Variant report

Variant	esv16629
Chromosome Location	chr7:126531997-126552956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:126537894-126544517..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
2	7:126085913-126088095..7:126537894-126544517	GM12878	blood:
3	chr7:126443207..126444075-chr7:126540061..126540769,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179603	chromatin interactions

Extended variants
information (count: 411 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563748932	chr7:126536636-126536637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187022241	chr7:126536742-126536743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142669012	chr7:126536744-126536745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189017776	chr7:126536790-126536791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550870385	chr7:126536793-126536794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181409431	chr7:126536819-126536820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547133944	chr7:126536853-126536854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201739754	chr7:126536863-126536864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372176780	chr7:126536864-126536865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185797586	chr7:126536900-126536901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562124459	chr7:126536991-126536992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190204647	chr7:126537001-126537002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182985628	chr7:126537006-126537007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569680476	chr7:126537007-126537008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368646678	chr7:126537012-126537013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552522741	chr7:126537040-126537041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2402833	chr7:126537045-126537046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570726555	chr7:126537095-126537096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534598441	chr7:126537104-126537105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2896377	chr7:126537152-126537153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186244508	chr7:126537162-126537163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114028532	chr7:126537169-126537170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2402834	chr7:126537173-126537174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2402835	chr7:126537181-126537182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2896378	chr7:126537194-126537195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190619335	chr7:126537200-126537201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556993217	chr7:126537226-126537227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575235456	chr7:126537231-126537232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200668732	chr7:126537251-126537252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2896379	chr7:126537288-126537289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2159703	chr7:126537298-126537299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187789052	chr7:126537305-126537306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573232921	chr7:126537320-126537321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540545686	chr7:126537349-126537350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113459157	chr7:126537351-126537352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192226934	chr7:126537377-126537378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs58714513	chr7:126537422-126537423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183157943	chr7:126537426-126537427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557841707	chr7:126537445-126537446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187447274	chr7:126537475-126537476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563345698	chr7:126537496-126537497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111865367	chr7:126537516-126537517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552236263	chr7:126537541-126537542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527792800	chr7:126537657-126537658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191953280	chr7:126537677-126537678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35953635	chr7:126537680-126537681	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs112849965	chr7:126537714-126537715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71576302	chr7:126537721-126537722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568254338	chr7:126537731-126537732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535247960	chr7:126537824-126537825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
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
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126536600-126537400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:126537200-126537400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:126537200-126538200	Enhancers	Fetal Heart	heart
4	chr7:126537400-126538000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:126537400-126540800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:126540800-126541000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:126544200-126545000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:126547400-126549000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:126547600-126547800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:126547600-126548000	Active TSS	Brain Anterior Caudate	brain
11	chr7:126547600-126548000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr7:126547800-126548200	Active TSS	Brain Hippocampus Middle	brain

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