Variant report

Variant	rs7581701
Chromosome Location	chr2:10093908-10093909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10091739..10097867-chr2:10098252..10106254,13	K562	blood:
2	chr2:10092110..10094474-chr2:10182208..10184991,2	K562	blood:
3	chr2:10090913..10094433-chr2:10181887..10185131,5	K562	blood:
4	chr2:10091367..10094043-chr2:10260841..10262617,2	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	chr2:10090160..10094173-chr2:10181224..10185885,6	MCF-7	breast:
8	chr2:9983066..9987186-chr2:10091615..10095343,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272524	Chromatin interaction
ENSG00000115750	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000171848	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2303918	0.80[AFR][1000 genomes]
rs3791765	0.91[ASN][1000 genomes]
rs6708858	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7581717	0.94[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10091200-10094000	Active TSS	Placenta	Placenta
2	chr2:10092200-10095600	Bivalent Enhancer	Fetal Lung	lung
3	chr2:10092600-10094400	Weak transcription	Pancreas	Pancrea
4	chr2:10092600-10094600	Weak transcription	Gastric	stomach
5	chr2:10092600-10104200	Weak transcription	Lung	lung
6	chr2:10092600-10112600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:10092600-10113400	Weak transcription	Left Ventricle	heart
8	chr2:10092800-10094400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:10092800-10094600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:10092800-10101000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:10092800-10101200	Weak transcription	Brain Angular Gyrus	brain
12	chr2:10092800-10110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:10093000-10094400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:10093200-10094400	Enhancers	Hela-S3	cervix
15	chr2:10093200-10095800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:10093200-10101200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:10093200-10105600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:10093200-10110600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:10093400-10094000	Enhancers	Adipose Nuclei	Adipose
20	chr2:10093400-10094000	Enhancers	Dnd41	blood
21	chr2:10093400-10094400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:10093400-10100800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:10093600-10094400	Weak transcription	Esophagus	oesophagus
24	chr2:10093600-10094800	Bivalent Enhancer	Brain Germinal Matrix	brain
25	chr2:10093600-10095000	Enhancers	HepG2	liver
26	chr2:10093600-10100600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:10093600-10100600	Weak transcription	K562	blood
28	chr2:10093600-10104400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:10093600-10112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:10093800-10094000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr2:10093800-10094600	Enhancers	Liver	Liver

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