Variant report

Variant	esv3330349
Chromosome Location	chr7:124249050-124277678
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	chr7:124270665..124272540-chr7:124297946..124299539,2	K562	blood:
2	chr7:124244631..124246147-chr7:124248591..124250431,2	K562	blood:

Extended variants
information (count: 449 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:449 , 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	rs529707436	chr7:124258606-124258607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376998672	chr7:124258621-124258622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146194103	chr7:124258628-124258629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565897362	chr7:124258641-124258642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535016117	chr7:124258667-124258668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4295588	chr7:124258675-124258676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571597828	chr7:124258711-124258712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537443129	chr7:124258712-124258713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546511998	chr7:124258743-124258744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574103139	chr7:124258758-124258759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543109394	chr7:124258789-124258790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553238784	chr7:124258792-124258793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573055733	chr7:124258833-124258834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138797381	chr7:124258835-124258836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61617280	chr7:124258837-124258838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs530678874	chr7:124258859-124258860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185723258	chr7:124258995-124258996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377166665	chr7:124259037-124259038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529751866	chr7:124259044-124259045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576237791	chr7:124259083-124259084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546271658	chr7:124259119-124259120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543560902	chr7:124259149-124259150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565961000	chr7:124259150-124259151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548653089	chr7:124259196-124259197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528659099	chr7:124259230-124259231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76337169	chr7:124259236-124259237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368967711	chr7:124259248-124259249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114610330	chr7:124259264-124259265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565352093	chr7:124259327-124259328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71520305	chr7:124267810-124267811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs398048073	chr7:124267821-124267822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148563923	chr7:124267841-124267842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1404412	chr7:124267864-124267865	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs538462408	chr7:124267885-124267886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs193178881	chr7:124267892-124267893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185292558	chr7:124267895-124267896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537711816	chr7:124267930-124267931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189791441	chr7:124267943-124267944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77315753	chr7:124267956-124267957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539984594	chr7:124267958-124267959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35936075	chr7:124268026-124268027	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs576825904	chr7:124268040-124268041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566678134	chr7:124268043-124268044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78093751	chr7:124268047-124268048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569709699	chr7:124268050-124268051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1917357	chr7:124268066-124268067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs558627219	chr7:124268086-124268087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544900765	chr7:124268151-124268152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142547798	chr7:124268160-124268161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147167020	chr7:124268170-124268171	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124258600-124259400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:124267800-124268600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:124268600-124270000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:124270000-124271400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:124270600-124271600	Enhancers	Fetal Brain Female	brain
6	chr7:124271400-124287600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:124274200-124274400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:124274400-124285800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:124275200-124275600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:124275200-124277000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:124275400-124275800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr7:124275400-124275800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:124275400-124276400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:124275600-124276000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr7:124275800-124276200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr7:124275800-124276400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:124275800-124276800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:124275800-124276800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:124276000-124276800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:124276000-124277200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:124276200-124277200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:124276800-124280400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:124277000-124280400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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