Variant report

Variant	esv2354094
Chromosome Location	chr4:783535-784052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:782997..785390-chr4:814047..817037,2	K562	blood:
2	chr4:782759..784380-chr4:786772..789323,2	K562	blood:
3	chr1:166940001..166941556-chr4:781082..783860,2	MCF-7	breast:
4	chr4:781773..783952-chr4:990390..991968,2	MCF-7	breast:
5	chr4:783386..786310-chr4:800890..802514,2	K562	blood:
6	chr4:783843..786416-chr4:924435..926817,2	MCF-7	breast:
7	chr4:782165..784382-chr4:833187..836148,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127419	chromatin interactions
ENSG00000178950	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531077455	chr4:783585-783586	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs569615683	chr4:783617-783618	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs13130087	chr4:783628-783629	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs114687359	chr4:783639-783640	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs551879869	chr4:783685-783686	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs372699728	chr4:783693-783694	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs547163139	chr4:783707-783708	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs13109106	chr4:783732-783733	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs13109107	chr4:783736-783737	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs13115604	chr4:783746-783747	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs575519797	chr4:783777-783778	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs536108388	chr4:783785-783786	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs554149550	chr4:783803-783804	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572545064	chr4:783810-783811	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539837631	chr4:783813-783814	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181616868	chr4:783814-783815	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576848314	chr4:783824-783825	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185555258	chr4:783838-783839	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563702371	chr4:783846-783847	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs116578450	chr4:783847-783848	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs114135275	chr4:783853-783854	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
22	rs368633635	chr4:783869-783870	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs528525030	chr4:783873-783874	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs575746639	chr4:783879-783880	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547003798	chr4:783886-783887	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs34525414	chr4:783890-783891	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs148598105	chr4:783903-783904	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528365604	chr4:783917-783918	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs550757624	chr4:783923-783924	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs577069440	chr4:783929-783930	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs568916578	chr4:783955-783956	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs13109607	chr4:783962-783963	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs13116062	chr4:783969-783970	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs75076898	chr4:783986-783987	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs540336030	chr4:784009-784010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs13151015	chr4:784027-784028	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:64)

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
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:778600-784800	Bivalent Enhancer	Fetal Thymus	thymus
2	chr4:780400-784800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr4:780800-788800	Weak transcription	Right Atrium	heart
4	chr4:781000-786000	Weak transcription	Pancreas	Pancrea
5	chr4:781200-784600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:781400-783600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
7	chr4:781400-783600	Enhancers	Spleen	Spleen
8	chr4:781800-785600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:782000-786000	Weak transcription	GM12878-XiMat	blood
10	chr4:782400-783600	Enhancers	Esophagus	oesophagus
11	chr4:782400-783600	Bivalent Enhancer	Fetal Intestine Large	intestine
12	chr4:782400-783800	Enhancers	Gastric	stomach
13	chr4:782400-784200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:782600-784000	Enhancers	Placenta	Placenta
15	chr4:782600-784600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
16	chr4:782600-786600	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr4:782800-783800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:782800-783800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
19	chr4:782800-784800	Enhancers	Liver	Liver
20	chr4:783000-786600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:783200-783600	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr4:783200-784600	Bivalent Enhancer	Fetal Intestine Small	intestine
23	chr4:783400-783600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:783400-783600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:783400-783600	Bivalent Enhancer	Thymus	Thymus
26	chr4:783400-784000	Enhancers	Stomach Mucosa	stomach
27	chr4:783600-784000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:783800-784000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:783800-784600	Bivalent Enhancer	Colonic Mucosa	Colon
30	chr4:783800-784600	Bivalent Enhancer	Fetal Intestine Large	intestine
31	chr4:783800-785800	Weak transcription	Gastric	stomach
32	chr4:784000-784200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:784000-784200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:784000-784200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:784000-789800	Bivalent Enhancer	Placenta	Placenta

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