Variant report

Variant	rs542322943
Chromosome Location	chr3:52832580-52832581
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:52832560-52832710	GM12868	blood:	n/a	n/a
2	CTCF	chr3:52832540-52832690	HL-60	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

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	chr3:52819022..52821940-chr3:52830532..52832899,2	K562	blood:
4	chr3:52831117..52833454-chr3:52835406..52839409,3	K562	blood:
5	chr3:52831402..52833454-chr3:52836536..52839409,2	K562	blood:
6	chr3:52719608..52722839-chr3:52830545..52833712,3	K562	blood:

No data

Variant related genes	Relation type
ITIH3	TF binding region
ENSG00000162267	Chromatin interaction
ENSG00000163938	Chromatin interaction
ENSG00000114904	Chromatin interaction
ENSG00000055957	Chromatin interaction
ENSG00000163939	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52824000-52832800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:52825800-52836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:52828200-52835800	Weak transcription	HSMMtube	muscle
4	chr3:52828600-52832600	Weak transcription	Stomach Mucosa	stomach
5	chr3:52829000-52834200	Weak transcription	Brain Substantia Nigra	brain
6	chr3:52830200-52833200	Weak transcription	Fetal Thymus	thymus
7	chr3:52830400-52832600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:52830400-52834000	Genic enhancers	HepG2	liver
9	chr3:52830400-52836400	Weak transcription	Pancreas	Pancrea
10	chr3:52830800-52835000	Genic enhancers	Liver	Liver
11	chr3:52832000-52833000	Enhancers	Spleen	Spleen
12	chr3:52832000-52833000	Enhancers	HSMM	muscle
13	chr3:52832000-52833600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:52832200-52832800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:52832200-52832800	Enhancers	Fetal Stomach	stomach
16	chr3:52832200-52833200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:52832400-52832600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:52832400-52832600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:52832400-52833000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:52832400-52833000	Enhancers	Placenta	Placenta
21	chr3:52832400-52833200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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