Variant report

Variant	rs1718855
Chromosome Location	chr4:57934331-57934332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr4:57934173-57934985	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
UBE2CP3	TF binding region
IGFBP7	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10516163	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1277291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1277292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1277293	0.80[JPT][hapmap]
rs13117875	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13141016	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1614526	0.90[JPT][hapmap]
rs1714019	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1714021	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1714022	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1718843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718854	0.80[JPT][hapmap]
rs1718856	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1718870	0.82[ASN][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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:57923800-57937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:57927000-57937400	Weak transcription	Small Intestine	intestine
5	chr4:57929600-57944400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:57930800-57937400	Weak transcription	Fetal Kidney	kidney
7	chr4:57931200-57936000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:57931200-57936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:57931200-57937000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:57931600-57940600	Weak transcription	Hela-S3	cervix
11	chr4:57931800-57938800	Weak transcription	Pancreas	Pancrea
12	chr4:57932000-57935800	Strong transcription	NHEK	skin
13	chr4:57932200-57934600	Weak transcription	Fetal Lung	lung
14	chr4:57932200-57935200	Weak transcription	Aorta	Aorta
15	chr4:57932200-57935200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:57932200-57935200	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:57932200-57935400	Weak transcription	Lung	lung
18	chr4:57932400-57934600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:57932400-57935000	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:57932400-57935200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:57932400-57935800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:57932400-57936000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:57932400-57936800	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:57932400-57945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
26	chr4:57932600-57934600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:57932600-57934600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:57932600-57934600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:57932600-57934600	Weak transcription	Right Atrium	heart
30	chr4:57932600-57934600	Weak transcription	HSMM	muscle
31	chr4:57932600-57934800	Weak transcription	HUVEC	blood vessel
32	chr4:57932600-57935000	Weak transcription	Psoas Muscle	Psoas
33	chr4:57932600-57935000	Weak transcription	Right Ventricle	heart
34	chr4:57932600-57935200	Weak transcription	Ovary	ovary
35	chr4:57932600-57935200	Weak transcription	Spleen	Spleen
36	chr4:57932600-57936000	Enhancers	A549	lung
37	chr4:57932600-57936600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:57932600-57936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:57932600-57936800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:57932600-57937200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:57932600-57937200	Weak transcription	Adipose Nuclei	Adipose
42	chr4:57932600-57937200	Weak transcription	Fetal Intestine Large	intestine
43	chr4:57932600-57937600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:57932600-57944000	Weak transcription	Fetal Stomach	stomach
45	chr4:57932800-57934400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:57932800-57934400	Weak transcription	NHDF-Ad	bronchial
47	chr4:57932800-57936600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:57933000-57934400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:57933200-57934600	Strong transcription	HMEC	breast
50	chr4:57933400-57934400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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