Variant report

Variant	esv1815106
Chromosome Location	chr7:119366996-119384595
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:
2	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
3	chr7:119379398..119381523-chr7:119383284..119384885,2	K562	blood:
4	chr7:119374698..119376654-chr7:119378712..119381116,2	K562	blood:
5	chr7:119383539..119386290-chr7:119392991..119394503,2	K562	blood:
6	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
7	chr7:119364396..119367239-chr7:119368438..119370916,2	K562	blood:
8	chr7:119364721..119367176-chr7:119381458..119383230,2	K562	blood:
9	chr7:119374698..119376654-chr7:119378712..119381116,2	K562	blood:
10	chr7:119368480..119370359-chr7:119372677..119374451,2	K562	blood:
11	chr7:119364721..119367176-chr7:119381458..119383230,2	K562	blood:
12	chr7:119379398..119381523-chr7:119383284..119384885,2	K562	blood:
13	chr7:119364396..119367239-chr7:119368438..119370916,2	K562	blood:
14	chr7:119360284..119363279-chr7:119373457..119376079,2	K562	blood:
15	chr7:119360959..119363712-chr7:119366753..119368692,2	K562	blood:
16	chr7:119370722..119372961-chr7:119382422..119384559,2	K562	blood:
17	chr7:119368480..119370359-chr7:119372677..119374451,2	K562	blood:
18	chr7:119370722..119372961-chr7:119382422..119384559,2	K562	blood:

No data

Extended variants
information (count: 641 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:641 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs884489	chr7:119366996-119366997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539396579	chr7:119367008-119367009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7780663	chr7:119367022-119367023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576261721	chr7:119367042-119367043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542046389	chr7:119367048-119367049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527841962	chr7:119367084-119367085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114285853	chr7:119367143-119367144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77966509	chr7:119367144-119367145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541396651	chr7:119367153-119367154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539469058	chr7:119367162-119367163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564373104	chr7:119367181-119367182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578035068	chr7:119367299-119367300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373438093	chr7:119367303-119367304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550167770	chr7:119367306-119367307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141608414	chr7:119367338-119367339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61661474	chr7:119367343-119367344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528903391	chr7:119367350-119367351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527411663	chr7:119367371-119367372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547365264	chr7:119367390-119367391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201134161	chr7:119367411-119367412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117384556	chr7:119367423-119367424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562669631	chr7:119367431-119367432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150092313	chr7:119367434-119367435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556135360	chr7:119367441-119367442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569985390	chr7:119367511-119367512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138428720	chr7:119367515-119367516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555630938	chr7:119367530-119367531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs207468495	chr7:119367581-119367582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572570087	chr7:119367582-119367583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541210119	chr7:119367599-119367600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs36026634	chr7:119367606-119367607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189063927	chr7:119367618-119367619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs118135555	chr7:119367631-119367632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60631189	chr7:119367635-119367636	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs563605133	chr7:119367652-119367653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531428234	chr7:119367662-119367663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542788951	chr7:119367703-119367704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559565118	chr7:119367723-119367724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527374018	chr7:119367734-119367735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547135182	chr7:119367753-119367754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570527307	chr7:119367754-119367755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13239003	chr7:119367827-119367828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190763966	chr7:119367842-119367843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549785265	chr7:119367948-119367949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372753287	chr7:119367954-119367955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569947642	chr7:119367966-119367967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535796902	chr7:119367983-119367984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555593890	chr7:119368017-119368018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565840395	chr7:119368030-119368031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73211890	chr7:119368041-119368042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119364800-119416000	Weak transcription	K562	blood
2	chr7:119366200-119367600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:119367600-119368000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:119368000-119374400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:119372800-119374400	Enhancers	HMEC	breast
6	chr7:119373000-119373600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:119373000-119373600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:119373000-119373800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:119373000-119374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:119373000-119374200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:119373000-119374200	Enhancers	NHEK	skin
12	chr7:119373600-119374000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:119374000-119374400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:119374400-119374600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:119382600-119384200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:119382800-119383400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:119383200-119384000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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