Variant report

Variant	rs28701532
Chromosome Location	chr4:7857032-7857033
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28422989	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28533862	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28653117	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28658400	0.81[EUR][1000 genomes]
rs2891925	1.00[ASN][1000 genomes]
rs4358402	0.85[EUR][1000 genomes]
rs60118949	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846235	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088575	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
2	chr4:7830400-7862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:7830600-7857200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:7830600-7862200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:7830600-7862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:7843600-7863000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:7845000-7858600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:7845000-7863200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:7845200-7859000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:7846200-7860200	Weak transcription	Small Intestine	intestine
11	chr4:7846400-7857200	Weak transcription	Left Ventricle	heart
12	chr4:7846800-7858400	Weak transcription	Fetal Heart	heart
13	chr4:7847600-7858400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:7848000-7857400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:7848000-7857400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:7848000-7872200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:7848200-7862000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:7848400-7858200	Weak transcription	Fetal Brain Male	brain
19	chr4:7849400-7857600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:7850000-7857800	Strong transcription	Fetal Intestine Small	intestine
21	chr4:7850400-7857800	Strong transcription	Fetal Intestine Large	intestine
22	chr4:7850400-7858400	Weak transcription	Right Ventricle	heart
23	chr4:7850600-7857400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:7850800-7857400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:7851200-7857400	Strong transcription	NHLF	lung
26	chr4:7851400-7857400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:7851600-7857200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:7851800-7860400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr4:7852000-7860400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:7852200-7857200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr4:7852200-7857200	Strong transcription	Placenta	Placenta
32	chr4:7852200-7857800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:7852400-7857200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:7852400-7857400	Strong transcription	Ovary	ovary
35	chr4:7852400-7857800	Strong transcription	Fetal Stomach	stomach
36	chr4:7852600-7873600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr4:7853200-7857200	Strong transcription	HepG2	liver
38	chr4:7853600-7858400	Genic enhancers	NH-A	brain
39	chr4:7853800-7859200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr4:7854000-7858400	Genic enhancers	Fetal Muscle Leg	muscle
41	chr4:7854000-7858600	Genic enhancers	HSMM	muscle
42	chr4:7854000-7859000	Genic enhancers	Osteobl	bone
43	chr4:7854200-7857200	Strong transcription	NHDF-Ad	bronchial
44	chr4:7854400-7857800	Genic enhancers	Brain Germinal Matrix	brain
45	chr4:7854600-7857600	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr4:7854600-7858400	Weak transcription	Brain Angular Gyrus	brain
47	chr4:7854800-7857200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:7854800-7857200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:7854800-7857200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:7854800-7857800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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