Variant report

Variant	rs2731829
Chromosome Location	chr5:94783175-94783176
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94768113..94770869-chr5:94781811..94784172,2	K562	blood:
2	chr5:94774570..94777503-chr5:94779746..94783694,3	K562	blood:

Variant related genes	Relation type
ENSG00000225165	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12516085	0.86[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.95[ASN][1000 genomes]
rs12657120	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4639250	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv598954	chr5:94783175-94859599	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2731829	NR2F1	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94777000-94798600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:94778000-94783200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:94778000-94783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:94779000-94784800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:94780400-94810800	Weak transcription	Pancreas	Pancrea
6	chr5:94781000-94783400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:94781200-94783200	Enhancers	NHEK	skin
8	chr5:94781200-94783600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:94781200-94783600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:94781400-94783400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:94781400-94783400	Enhancers	NH-A	brain
12	chr5:94781400-94783600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:94781400-94783600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:94781400-94783600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:94781400-94783600	Enhancers	K562	blood
16	chr5:94781600-94783200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:94782000-94783400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:94782000-94810200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:94782200-94783200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:94782200-94783200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:94782200-94784200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:94782600-94784800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:94782600-94800000	Weak transcription	HMEC	breast
24	chr5:94782800-94783400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:94782800-94783400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:94782800-94783400	Enhancers	Right Atrium	heart
27	chr5:94782800-94783400	Enhancers	Stomach Mucosa	stomach
28	chr5:94782800-94783600	Enhancers	Fetal Muscle Leg	muscle
29	chr5:94782800-94783600	Enhancers	Placenta	Placenta
30	chr5:94783000-94783200	Weak transcription	HSMMtube	muscle
31	chr5:94783000-94783400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:94783000-94783400	Enhancers	Gastric	stomach
33	chr5:94783000-94783400	Enhancers	Placenta Amnion	Placenta Amnion

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