Variant report

Variant	esv3380427
Chromosome Location	chr7:123886466-123888514
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	chr7:123887405..123889302-chr7:123890495..123893294,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12112403	chr7:123886473-123886474	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184100067	chr7:123886486-123886487	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs535609207	chr7:123886547-123886548	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189527940	chr7:123886549-123886550	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565779872	chr7:123886577-123886578	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs534510709	chr7:123886620-123886621	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557587953	chr7:123886625-123886626	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs577540326	chr7:123886713-123886714	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs181026829	chr7:123886737-123886738	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs78741856	chr7:123886753-123886754	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs187287602	chr7:123886757-123886758	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542405120	chr7:123886805-123886806	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs559402019	chr7:123886872-123886873	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs527848595	chr7:123886874-123886875	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145543519	chr7:123886883-123886884	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs564740413	chr7:123886964-123886965	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs542623452	chr7:123886970-123886971	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs372018742	chr7:123886974-123886975	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs112995653	chr7:123886981-123886982	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs1019196	chr7:123887029-123887030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115049233	chr7:123887092-123887093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199941421	chr7:123887103-123887104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529382791	chr7:123887121-123887122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111520259	chr7:123887130-123887131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549159328	chr7:123887144-123887145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191082692	chr7:123887155-123887156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200517427	chr7:123887244-123887245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534474155	chr7:123887254-123887255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569896771	chr7:123887262-123887263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201687949	chr7:123887266-123887267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199986347	chr7:123887267-123887268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28603368	chr7:123887268-123887269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557561342	chr7:123887273-123887274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368908376	chr7:123887276-123887277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28480150	chr7:123887278-123887279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536992457	chr7:123887280-123887281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28549339	chr7:123887286-123887287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372243056	chr7:123887298-123887299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28669159	chr7:123887300-123887301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62472155	chr7:123887302-123887303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375928780	chr7:123887308-123887309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573511480	chr7:123887316-123887317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200316967	chr7:123887318-123887319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368923251	chr7:123887329-123887330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71163723	chr7:123887331-123887332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372008814	chr7:123887332-123887333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62472156	chr7:123887340-123887341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113115812	chr7:123887342-123887343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62472157	chr7:123887344-123887345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62472158	chr7:123887346-123887347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Epilepsy	21635232	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

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:123884600-123887200	Enhancers	HMEC	breast
2	chr7:123884800-123887200	Enhancers	NHEK	skin
3	chr7:123885400-123887200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:123885600-123886600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:123885600-123887200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:123885800-123887200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:123886200-123886600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:123886200-123886800	Enhancers	NH-A	brain
9	chr7:123886200-123887000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:123886200-123887000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:123886200-123887000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:123886200-123887000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:123886200-123887200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:123886400-123886600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:123886400-123886800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:123886400-123886800	Enhancers	HepG2	liver
17	chr7:123886400-123887000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:123886400-123887000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:123886400-123887000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr7:123886600-123887000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:123886600-123887200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:123887000-123887600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:123887200-123903600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:123887600-123889000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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