Variant report

Variant	rs2174952
Chromosome Location	chr1:92083611-92083612
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92080971..92083813-chr1:92083912..92086157,2	K562	blood:
2	chr1:92081027..92084138-chr1:92090096..92093775,3	K562	blood:
3	chr1:92082754..92083639-chr1:92392516..92393512,4	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1041161	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165087	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744011	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35370265	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4650270	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4658247	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs977119	1.00[ASN][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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2174952	TGFBR3	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92068200-92083800	Weak transcription	Fetal Lung	lung
2	chr1:92075800-92088200	Weak transcription	Right Atrium	heart
3	chr1:92078000-92088200	Weak transcription	Ovary	ovary
4	chr1:92080000-92085000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:92080000-92085000	Weak transcription	NHDF-Ad	bronchial
6	chr1:92080000-92085200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:92080000-92087600	Weak transcription	Fetal Heart	heart
8	chr1:92082600-92083800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:92082600-92083800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:92082800-92084000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:92082800-92084000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:92082800-92084200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr1:92082800-92084200	Enhancers	Psoas Muscle	Psoas
14	chr1:92083000-92083800	Enhancers	HepG2	liver
15	chr1:92083000-92084600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:92083000-92085400	Enhancers	Fetal Muscle Leg	muscle
17	chr1:92083000-92087600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:92083200-92084000	Enhancers	Colonic Mucosa	Colon
19	chr1:92083200-92084000	Enhancers	Colon Smooth Muscle	Colon
20	chr1:92083200-92084000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:92083400-92088600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:92083400-92088600	Weak transcription	Left Ventricle	heart
23	chr1:92083600-92084000	Enhancers	Adipose Nuclei	Adipose
24	chr1:92083600-92084600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:92083600-92084600	Weak transcription	Fetal Muscle Trunk	muscle

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