Variant report

Variant	rs58224130
Chromosome Location	chr3:119363999-119364000
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	MAFK	chr3:119363859-119364092	IMR90	lung:	n/a	chr3:119363992-119364003 chr3:119363987-119364002 chr3:119363987-119364003
2	MAFK	chr3:119363867-119364108	HepG2	liver:	n/a	chr3:119363992-119364003 chr3:119363987-119364002 chr3:119363987-119364003
3	MAFF	chr3:119363870-119364100	HepG2	liver:	n/a	chr3:119363986-119364004
4	MAFK	chr3:119363825-119364152	HepG2	liver:	n/a	chr3:119363992-119364003 chr3:119363987-119364002 chr3:119363987-119364003

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119361516..119364108-chr3:119364269..119367239,2	K562	blood:
2	chr3:119363598..119365543-chr3:119365969..119367975,2	MCF-7	breast:

Variant related genes	Relation type
POPDC2	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11921247	1.00[AMR][1000 genomes]
rs13072068	1.00[EUR][1000 genomes]
rs16830079	1.00[AMR][1000 genomes]
rs16830095	1.00[AMR][1000 genomes]
rs16830098	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2140360	0.80[AFR][1000 genomes]
rs2629401	1.00[EUR][1000 genomes]
rs2688632	1.00[EUR][1000 genomes]
rs2688645	1.00[EUR][1000 genomes]
rs4441692	1.00[EUR][1000 genomes]
rs493590	1.00[EUR][1000 genomes]
rs57035409	1.00[EUR][1000 genomes]
rs7652677	1.00[EUR][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1014394	chr3:119360506-119412275	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119341400-119364600	Weak transcription	Liver	Liver
2	chr3:119349800-119378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:119352000-119378600	Weak transcription	Thymus	Thymus
4	chr3:119352600-119367000	Weak transcription	Ovary	ovary
5	chr3:119354000-119387600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:119356200-119389000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:119356800-119364800	Weak transcription	Stomach Mucosa	stomach
8	chr3:119356800-119390000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:119356800-119391800	Weak transcription	Brain Substantia Nigra	brain
10	chr3:119356800-119391800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:119357200-119383800	Weak transcription	Primary B cells from cord blood	blood
12	chr3:119357800-119366600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr3:119357800-119367000	Weak transcription	Fetal Intestine Large	intestine
14	chr3:119357800-119386400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:119358000-119371200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr3:119358000-119390600	Weak transcription	Brain Anterior Caudate	brain
17	chr3:119358000-119391800	Weak transcription	Colonic Mucosa	Colon
18	chr3:119358200-119366200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:119358200-119372600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:119358400-119366800	Weak transcription	Esophagus	oesophagus
21	chr3:119358400-119367000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:119358400-119376600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:119358600-119365200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:119358600-119366600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr3:119358600-119371600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr3:119358600-119372400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:119358600-119376800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr3:119360400-119366600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:119360600-119365400	Weak transcription	Colon Smooth Muscle	Colon
30	chr3:119360800-119367800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:119361200-119365800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr3:119361200-119366800	Weak transcription	Pancreas	Pancrea
33	chr3:119361200-119367000	Weak transcription	Gastric	stomach
34	chr3:119361200-119369000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:119361200-119378800	Weak transcription	Fetal Thymus	thymus
36	chr3:119361200-119394400	Weak transcription	Brain Angular Gyrus	brain
37	chr3:119361400-119366200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr3:119361400-119366200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:119361400-119366800	Weak transcription	Spleen	Spleen
40	chr3:119361400-119372600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr3:119361400-119378800	Weak transcription	Brain Hippocampus Middle	brain
42	chr3:119361600-119365600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:119361600-119366800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr3:119362000-119364800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:119362000-119366200	Weak transcription	Fetal Intestine Small	intestine
46	chr3:119362000-119366600	Weak transcription	Fetal Stomach	stomach
47	chr3:119362000-119366800	Weak transcription	GM12878-XiMat	blood
48	chr3:119362200-119364000	Strong transcription	Left Ventricle	heart
49	chr3:119362200-119365400	Weak transcription	Adipose Nuclei	Adipose
50	chr3:119362200-119365800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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