Variant report

Variant	esv3440191
Chromosome Location	chr4:7634477-7637025
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	chr4:7631134..7633371-chr4:7634868..7637393,3	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74375003	chr4:7634509-7634510	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs528533953	chr4:7634514-7634515	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs147664245	chr4:7634524-7634525	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs79589792	chr4:7634528-7634529	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs529265920	chr4:7634529-7634530	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs540960668	chr4:7634533-7634534	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs6446611	chr4:7634609-7634610	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569560951	chr4:7634623-7634624	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2234766	chr4:7634634-7634635	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs4689811	chr4:7634687-7634688	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs180901627	chr4:7634747-7634748	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs534386829	chr4:7634748-7634749	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs553057203	chr4:7634752-7634753	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs34169165	chr4:7634778-7634779	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs184896314	chr4:7634779-7634780	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs6837688	chr4:7634820-7634821	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556581311	chr4:7634828-7634829	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs560306126	chr4:7634830-7634831	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs575147205	chr4:7634866-7634867	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs545700691	chr4:7634883-7634884	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs34714146	chr4:7634892-7634893	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs564089702	chr4:7634925-7634926	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs573013683	chr4:7634939-7634940	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs142361080	chr4:7634946-7634947	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs540081537	chr4:7634969-7634970	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs562196343	chr4:7634970-7634971	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs529446739	chr4:7634999-7635000	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs188637645	chr4:7635010-7635011	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs572112685	chr4:7635033-7635034	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs11729483	chr4:7635042-7635043	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs148367139	chr4:7635049-7635050	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs76587530	chr4:7635064-7635065	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs141579974	chr4:7635089-7635090	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs181077912	chr4:7635093-7635094	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs549347563	chr4:7635107-7635108	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs112948879	chr4:7635129-7635130	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs138001017	chr4:7635150-7635151	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs552939176	chr4:7635153-7635154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs372332331	chr4:7635184-7635185	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs556497214	chr4:7635194-7635195	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574906925	chr4:7635220-7635221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186003985	chr4:7635223-7635224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190409559	chr4:7635230-7635231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573089839	chr4:7635237-7635238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540411601	chr4:7635248-7635249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555319055	chr4:7635255-7635256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs137907478	chr4:7635272-7635273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111768271	chr4:7635275-7635276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544728690	chr4:7635280-7635281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562837653	chr4:7635291-7635292	Weak transcription Enhancers	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7631200-7635000	Enhancers	Fetal Brain Male	brain
2	chr4:7631600-7634600	Enhancers	Brain Hippocampus Middle	brain
3	chr4:7631600-7635200	Enhancers	Right Ventricle	heart
4	chr4:7631800-7634600	Enhancers	Brain Cingulate Gyrus	brain
5	chr4:7631800-7634600	Enhancers	Brain Substantia Nigra	brain
6	chr4:7631800-7634600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr4:7631800-7634600	Enhancers	Left Ventricle	heart
8	chr4:7631800-7634800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr4:7631800-7635200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:7632200-7634600	Enhancers	Right Atrium	heart
11	chr4:7633000-7634600	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr4:7633000-7636400	Weak transcription	Spleen	Spleen
13	chr4:7633200-7634800	Enhancers	Fetal Heart	heart
14	chr4:7633200-7635400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:7633200-7635400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:7633200-7636600	Weak transcription	Esophagus	oesophagus
17	chr4:7633200-7643800	Weak transcription	Brain Anterior Caudate	brain
18	chr4:7633400-7635000	Enhancers	Brain Germinal Matrix	brain
19	chr4:7633400-7636400	Weak transcription	HSMM	muscle
20	chr4:7633400-7644400	Weak transcription	Ovary	ovary
21	chr4:7633600-7635000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
22	chr4:7633800-7634800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:7633800-7635000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:7633800-7635600	Enhancers	NH-A	brain
25	chr4:7633800-7646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:7634000-7634800	Weak transcription	NHLF	lung
27	chr4:7634200-7634600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr4:7634200-7634600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr4:7634200-7634600	Weak transcription	HepG2	liver
30	chr4:7634200-7634800	Flanking Active TSS	Fetal Brain Female	brain
31	chr4:7634200-7635600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:7634400-7634600	Enhancers	Brain Angular Gyrus	brain
33	chr4:7634400-7635600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:7634600-7635200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
35	chr4:7634600-7635200	Enhancers	HepG2	liver
36	chr4:7634600-7635600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:7634600-7644200	Weak transcription	Brain Substantia Nigra	brain
38	chr4:7634600-7644800	Weak transcription	Brain Angular Gyrus	brain
39	chr4:7634600-7645000	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:7634800-7635000	Enhancers	NHLF	lung
41	chr4:7634800-7635200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:7634800-7635200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr4:7634800-7635200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:7634800-7635200	Enhancers	Fetal Brain Female	brain
45	chr4:7634800-7635400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr4:7635000-7635200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
47	chr4:7635000-7635200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:7635000-7635400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr4:7635000-7636400	Weak transcription	NHLF	lung
50	chr4:7635000-7641600	Weak transcription	Fetal Brain Male	brain

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