Variant report

Variant	rs73839179
Chromosome Location	chr3:52806576-52806577
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52804965..52807932-chr3:52819198..52822291,3	K562	blood:
2	chr3:52804965..52807719-chr3:52819198..52820979,2	K562	blood:
3	chr3:52719292..52721392-chr3:52805038..52806656,2	K562	blood:
4	chr3:52802780..52807602-chr3:52827391..52831755,5	K562	blood:
5	chr3:52766545..52769494-chr3:52804406..52806680,2	K562	blood:

Variant related genes	Relation type
ENSG00000163939	Chromatin interaction
ENSG00000162267	Chromatin interaction
ENSG00000055957	Chromatin interaction
ENSG00000163938	Chromatin interaction
ENSG00000270941	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17052401	1.00[AMR][1000 genomes]
rs55662247	1.00[AMR][1000 genomes]
rs59277755	1.00[AMR][1000 genomes]
rs6803509	1.00[AMR][1000 genomes]
rs73839121	1.00[AMR][1000 genomes]
rs73839167	1.00[AMR][1000 genomes]
rs73839182	1.00[AMR][1000 genomes]
rs73839183	1.00[AMR][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52805400-52809600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:52805600-52806600	Enhancers	Fetal Intestine Large	intestine
3	chr3:52805600-52808800	Enhancers	HepG2	liver
4	chr3:52805600-52809200	Weak transcription	Fetal Heart	heart
5	chr3:52805600-52809600	Weak transcription	Thymus	Thymus
6	chr3:52805600-52825800	Weak transcription	Right Ventricle	heart
7	chr3:52805800-52806600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:52805800-52807400	Genic enhancers	Liver	Liver
9	chr3:52805800-52808600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:52805800-52808600	Weak transcription	Fetal Intestine Small	intestine
11	chr3:52805800-52809000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:52805800-52809000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:52805800-52809200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:52805800-52809200	Weak transcription	Fetal Thymus	thymus
15	chr3:52805800-52809400	Weak transcription	K562	blood
16	chr3:52805800-52810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:52805800-52812000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:52806000-52806800	Enhancers	Hela-S3	cervix
19	chr3:52806000-52807000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:52806000-52808600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr3:52806000-52808800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr3:52806000-52809000	Weak transcription	Stomach Mucosa	stomach
23	chr3:52806000-52809200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:52806000-52810000	Weak transcription	Pancreas	Pancrea
25	chr3:52806000-52811600	Weak transcription	Adipose Nuclei	Adipose

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