Variant report

Variant	esv2597001
Chromosome Location	chr4:106147647-106149146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106140728..106143499-chr4:106146787..106149760,3	MCF-7	breast:
2	chr4:105886080..105887658-chr4:106145712..106147996,2	MCF-7	breast:
3	chr4:106066247..106068119-chr4:106148924..106151685,2	MCF-7	breast:
4	chr4:106148051..106150372-chr4:106152315..106153818,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168769	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150833617	chr4:106147707-106147708	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs189984532	chr4:106147725-106147726	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552287277	chr4:106147750-106147751	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs562935734	chr4:106147768-106147769	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs531960183	chr4:106147784-106147785	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs548457690	chr4:106147823-106147824	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs568428334	chr4:106147824-106147825	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs533904012	chr4:106147840-106147841	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs547391408	chr4:106147878-106147879	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs79553225	chr4:106147908-106147909	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs550728490	chr4:106147913-106147914	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs9998069	chr4:106147919-106147920	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139294824	chr4:106147944-106147945	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs370908076	chr4:106147947-106147948	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs149600453	chr4:106147998-106147999	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs574784689	chr4:106148068-106148069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113114782	chr4:106148079-106148080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72955198	chr4:106148136-106148137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182748423	chr4:106148150-106148151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs36009508	chr4:106148152-106148153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564169298	chr4:106148213-106148214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115216836	chr4:106148215-106148216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13143564	chr4:106148222-106148223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187512611	chr4:106148223-106148224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79310287	chr4:106148278-106148279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192363767	chr4:106148311-106148312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527988116	chr4:106148424-106148425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547726035	chr4:106148465-106148466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79269376	chr4:106148483-106148484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183669722	chr4:106148629-106148630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533793976	chr4:106148644-106148645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386678063	chr4:106148646-106148647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386678064	chr4:106148651-106148652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549993357	chr4:106148653-106148654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570151963	chr4:106148664-106148665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538012626	chr4:106148711-106148712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7674220	chr4:106148758-106148759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568300201	chr4:106148857-106148858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531612350	chr4:106148889-106148890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534075610	chr4:106148922-106148923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554060116	chr4:106148950-106148951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531939568	chr4:106148968-106148969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79298611	chr4:106148969-106148970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs115912650	chr4:106148994-106148995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11947617	chr4:106149006-106149007	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562216727	chr4:106149020-106149021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs527822468	chr4:106149062-106149063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556023983	chr4:106149063-106149064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Myelodysplastic syndrome	21518781	CNVD
Myelomonocytic leukemia	20595094	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106106200-106155000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr4:106113000-106154800	Weak transcription	Fetal Thymus	thymus
3	chr4:106113600-106173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:106113600-106195800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:106114400-106155200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:106114600-106155600	Weak transcription	Esophagus	oesophagus
7	chr4:106118000-106155400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:106118800-106155000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:106118800-106155200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:106127600-106155000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:106127600-106155400	Weak transcription	Placenta	Placenta
12	chr4:106127800-106155200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:106127800-106155200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:106128000-106154000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:106131800-106155000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:106132000-106153200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:106132400-106154600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:106133400-106155000	Weak transcription	Fetal Lung	lung
19	chr4:106133800-106155000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:106135200-106155000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:106135200-106155000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:106136000-106155000	Weak transcription	Fetal Stomach	stomach
23	chr4:106136000-106157400	Weak transcription	Right Ventricle	heart
24	chr4:106136400-106155000	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:106136800-106155200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:106137000-106155200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:106137400-106155200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:106137600-106155000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr4:106137600-106155400	Weak transcription	HSMM	muscle
30	chr4:106137600-106155600	Weak transcription	Fetal Intestine Small	intestine
31	chr4:106137800-106155000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:106137800-106155000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:106138200-106155000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:106138400-106155200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:106139000-106155200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:106139200-106155200	Weak transcription	Fetal Intestine Large	intestine
37	chr4:106140000-106155000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr4:106141000-106155600	Weak transcription	Gastric	stomach
39	chr4:106142000-106155000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:106142000-106155400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:106142000-106190800	Weak transcription	Small Intestine	intestine
42	chr4:106145600-106155200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:106145600-106155200	Weak transcription	Fetal Kidney	kidney
44	chr4:106145600-106155200	Weak transcription	Ovary	ovary
45	chr4:106145600-106155400	Weak transcription	Fetal Brain Female	brain
46	chr4:106145600-106155600	Weak transcription	Brain Substantia Nigra	brain
47	chr4:106145600-106167400	Weak transcription	NHDF-Ad	bronchial
48	chr4:106145800-106155200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:106145800-106155600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:106145800-106155800	Weak transcription	Brain Anterior Caudate	brain

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