Variant report

Variant	rs4870858
Chromosome Location	chr8:124600993-124600994
allele	G/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	RCOR1	chr8:124600984-124602517	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
RN7SKP155	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10089696	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10091164	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10102942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776999	0.97[ASN][1000 genomes]
rs12547165	0.98[ASN][1000 genomes]
rs12547541	0.97[ASN][1000 genomes]
rs13250678	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251106	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs13252512	0.88[ASN][1000 genomes]
rs13256524	0.84[EUR][1000 genomes]
rs13261294	0.88[ASN][1000 genomes]
rs13264867	0.84[EUR][1000 genomes]
rs13266630	0.84[EUR][1000 genomes]
rs13273000	0.88[ASN][1000 genomes]
rs2385450	0.84[AMR][1000 genomes]
rs4388446	0.82[CEU][hapmap]
rs4515533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870857	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4870858	PSG2	trans	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124598400-124602200	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:124598600-124601400	Enhancers	Aorta	Aorta
3	chr8:124598800-124601400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:124599000-124602000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:124599200-124601400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:124599200-124601400	Weak transcription	NHDF-Ad	bronchial
7	chr8:124599200-124602400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:124599200-124604400	Weak transcription	HSMMtube	muscle
9	chr8:124599400-124601200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:124599400-124601200	Weak transcription	HMEC	breast
11	chr8:124599400-124601200	Weak transcription	NH-A	brain
12	chr8:124599400-124601400	Weak transcription	Osteobl	bone
13	chr8:124599400-124604400	Weak transcription	HSMM	muscle
14	chr8:124599400-124604600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:124599400-124604800	Enhancers	Stomach Smooth Muscle	stomach
16	chr8:124599400-124605000	Enhancers	Colon Smooth Muscle	Colon
17	chr8:124599600-124601800	Enhancers	Pancreas	Pancrea
18	chr8:124599600-124606200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:124600200-124602400	Enhancers	Right Atrium	heart
20	chr8:124600400-124602000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:124600400-124602200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:124600400-124602200	Weak transcription	Left Ventricle	heart
23	chr8:124600400-124604400	Weak transcription	Psoas Muscle	Psoas
24	chr8:124600400-124604600	Weak transcription	Adipose Nuclei	Adipose
25	chr8:124600600-124602000	Weak transcription	Fetal Heart	heart
26	chr8:124600600-124602400	Enhancers	Right Ventricle	heart
27	chr8:124600800-124601200	Weak transcription	NHLF	lung
28	chr8:124600800-124602200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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