Variant report

Variant	esv3445634
Chromosome Location	chr4:20257536-20257842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:20252458..20255013-chr4:20255238..20258452,3	MCF-7	breast:
2	chr4:20240508..20242513-chr4:20257215..20258774,2	K562	blood:
3	chr4:20252097..20254985-chr4:20256141..20260392,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145147	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188695470	chr4:20257567-20257568	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574272285	chr4:20257640-20257641	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535262776	chr4:20257655-20257656	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs111986704	chr4:20257660-20257661	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140170478	chr4:20257767-20257768	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6831088	chr4:20257769-20257770	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563695615	chr4:20257782-20257783	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575273420	chr4:20257783-20257784	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs374461665	chr4:20257784-20257785	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20252200-20258200	Active TSS	NHDF-Ad	bronchial
2	chr4:20252600-20257800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:20252800-20258600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:20253000-20257600	Active TSS	Colon Smooth Muscle	Colon
5	chr4:20253000-20258000	Active TSS	Placenta Amnion	Placenta Amnion
6	chr4:20253000-20259000	Active TSS	Aorta	Aorta
7	chr4:20253200-20257600	Active TSS	Brain Angular Gyrus	brain
8	chr4:20253800-20258400	Flanking Active TSS	HUVEC	blood vessel
9	chr4:20254200-20259400	Transcr. at gene 5' and 3'	Fetal Lung	lung
10	chr4:20254800-20258000	Active TSS	Right Atrium	heart
11	chr4:20255400-20257800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
12	chr4:20255800-20258000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:20256200-20257600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:20256200-20257600	Active TSS	NH-A	brain
15	chr4:20256400-20257600	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr4:20256400-20258000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr4:20256400-20259800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:20256600-20257600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
19	chr4:20256600-20257800	Active TSS	Placenta	Placenta
20	chr4:20256600-20258400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:20256600-20258600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
22	chr4:20256800-20258800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:20257000-20257800	Active TSS	Brain Anterior Caudate	brain
24	chr4:20257000-20257800	Active TSS	Rectal Smooth Muscle	rectum
25	chr4:20257000-20258200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
26	chr4:20257000-20258400	Active TSS	NHLF	lung
27	chr4:20257200-20257600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:20257200-20257600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
29	chr4:20257200-20257600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr4:20257200-20257600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr4:20257200-20257600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:20257200-20257600	Bivalent Enhancer	Brain Germinal Matrix	brain
33	chr4:20257200-20257600	Active TSS	Brain Hippocampus Middle	brain
34	chr4:20257200-20257600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr4:20257200-20257600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr4:20257200-20257600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
37	chr4:20257200-20257600	Enhancers	HMEC	breast
38	chr4:20257200-20257800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr4:20257200-20257800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
40	chr4:20257200-20257800	Bivalent/Poised TSS	Fetal Brain Male	brain
41	chr4:20257200-20257800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
42	chr4:20257200-20258000	Active TSS	Adipose Nuclei	Adipose
43	chr4:20257200-20258200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:20257200-20258200	Active TSS	Fetal Stomach	stomach
45	chr4:20257200-20258400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:20257200-20259200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:20257400-20257600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
48	chr4:20257400-20257600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:20257400-20257600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr4:20257400-20257600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

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