Variant report

Variant	rs2168442
Chromosome Location	chr3:46919379-46919380
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	CTCF	chr3:46919340-46919490	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:46917376..46920621-chr3:46922888..46926605,5	K562	blood:
2	chr3:46919067..46921668-chr3:46922191..46925334,3	K562	blood:
3	chr3:46917885..46923537-chr3:46925586..46931315,6	MCF-7	breast:

Variant related genes	Relation type
PTH1R	TF binding region
ENSG00000268537	Chromatin interaction
ENSG00000160808	Chromatin interaction
ENSG00000160801	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12715420	1.00[ASN][1000 genomes]
rs1473385	0.83[ASW][hapmap]
rs2233263	1.00[ASN][1000 genomes]
rs35418672	1.00[ASN][1000 genomes]
rs4683303	0.83[ASW][hapmap]
rs4683305	1.00[ASN][1000 genomes]
rs59227639	1.00[ASN][1000 genomes]
rs6784957	0.87[TSI][hapmap]
rs72895891	0.91[EUR][1000 genomes]
rs72895894	1.00[ASN][1000 genomes]
rs7624740	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv590205	chr3:46852679-46929546	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1003979	chr3:46853374-46943854	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv590206	chr3:46873957-46935527	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv876752	chr3:46879831-46967040	Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv876753	chr3:46884552-46957298	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv876754	chr3:46884552-46967040	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv590207	chr3:46903361-46919379	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2168442	PRSS45	cis	Thyroid	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46906800-46920000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:46912200-46921000	Enhancers	Fetal Heart	heart
3	chr3:46913600-46920200	Weak transcription	Pancreas	Pancrea
4	chr3:46914400-46921400	Enhancers	Fetal Intestine Large	intestine
5	chr3:46914600-46919600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:46915400-46921600	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:46915800-46923000	Weak transcription	Brain Anterior Caudate	brain
8	chr3:46916000-46921600	Enhancers	Fetal Intestine Small	intestine
9	chr3:46916000-46922400	Weak transcription	Adipose Nuclei	Adipose
10	chr3:46916400-46920200	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:46916600-46920000	Weak transcription	Right Atrium	heart
12	chr3:46916600-46920200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:46916800-46920200	Weak transcription	Lung	lung
14	chr3:46916800-46921000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:46917000-46920000	Weak transcription	Left Ventricle	heart
16	chr3:46917000-46922000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr3:46917000-46922800	Weak transcription	Ovary	ovary
18	chr3:46917200-46920200	Weak transcription	Right Ventricle	heart
19	chr3:46917200-46922800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:46917800-46920000	Weak transcription	Spleen	Spleen
21	chr3:46917800-46921000	Enhancers	HSMM	muscle
22	chr3:46917800-46922600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr3:46918000-46920200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:46918000-46920800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:46918000-46921000	Enhancers	HSMMtube	muscle
26	chr3:46918000-46922400	Enhancers	Placenta	Placenta
27	chr3:46918200-46920400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:46918400-46920800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr3:46918600-46919600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:46918600-46920200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:46918600-46921000	Enhancers	Fetal Lung	lung
32	chr3:46918800-46919800	Weak transcription	Fetal Kidney	kidney
33	chr3:46918800-46920800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:46918800-46920800	Enhancers	Stomach Smooth Muscle	stomach
35	chr3:46919200-46919800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
36	chr3:46919200-46920200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:46919200-46920200	Bivalent Enhancer	HepG2	liver
38	chr3:46919200-46922200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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