Variant report

Variant	rs58321192
Chromosome Location	chr2:98291735-98291736
allele	A/C
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	STAT3	chr2:98291587-98291892	GM12878	blood:	n/a	chr2:98291616-98291627

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98279912..98282586-chr2:98290130..98292098,3	K562	blood:
2	chr2:98261015..98264268-chr2:98289158..98291782,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZAP70-2	chr2:98289635-98292184	NONHSAT072675

Variant related genes	Relation type
LINC01125	TF binding region
ENSG00000115073	Chromatin interaction
ENSG00000228486	Chromatin interaction
ENSG00000201806	Chromatin interaction
ENSG00000135940	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17028771	0.94[ASN][1000 genomes]
rs17695937	0.89[ASN][1000 genomes]
rs2071038	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290123	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290126	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290127	0.94[ASN][1000 genomes]
rs34459720	0.94[ASN][1000 genomes]
rs35321033	0.94[ASN][1000 genomes]
rs35530168	0.94[ASN][1000 genomes]
rs55757705	0.94[ASN][1000 genomes]
rs55766309	0.94[ASN][1000 genomes]
rs55933640	0.94[ASN][1000 genomes]
rs56035334	0.94[ASN][1000 genomes]
rs56233535	0.94[ASN][1000 genomes]
rs56717024	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58383658	0.91[ASN][1000 genomes]
rs59021370	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59060391	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59168350	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60226695	1.00[EUR][1000 genomes]
rs62157581	0.94[ASN][1000 genomes]
rs6542982	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6753752	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72951131	1.00[ASN][1000 genomes]
rs7425883	0.94[ASN][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	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3451326	chr2:98289174-98304076	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98281000-98323800	Weak transcription	Gastric	stomach
2	chr2:98281400-98295200	Weak transcription	Esophagus	oesophagus
3	chr2:98281600-98292000	Weak transcription	Adipose Nuclei	Adipose
4	chr2:98281600-98292800	Weak transcription	HSMM	muscle
5	chr2:98281600-98293200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:98281600-98294800	Weak transcription	Brain Anterior Caudate	brain
7	chr2:98281600-98295400	Weak transcription	Right Ventricle	heart
8	chr2:98281600-98298800	Weak transcription	Aorta	Aorta
9	chr2:98281800-98293800	Weak transcription	Brain Angular Gyrus	brain
10	chr2:98281800-98296200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:98281800-98296200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:98282000-98292000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:98282000-98293800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:98285600-98292200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:98286200-98292000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:98288600-98293600	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:98289200-98292000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:98289400-98292200	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:98289800-98293600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:98290400-98293400	Weak transcription	Pancreas	Pancrea
21	chr2:98290400-98294600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:98290800-98291800	Enhancers	Fetal Kidney	kidney
23	chr2:98291000-98291800	Enhancers	K562	blood
24	chr2:98291000-98292000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:98291200-98292400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:98291200-98292600	Enhancers	Fetal Brain Female	brain
27	chr2:98291200-98293400	Weak transcription	Fetal Heart	heart
28	chr2:98291600-98292600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:98291600-98292800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:98291600-98293000	Weak transcription	GM12878-XiMat	blood
31	chr2:98291600-98298800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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