Variant report

Variant	esv3333878
Chromosome Location	chr4:7901940-7902194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7900242..7903106-chr4:7943268..7945113,2	MCF-7	breast:
2	chr4:7896306..7899121-chr4:7899762..7902473,2	MCF-7	breast:
3	chr4:7881697..7884478-chr4:7901263..7903029,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 53 )

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	rs4478172	chr4:7902003-7902004	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538999015	chr4:7902008-7902009	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28419188	chr4:7902020-7902021	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529009970	chr4:7902045-7902046	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140326410	chr4:7902062-7902063	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373118608	chr4:7902063-7902064	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543632381	chr4:7902064-7902065	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371356418	chr4:7902065-7902066	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550371547	chr4:7902094-7902095	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60493935	chr4:7902099-7902100	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76952029	chr4:7902104-7902105	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77265021	chr4:7902105-7902106	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140193210	chr4:7902106-7902107	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568858719	chr4:7902107-7902108	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188203890	chr4:7902121-7902122	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192983863	chr4:7902122-7902123	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7883200-7904400	Weak transcription	Gastric	stomach
2	chr4:7886800-7904400	Weak transcription	Small Intestine	intestine
3	chr4:7892600-7903800	Weak transcription	Stomach Mucosa	stomach
4	chr4:7893000-7902200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:7893200-7903400	Weak transcription	Fetal Kidney	kidney
6	chr4:7893200-7905600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:7893800-7902600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr4:7894200-7902000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:7894200-7912400	Weak transcription	Fetal Intestine Large	intestine
10	chr4:7894400-7904400	Weak transcription	Left Ventricle	heart
11	chr4:7894400-7906200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:7894600-7902800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:7895600-7907600	Weak transcription	Colonic Mucosa	Colon
14	chr4:7896000-7902600	Weak transcription	Aorta	Aorta
15	chr4:7896800-7903000	Weak transcription	Placenta	Placenta
16	chr4:7896800-7903200	Weak transcription	Right Ventricle	heart
17	chr4:7896800-7904400	Weak transcription	Adipose Nuclei	Adipose
18	chr4:7896800-7904400	Weak transcription	Spleen	Spleen
19	chr4:7896800-7907600	Weak transcription	Fetal Intestine Small	intestine
20	chr4:7897000-7902200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:7897000-7902200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:7897000-7902800	Weak transcription	Right Atrium	heart
23	chr4:7897000-7907400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:7897400-7905800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:7898600-7902600	Enhancers	Brain Germinal Matrix	brain
26	chr4:7898600-7904400	Enhancers	A549	lung
27	chr4:7898800-7902600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:7898800-7905200	Enhancers	Colon Smooth Muscle	Colon
29	chr4:7899200-7905800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:7899400-7902000	Weak transcription	Fetal Heart	heart
31	chr4:7899400-7903000	Enhancers	Fetal Stomach	stomach
32	chr4:7899600-7907000	Enhancers	Fetal Brain Male	brain
33	chr4:7899800-7902200	Weak transcription	NHDF-Ad	bronchial
34	chr4:7899800-7930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:7900000-7902000	Weak transcription	NH-A	brain
36	chr4:7900000-7902200	Weak transcription	Lung	lung
37	chr4:7900000-7902200	Weak transcription	Ovary	ovary
38	chr4:7900000-7904000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:7900000-7905000	Weak transcription	HMEC	breast
40	chr4:7900000-7906400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:7900000-7907400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:7900200-7905400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:7900200-7905600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr4:7900200-7912400	Weak transcription	NHEK	skin
45	chr4:7900400-7902000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:7900400-7902200	Weak transcription	NHLF	lung
47	chr4:7900400-7904400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:7900400-7904600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr4:7900400-7905800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:7900800-7905000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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