Variant report

Variant	rs534092040
Chromosome Location	chr3:46922563-46922564
allele	A/G
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	SUZ12	chr3:46921801-46922674	H1-hESC	embryonic stem cell:	n/a	n/a
2	RCOR1	chr3:46922436-46922597	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:46919067..46921668-chr3:46922191..46925334,3	K562	blood:
2	chr3:46917885..46923537-chr3:46925586..46931315,6	MCF-7	breast:
3	chr3:46921853..46924302-chr3:46929528..46931190,2	K562	blood:

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

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

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	esv3438687	chr3:46922473-46925321	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46915800-46923000	Weak transcription	Brain Anterior Caudate	brain
2	chr3:46917000-46922800	Weak transcription	Ovary	ovary
3	chr3:46917200-46922800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:46917800-46922600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr3:46920400-46923800	Weak transcription	Liver	Liver
6	chr3:46920600-46922600	Weak transcription	Pancreas	Pancrea
7	chr3:46920800-46922600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:46920800-46922600	Weak transcription	Left Ventricle	heart
9	chr3:46921000-46922800	Weak transcription	Right Ventricle	heart
10	chr3:46921000-46923200	Weak transcription	HSMM	muscle
11	chr3:46921000-46923200	Weak transcription	HSMMtube	muscle
12	chr3:46921200-46923200	Weak transcription	A549	lung
13	chr3:46921600-46922600	Bivalent Enhancer	Fetal Intestine Small	intestine
14	chr3:46921800-46922600	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:46922200-46922600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
16	chr3:46922200-46922600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr3:46922200-46922800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:46922400-46922600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr3:46922400-46922600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr3:46922400-46922600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:46922400-46922600	Enhancers	Adipose Nuclei	Adipose
22	chr3:46922400-46922600	Bivalent Enhancer	Placenta	Placenta
23	chr3:46922400-46922600	Flanking Active TSS	Spleen	Spleen
24	chr3:46922400-46922800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:46922400-46922800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr3:46922400-46922800	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr3:46922400-46922800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
28	chr3:46922400-46923000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:46922400-46923000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr3:46922400-46923000	Active TSS	Right Atrium	heart
31	chr3:46922400-46923200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
32	chr3:46922400-46924000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:46922400-46925000	Active TSS	Fetal Kidney	kidney
34	chr3:46922400-46925400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum

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