110442286-110442287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145373462	chr7:110442293-110442294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148002583	chr7:110442298-110442299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2894578	chr7:110442333-110442334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs10566868	chr7:110442387-110442388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538783394	chr7:110442388-110442389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10281849	chr7:110442395-110442396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202205699	chr7:110442397-110442398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565727619	chr7:110442399-110442400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10545848	chr7:110442416-110442417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111596310	chr7:110442422-110442423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554985418	chr7:110442424-110442425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534743080	chr7:110442473-110442474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190524042	chr7:110442513-110442514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557914146	chr7:110442545-110442546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141063906	chr7:110442558-110442559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576188574	chr7:110442592-110442593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537369556	chr7:110442597-110442598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28680438	chr7:110442631-110442632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576998332	chr7:110442713-110442714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78816221	chr7:110442724-110442725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1528039	chr7:110442772-110442773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183445098	chr7:110442781-110442782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150243772	chr7:110442790-110442791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138858457	chr7:110442791-110442792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575239899	chr7:110442809-110442810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544066315	chr7:110442868-110442869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563745562	chr7:110442893-110442894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535736699	chr7:110442919-110442920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552392229	chr7:110442939-110442940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559465937	chr7:110442965-110442966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374069252	chr7:110443059-110443060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377630280	chr7:110443095-110443096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550703019	chr7:110443137-110443138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79206892	chr7:110443160-110443161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1358434	chr7:110443171-110443172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs143324864	chr7:110443232-110443233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550814820	chr7:110443241-110443242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110435400-110446000	Weak transcription	Aorta	Aorta
2	chr7:110438800-110444800	Weak transcription	Pancreas	Pancrea
3	chr7:110441600-110442000	Active TSS	GM12878-XiMat	blood
4	chr7:110443600-110443800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:110444000-110444400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:110444000-110444600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:110444200-110444600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:110444400-110444600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:110444400-110444600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:110444400-110444600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:110444400-110444600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:110444400-110444600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:110444400-110444600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:110444400-110444800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr7:110444400-110445000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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