Variant report

Variant	esv1812147
Chromosome Location	chr4:3467839-3474151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3287264..3290154-chr4:3470213..3472155,2	MCF-7	breast:
2	chr4:3343221..3349626-chr4:3462156..3471133,16	MCF-7	breast:
3	chr4:3075047..3077442-chr4:3472520..3475162,3	K562	blood:
4	chr11:3078361..3079999-chr4:3467036..3469656,2	MCF-7	breast:
5	chr4:3231157..3234122-chr4:3467560..3470032,2	MCF-7	breast:
6	chr4:3294365..3296058-chr4:3468605..3470363,2	MCF-7	breast:
7	chr4:3471602..3475518-chr4:3476351..3479966,4	K562	blood:
8	chr4:3292471..3295854-chr4:3462941..3467927,8	MCF-7	breast:
9	chr4:3113077..3115750-chr4:3467353..3469747,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110619	chromatin interactions
ENSG00000251075	chromatin interactions
ENSG00000197386	chromatin interactions
ENSG00000159788	chromatin interactions

Extended variants
information (count: 448 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534865329	chr4:3467839-3467840	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs140454436	chr4:3467841-3467842	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs566394718	chr4:3467891-3467892	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs555168542	chr4:3467957-3467958	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs75175342	chr4:3467958-3467959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs540961653	chr4:3467959-3467960	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs182302728	chr4:3467960-3467961	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs560485003	chr4:3468001-3468002	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs10031530	chr4:3468031-3468032	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546313059	chr4:3468036-3468037	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs368089717	chr4:3468037-3468038	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs73792098	chr4:3468058-3468059	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556133047	chr4:3468059-3468060	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2344205	chr4:3468070-3468071	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368249369	chr4:3468115-3468116	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs567485042	chr4:3468133-3468134	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529913702	chr4:3468156-3468157	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs546533549	chr4:3468202-3468203	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs566122319	chr4:3468222-3468223	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs538206135	chr4:3468231-3468232	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs150412140	chr4:3468250-3468251	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs73079098	chr4:3468288-3468289	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537962528	chr4:3468312-3468313	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs554849578	chr4:3468342-3468343	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs575114556	chr4:3468361-3468362	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs540928495	chr4:3468395-3468396	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs187376855	chr4:3468417-3468418	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs554548809	chr4:3468419-3468420	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs13103813	chr4:3468436-3468437	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs58996039	chr4:3468442-3468443	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562914187	chr4:3468490-3468491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs531694024	chr4:3468563-3468564	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs138201151	chr4:3468564-3468565	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs560742826	chr4:3468583-3468584	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs142894021	chr4:3468597-3468598	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs529878830	chr4:3468614-3468615	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs578057605	chr4:3468615-3468616	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs114802548	chr4:3468669-3468670	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs559967913	chr4:3468675-3468676	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs554113210	chr4:3468692-3468693	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs199919196	chr4:3468701-3468702	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs551854300	chr4:3468719-3468720	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568871043	chr4:3468806-3468807	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs537522386	chr4:3468815-3468816	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs552777004	chr4:3468816-3468817	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs548312795	chr4:3468819-3468820	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs568662944	chr4:3468830-3468831	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs534351780	chr4:3468835-3468836	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs56365947	chr4:3468883-3468884	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577587231	chr4:3468886-3468887	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3464800-3468600	Active TSS	HSMMtube	muscle
2	chr4:3465200-3468400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:3465800-3470000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:3466000-3468200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
5	chr4:3466200-3469200	Weak transcription	Gastric	stomach
6	chr4:3466400-3468000	Weak transcription	Psoas Muscle	Psoas
7	chr4:3466400-3468200	Enhancers	Pancreas	Pancrea
8	chr4:3466400-3468800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:3466400-3482400	Weak transcription	Right Atrium	heart
10	chr4:3466800-3469200	Active TSS	HSMM	muscle
11	chr4:3467000-3468000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:3467000-3468400	Enhancers	Left Ventricle	heart
13	chr4:3467000-3469600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr4:3467000-3493600	Weak transcription	Aorta	Aorta
15	chr4:3467200-3469600	Enhancers	Fetal Heart	heart
16	chr4:3467200-3470400	Enhancers	Fetal Muscle Leg	muscle
17	chr4:3467600-3468000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:3467600-3468200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:3467600-3468800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:3467600-3469400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:3467600-3473000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:3467800-3468000	Flanking Active TSS	Right Ventricle	heart
23	chr4:3468000-3468200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:3468000-3468200	Bivalent Enhancer	Colonic Mucosa	Colon
25	chr4:3468000-3468200	Active TSS	Right Ventricle	heart
26	chr4:3468000-3468200	Flanking Bivalent TSS/Enh	HepG2	liver
27	chr4:3468000-3468800	Enhancers	Psoas Muscle	Psoas
28	chr4:3468000-3468800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr4:3468200-3468400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr4:3468200-3468800	Flanking Active TSS	Right Ventricle	heart
31	chr4:3468200-3469000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr4:3468200-3469800	Weak transcription	Pancreas	Pancrea
33	chr4:3468400-3468600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
34	chr4:3468400-3468600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr4:3468400-3468600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:3468400-3468600	Flanking Active TSS	Left Ventricle	heart
37	chr4:3468400-3468600	Active TSS	Spleen	Spleen
38	chr4:3468400-3469000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:3468400-3469400	Enhancers	Ovary	ovary
40	chr4:3468600-3469000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:3468600-3469800	Enhancers	Left Ventricle	heart
42	chr4:3468600-3470400	Weak transcription	Spleen	Spleen
43	chr4:3468600-3478400	Weak transcription	HSMMtube	muscle
44	chr4:3468800-3469200	Active TSS	Right Ventricle	heart
45	chr4:3468800-3469200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr4:3468800-3475000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:3468800-3486400	Weak transcription	Psoas Muscle	Psoas
48	chr4:3469000-3469200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr4:3469000-3470800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:3469200-3469400	Enhancers	Gastric	stomach

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