Variant report

Variant	esv3327893
Chromosome Location	chr4:534752-536850
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	chr4:529370..531004-chr4:536225..538631,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174227	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567712430	chr4:534767-534768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569474443	chr4:534785-534786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569668831	chr4:534816-534817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs36023730	chr4:534878-534879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200835688	chr4:534926-534927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145696627	chr4:534929-534930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201886751	chr4:534934-534935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536916302	chr4:534948-534949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10014602	chr4:534965-534966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs535301276	chr4:535004-535005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143562495	chr4:535011-535012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75756898	chr4:535020-535021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533918752	chr4:535021-535022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77256789	chr4:535022-535023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75188677	chr4:535025-535026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10003485	chr4:535064-535065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs575515786	chr4:535098-535099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545435147	chr4:535116-535117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574316007	chr4:535154-535155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541687759	chr4:535160-535161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34617965	chr4:535163-535164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560002302	chr4:535173-535174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527613681	chr4:535201-535202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545470011	chr4:535267-535268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569511570	chr4:535352-535353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377496045	chr4:535365-535366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572913762	chr4:535369-535370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78708960	chr4:535379-535380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75247335	chr4:535387-535388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77321975	chr4:535388-535389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376141843	chr4:535390-535391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149303729	chr4:535485-535486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368169195	chr4:535486-535487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199998169	chr4:535489-535490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145128891	chr4:535493-535494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35882455	chr4:535494-535495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530328071	chr4:535524-535525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201029158	chr4:535525-535526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140912476	chr4:535549-535550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201974524	chr4:535573-535574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144174111	chr4:535574-535575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs398106918	chr4:535576-535577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372515843	chr4:535600-535601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190908242	chr4:535606-535607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183411077	chr4:535616-535617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374956849	chr4:535623-535624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144713016	chr4:535650-535651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549922616	chr4:535698-535699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537272358	chr4:535707-535708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569439256	chr4:535715-535716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:510000-535400	Weak transcription	Hela-S3	cervix
2	chr4:522800-535000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:526400-535000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:527800-534800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:528400-535000	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:529000-535000	Weak transcription	Fetal Lung	lung
7	chr4:529800-542400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:530800-534800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:530800-535200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:530800-536000	Weak transcription	NHEK	skin
11	chr4:531600-535000	Weak transcription	Brain Substantia Nigra	brain
12	chr4:531600-535400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:531800-534800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:531800-542600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:532000-535000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:532000-535000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:532000-535600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:532000-535800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:532000-536200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:532000-537000	Weak transcription	Primary T cells from cord blood	blood
21	chr4:532200-534800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:532200-534800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:532200-534800	Weak transcription	NH-A	brain
24	chr4:532200-535000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:532200-542600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:532200-549000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:532600-534800	Weak transcription	Brain Germinal Matrix	brain
28	chr4:532600-536800	Weak transcription	Ovary	ovary
29	chr4:532600-537000	Weak transcription	Aorta	Aorta
30	chr4:532800-534800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:532800-535000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:532800-536000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:532800-537000	Weak transcription	Fetal Intestine Small	intestine
34	chr4:533000-534800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr4:533000-535000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:533000-535400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:533000-535400	Weak transcription	HSMMtube	muscle
38	chr4:533000-535800	Weak transcription	Fetal Brain Female	brain
39	chr4:533000-536000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:533000-536200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr4:533000-536400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:533000-537400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:533000-537400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:533000-537400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:533000-537600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:533200-534800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr4:533200-535000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:533200-535200	Weak transcription	Adipose Nuclei	Adipose
49	chr4:533200-535200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr4:533200-535600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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