Variant report

Variant	esv3349766
Chromosome Location	chr4:7715369-7715690
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	chr4:7712590..7714716-chr4:7715275..7718510,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59948730	chr4:7715393-7715394	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373652600	chr4:7715457-7715458	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs556048714	chr4:7715466-7715467	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs368915892	chr4:7715481-7715482	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs574118256	chr4:7715489-7715490	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538466117	chr4:7715501-7715502	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs556615870	chr4:7715533-7715534	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs139464744	chr4:7715545-7715546	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575042063	chr4:7715547-7715548	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs567758938	chr4:7715577-7715578	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs183157969	chr4:7715617-7715618	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs563695357	chr4:7715625-7715626	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs148484617	chr4:7715645-7715646	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs16840889	chr4:7715651-7715652	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs562029752	chr4:7715675-7715676	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs529059063	chr4:7715681-7715682	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7679800-7715600	Weak transcription	Brain Germinal Matrix	brain
2	chr4:7686200-7721000	Weak transcription	Brain Anterior Caudate	brain
3	chr4:7691600-7716200	Weak transcription	Brain Angular Gyrus	brain
4	chr4:7699400-7721200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:7707400-7715400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:7707600-7715400	Weak transcription	Fetal Intestine Small	intestine
7	chr4:7707600-7715800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:7707800-7716000	Weak transcription	Ovary	ovary
9	chr4:7708000-7715800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:7712000-7715600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:7713200-7715800	Weak transcription	Brain Substantia Nigra	brain
12	chr4:7713200-7718600	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:7713400-7721000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:7713600-7716200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:7714000-7715600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr4:7714400-7715400	Weak transcription	Fetal Stomach	stomach
17	chr4:7714600-7718000	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr4:7714600-7719000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:7715000-7715400	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:7715200-7715400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:7715400-7715600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:7715400-7715600	Strong transcription	Fetal Intestine Small	intestine
23	chr4:7715400-7716000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:7715400-7716600	ZNF genes & repeats	Fetal Muscle Leg	muscle
25	chr4:7715400-7716600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
26	chr4:7715400-7717000	ZNF genes & repeats	Fetal Stomach	stomach
27	chr4:7715600-7715800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:7715600-7715800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:7715600-7716200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:7715600-7716200	ZNF genes & repeats	Brain Germinal Matrix	brain
31	chr4:7715600-7716600	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr4:7715600-7716800	ZNF genes & repeats	Esophagus	oesophagus
33	chr4:7715600-7718000	Weak transcription	Stomach Smooth Muscle	stomach

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