Variant report

Variant	esv3448240
Chromosome Location	chr4:1086671-1086915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1085294..1087604-chr4:1093899..1095690,2	K562	blood:
2	chr4:1086221..1088731-chr4:1090765..1092594,2	MCF-7	breast:
3	chr4:1074111..1076189-chr4:1085996..1088070,2	K562	blood:

Variant related genes	Relation type
ENSG00000178222	chromatin interactions
ENSG00000251639	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373317673	chr4:1086680-1086681	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs606327	chr4:1086702-1086703	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs629638	chr4:1086714-1086715	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs571439031	chr4:1086748-1086749	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs538837838	chr4:1086754-1086755	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs367719640	chr4:1086763-1086764	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs629260	chr4:1086764-1086765	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs535993744	chr4:1086772-1086773	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs76423765	chr4:1086777-1086778	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs144160971	chr4:1086778-1086779	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554534153	chr4:1086802-1086803	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs369995204	chr4:1086827-1086828	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs572765786	chr4:1086839-1086840	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs534959965	chr4:1086863-1086864	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs11939380	chr4:1086871-1086872	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:66)

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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Breast cancer	20932292	CNVD
Cancer	20164919	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1084200-1093400	Weak transcription	Ovary	ovary
2	chr4:1085000-1088400	Weak transcription	Spleen	Spleen
3	chr4:1085800-1088200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr4:1086000-1087000	Enhancers	Liver	Liver
5	chr4:1086000-1087600	Strong transcription	Pancreas	Pancrea
6	chr4:1086000-1098400	Weak transcription	Lung	lung
7	chr4:1086200-1091400	Weak transcription	Gastric	stomach
8	chr4:1086200-1098600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:1086600-1087000	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:1086600-1087800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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