Variant report

Variant	rs1713977
Chromosome Location	chr4:57944432-57944433
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57943158..57945422-chr4:57946459..57948764,2	K562	blood:
2	chr4:57944252..57946823-chr4:57975911..57977962,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163453	Chromatin interaction
ENSG00000245067	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10009533	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1713976	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1713979	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1713981	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1714010	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1714011	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1714012	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1718844	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1718846	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1718847	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9997862	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57932400-57945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
3	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:57934600-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:57935800-57945000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:57935800-57948000	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:57936200-57945000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:57937400-57948000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:57937800-57945000	Weak transcription	Brain Anterior Caudate	brain
10	chr4:57937800-57946800	Weak transcription	Adipose Nuclei	Adipose
11	chr4:57938000-57945600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:57938000-57955800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:57938800-57947000	Weak transcription	Esophagus	oesophagus
14	chr4:57939800-57949800	Enhancers	HMEC	breast
15	chr4:57940000-57946200	Weak transcription	Lung	lung
16	chr4:57941200-57944800	Weak transcription	Ovary	ovary
17	chr4:57941200-57945000	Weak transcription	Small Intestine	intestine
18	chr4:57941400-57947000	Weak transcription	Brain Substantia Nigra	brain
19	chr4:57941800-57944600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:57941800-57945000	Weak transcription	Fetal Intestine Large	intestine
21	chr4:57942000-57945200	Weak transcription	Hela-S3	cervix
22	chr4:57942000-57947000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:57942000-57947800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:57942200-57945000	Weak transcription	NHDF-Ad	bronchial
25	chr4:57942200-57946600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:57942400-57945000	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:57942600-57945600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:57942800-57944800	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:57942800-57945000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:57942800-57947000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:57942800-57947000	Enhancers	HUVEC	blood vessel
32	chr4:57942800-57960400	Weak transcription	Psoas Muscle	Psoas
33	chr4:57943000-57944600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:57943000-57944800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:57943000-57945000	Enhancers	NHEK	skin
36	chr4:57943200-57950000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:57943400-57944600	Enhancers	Left Ventricle	heart
38	chr4:57943600-57945800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:57943600-57946000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:57943800-57944600	Enhancers	Fetal Heart	heart
41	chr4:57943800-57944600	Enhancers	Pancreas	Pancrea
42	chr4:57943800-57944600	Enhancers	Right Atrium	heart
43	chr4:57943800-57944800	Genic enhancers	Aorta	Aorta
44	chr4:57943800-57945000	Enhancers	Rectal Smooth Muscle	rectum
45	chr4:57943800-57945000	Enhancers	Stomach Smooth Muscle	stomach
46	chr4:57943800-57945000	Enhancers	NH-A	brain
47	chr4:57943800-57945200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr4:57943800-57945400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:57943800-57945800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:57943800-57946800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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