Variant report

Variant	rs3828262
Chromosome Location	chr2:10094318-10094319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10091739..10097867-chr2:10098252..10106254,13	K562	blood:
2	chr2:9937659..9941164-chr2:10094129..10096263,3	MCF-7	breast:
3	chr2:10092110..10094474-chr2:10182208..10184991,2	K562	blood:
4	chr2:10090913..10094433-chr2:10181887..10185131,5	K562	blood:
5	chr2:9932897..9935597-chr2:10092783..10094532,2	MCF-7	breast:
6	chr2:9938284..9940065-chr2:10092605..10094538,2	MCF-7	breast:
7	chr2:9983066..9987186-chr2:10091615..10095343,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115750	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000172059	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11674576	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11690988	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11883961	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11886114	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11886486	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11887890	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11889061	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11902236	0.86[ASN][1000 genomes]
rs11902932	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13401891	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867262	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16867266	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17455130	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1897164	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2003911	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2012320	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2116014	0.86[ASN][1000 genomes]
rs2116015	0.86[ASN][1000 genomes]
rs2163336	0.86[ASN][1000 genomes]
rs3791761	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3791763	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3791764	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41264205	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59345896	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66920316	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67093290	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6711126	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6716765	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6721359	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67223835	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6725087	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6739827	0.86[ASN][1000 genomes]
rs6749296	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6750565	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6750946	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72784430	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72784434	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72784441	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72784463	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs730922	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73162262	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73162264	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73913927	0.81[ASN][1000 genomes]
rs73913937	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73913938	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs891499	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10092200-10095600	Bivalent Enhancer	Fetal Lung	lung
2	chr2:10092600-10094400	Weak transcription	Pancreas	Pancrea
3	chr2:10092600-10094600	Weak transcription	Gastric	stomach
4	chr2:10092600-10104200	Weak transcription	Lung	lung
5	chr2:10092600-10112600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:10092600-10113400	Weak transcription	Left Ventricle	heart
7	chr2:10092800-10094400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:10092800-10094600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:10092800-10101000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:10092800-10101200	Weak transcription	Brain Angular Gyrus	brain
11	chr2:10092800-10110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:10093000-10094400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:10093200-10094400	Enhancers	Hela-S3	cervix
14	chr2:10093200-10095800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:10093200-10101200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:10093200-10105600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:10093200-10110600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:10093400-10094400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:10093400-10100800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:10093600-10094400	Weak transcription	Esophagus	oesophagus
21	chr2:10093600-10094800	Bivalent Enhancer	Brain Germinal Matrix	brain
22	chr2:10093600-10095000	Enhancers	HepG2	liver
23	chr2:10093600-10100600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:10093600-10100600	Weak transcription	K562	blood
25	chr2:10093600-10104400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:10093600-10112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:10093800-10094600	Enhancers	Liver	Liver
28	chr2:10094000-10095400	Weak transcription	Placenta	Placenta
29	chr2:10094000-10098800	Weak transcription	Adipose Nuclei	Adipose
30	chr2:10094000-10101000	Weak transcription	Dnd41	blood

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