Variant report

Variant	esv3442911
Chromosome Location	chr4:7758252-7758390
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	chr4:7735719..7739049-chr4:7756418..7759523,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537999893	chr4:7758252-7758253	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543827932	chr4:7758253-7758254	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs578041640	chr4:7758259-7758260	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs62291975	chr4:7758262-7758263	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs62291976	chr4:7758265-7758266	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs13136620	chr4:7758267-7758268	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369965654	chr4:7758268-7758269	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs13138144	chr4:7758284-7758285	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs13138152	chr4:7758287-7758288	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113760455	chr4:7758292-7758293	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184532769	chr4:7758299-7758300	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs62291977	chr4:7758307-7758308	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554483691	chr4:7758308-7758309	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs13138176	chr4:7758324-7758325	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs62291978	chr4:7758327-7758328	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs13138185	chr4:7758332-7758333	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs13138193	chr4:7758339-7758340	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13136687	chr4:7758347-7758348	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs71175427	chr4:7758363-7758364	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs56352084	chr4:7758364-7758365	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562189234	chr4:7758365-7758366	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561370472	chr4:7758370-7758371	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189413034	chr4:7758385-7758386	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7740200-7765000	Weak transcription	Aorta	Aorta
2	chr4:7740600-7762400	Weak transcription	Pancreas	Pancrea
3	chr4:7746000-7758800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr4:7746200-7758600	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:7746200-7772000	Weak transcription	Brain Anterior Caudate	brain
6	chr4:7747200-7761800	Weak transcription	Colonic Mucosa	Colon
7	chr4:7749400-7760000	Weak transcription	HSMMtube	muscle
8	chr4:7749400-7765600	Weak transcription	Fetal Brain Male	brain
9	chr4:7749400-7767000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:7749600-7759000	Weak transcription	Spleen	Spleen
11	chr4:7751800-7761000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:7752800-7758600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:7752800-7767400	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:7753000-7758400	Weak transcription	A549	lung
15	chr4:7753000-7760400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:7753000-7761200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:7753200-7760200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:7753200-7761000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:7753600-7758600	Weak transcription	Fetal Intestine Large	intestine
20	chr4:7753600-7758800	Strong transcription	Fetal Stomach	stomach
21	chr4:7753800-7758600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:7754000-7762000	Weak transcription	NHLF	lung
23	chr4:7754200-7765400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:7755000-7758800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:7755400-7763200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:7755400-7768400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:7755800-7758800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:7756000-7761400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:7756000-7766000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:7756200-7762200	Weak transcription	NHEK	skin
31	chr4:7756400-7758600	Weak transcription	HSMM	muscle
32	chr4:7756400-7761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:7756400-7762200	Weak transcription	HMEC	breast
34	chr4:7756400-7767800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:7756600-7764400	Weak transcription	Esophagus	oesophagus
36	chr4:7756600-7768000	Weak transcription	Brain Angular Gyrus	brain
37	chr4:7756800-7758600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:7757000-7772000	Strong transcription	Brain Germinal Matrix	brain
39	chr4:7757200-7758600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:7757200-7759400	Strong transcription	Fetal Brain Female	brain
41	chr4:7757200-7760200	Weak transcription	Fetal Thymus	thymus
42	chr4:7757400-7758600	Strong transcription	Fetal Muscle Leg	muscle
43	chr4:7757400-7758600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:7757600-7760000	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr4:7757600-7764400	Strong transcription	NH-A	brain
46	chr4:7757600-7765400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:7757600-7765400	Strong transcription	Osteobl	bone
48	chr4:7757600-7770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:7757600-7779600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:7757800-7759200	Strong transcription	Lung	lung

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