Variant report

Variant	rs373638980
Chromosome Location	chr3:52833019-52833020
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	CTCF	chr3:52832940-52833090	AG09309	skin:	n/a	n/a
2	RAD21	chr3:52833001-52833471	H1-hESC	embryonic stem cell:	n/a	chr3:52833254-52833273
3	FOS	chr3:52832977-52833302	MCF10A-Er-Src	breast:	n/a	n/a
4	CTCF	chr3:52832927-52833041	GM12892	blood:	n/a	n/a
5	FOS	chr3:52833010-52833289	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr3:52832715-52833078	HepG2	liver:	n/a	n/a
7	CTCF	chr3:52832973-52833564	SK-N-SH	brain:	n/a	chr3:52833256-52833274
8	FOS	chr3:52832974-52833273	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr3:52832882-52833040	GM19240	blood:	n/a	n/a
10	CTCF	chr3:52832940-52833090	NHEK	skin:	n/a	n/a
11	RAD21	chr3:52832970-52833526	H1-hESC	embryonic stem cell:	n/a	chr3:52833254-52833273
12	RAD21	chr3:52833010-52833506	ECC-1	luminal epithelium:	n/a	chr3:52833254-52833273
13	POLR2A	chr3:52832743-52833470	HepG2	liver:	n/a	n/a
14	STAT3	chr3:52832929-52833126	MCF10A-Er-Src	breast:	n/a	n/a
15	CTCF	chr3:52832988-52833526	K562	blood:	n/a	chr3:52833256-52833274
16	POLR2A	chr3:52832930-52833449	HepG2	liver:	n/a	n/a
17	CTCF	chr3:52832886-52833034	GM12891	blood:	n/a	n/a
18	CTCF	chr3:52832955-52833526	HCT-116	colon:	n/a	chr3:52833256-52833274
19	MYC	chr3:52832980-52833273	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr3:52832968-52833266	MCF10A-Er-Src	breast:	n/a	n/a
21	CTCF	chr3:52832921-52833035	GM19239	blood:	n/a	n/a
22	RAD21	chr3:52832987-52833503	HCT-116	colon:	n/a	chr3:52833254-52833273
23	CTCF	chr3:52832978-52833786	A549	lung:	n/a	chr3:52833256-52833274

No.	Distal block	Cell Line	Cell type
1	chr3:52831758..52833558-chr3:52833637..52835171,2	K562	blood:
2	chr3:52803280..52805303-chr3:52832255..52833885,2	MCF-7	breast:
3	chr3:52831117..52833454-chr3:52835406..52839409,3	K562	blood:
4	chr3:52831402..52833454-chr3:52836536..52839409,2	K562	blood:
5	chr3:52719608..52722839-chr3:52830545..52833712,3	K562	blood:

Variant related genes	Relation type
ITIH3	TF binding region
ENSG00000163939	Chromatin interaction
ENSG00000114904	Chromatin interaction
ENSG00000163938	Chromatin interaction
ENSG00000162267	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv834698	chr3:52749983-52928219	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	esv2762328	chr3:52774884-53002150	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1010761	chr3:52804547-52851258	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv1810629	chr3:52817031-52869635	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv876797	chr3:52817675-52873984	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv3452194	chr3:52832512-52836010	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52825800-52836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:52828200-52835800	Weak transcription	HSMMtube	muscle
3	chr3:52829000-52834200	Weak transcription	Brain Substantia Nigra	brain
4	chr3:52830200-52833200	Weak transcription	Fetal Thymus	thymus
5	chr3:52830400-52834000	Genic enhancers	HepG2	liver
6	chr3:52830400-52836400	Weak transcription	Pancreas	Pancrea
7	chr3:52830800-52835000	Genic enhancers	Liver	Liver
8	chr3:52832000-52833600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr3:52832200-52833200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:52832400-52833200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:52832600-52833200	Enhancers	Stomach Mucosa	stomach
12	chr3:52832600-52833200	Enhancers	HMEC	breast
13	chr3:52832800-52833600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:52833000-52833200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:52833000-52833800	Weak transcription	Right Ventricle	heart
16	chr3:52833000-52833800	Weak transcription	Spleen	Spleen
17	chr3:52833000-52836200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:52833000-52836400	Weak transcription	HSMM	muscle

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