Variant report

Variant	esv3465904
Chromosome Location	chr4:107056498-107063434
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	chr4:107057719..107060245-chr4:107065228..107066927,2	K562	blood:
2	chr4:106817910..106819582-chr4:107062720..107065633,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168743	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540601578	chr4:107056536-107056537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374589412	chr4:107056579-107056580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563784903	chr4:107056654-107056655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533436709	chr4:107056687-107056688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550068095	chr4:107056696-107056697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564303960	chr4:107056704-107056705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563855387	chr4:107056820-107056821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533079884	chr4:107056824-107056825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117194057	chr4:107056825-107056826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187983525	chr4:107056826-107056827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566028367	chr4:107056874-107056875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72964475	chr4:107056878-107056879	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114846130	chr4:107056940-107056941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146094485	chr4:107056959-107056960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539705221	chr4:107057032-107057033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181920699	chr4:107057074-107057075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576159649	chr4:107057109-107057110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200800939	chr4:107057290-107057291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200830110	chr4:107057298-107057299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555564643	chr4:107057317-107057318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139834401	chr4:107057353-107057354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114028344	chr4:107057361-107057362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113183640	chr4:107057373-107057374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112654327	chr4:107057383-107057384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147382347	chr4:107057391-107057392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187259816	chr4:107057419-107057420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535542826	chr4:107057460-107057461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191693000	chr4:107057539-107057540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181756913	chr4:107057640-107057641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115049038	chr4:107057699-107057700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529628406	chr4:107057705-107057706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74936399	chr4:107057710-107057711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540144565	chr4:107057719-107057720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529229297	chr4:107057750-107057751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72964479	chr4:107057908-107057909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559945258	chr4:107057991-107057992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9991203	chr4:107058025-107058026	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs551915073	chr4:107058039-107058040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534283435	chr4:107058056-107058057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10025668	chr4:107058058-107058059	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190225484	chr4:107058059-107058060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182536999	chr4:107058076-107058077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35184687	chr4:107058100-107058101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34405545	chr4:107058117-107058118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569827778	chr4:107058133-107058134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149416870	chr4:107058178-107058179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10025872	chr4:107058232-107058233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72964483	chr4:107058244-107058245	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186861217	chr4:107058345-107058346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571884661	chr4:107058390-107058391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107032000-107058200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:107035200-107057200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:107035600-107083200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:107037600-107060600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:107037600-107061600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:107037600-107066400	Weak transcription	Fetal Kidney	kidney
7	chr4:107037800-107077400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:107038000-107056800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:107038000-107112000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:107053600-107067600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:107053800-107058200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:107053800-107061400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:107053800-107064200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:107053800-107070000	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:107053800-107080000	Weak transcription	Right Ventricle	heart
16	chr4:107053800-107083400	Weak transcription	HSMM	muscle
17	chr4:107053800-107083800	Weak transcription	Left Ventricle	heart
18	chr4:107053800-107101600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr4:107054000-107057600	Weak transcription	Brain Substantia Nigra	brain
20	chr4:107054000-107057800	Weak transcription	Fetal Thymus	thymus
21	chr4:107054000-107057800	Weak transcription	Dnd41	blood
22	chr4:107054000-107063400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:107054000-107066400	Weak transcription	Liver	Liver
24	chr4:107054000-107067000	Weak transcription	Fetal Lung	lung
25	chr4:107054000-107067000	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:107054000-107067800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:107054000-107070000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:107054000-107070400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:107054000-107074400	Weak transcription	HepG2	liver
30	chr4:107054000-107076800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:107054000-107077000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:107054000-107077000	Weak transcription	Fetal Intestine Large	intestine
33	chr4:107054000-107077400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:107054000-107077400	Weak transcription	Aorta	Aorta
35	chr4:107054000-107077400	Weak transcription	Fetal Stomach	stomach
36	chr4:107054000-107077400	Weak transcription	Lung	lung
37	chr4:107054000-107081600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr4:107054000-107083200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:107054000-107083400	Weak transcription	Pancreas	Pancrea
40	chr4:107054000-107091000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:107054000-107113600	Weak transcription	Brain Anterior Caudate	brain
42	chr4:107054200-107057600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:107054200-107062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:107054200-107065800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:107054200-107070000	Weak transcription	Adipose Nuclei	Adipose
46	chr4:107054200-107083400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:107054600-107064600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr4:107054600-107074400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:107055200-107056800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:107055200-107056800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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