Variant report

Variant	rs72771662
Chromosome Location	chr2:10430596-10430597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10428831..10432863-chr2:10436223..10438943,4	MCF-7	breast:
2	chr2:10428846..10431890-chr2:10441149..10444501,5	MCF-7	breast:
3	chr2:10428722..10433156-chr2:10441282..10444570,6	MCF-7	breast:
4	chr2:10425395..10428329-chr2:10430052..10432008,2	MCF-7	breast:
5	chr2:10417609..10422533-chr2:10427569..10430886,4	K562	blood:
6	chr2:10424582..10428007-chr2:10430284..10432501,3	K562	blood:

Variant related genes	Relation type
ENSG00000264030	Chromatin interaction
ENSG00000115756	Chromatin interaction
ENSG00000206898	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10929653	0.90[ASN][1000 genomes]
rs13387140	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34652362	0.97[ASN][1000 genomes]
rs62128508	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS 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	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10426200-10438000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:10426800-10437600	Weak transcription	Spleen	Spleen
3	chr2:10428800-10430800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:10428800-10431000	Enhancers	HMEC	breast
5	chr2:10428800-10431000	Enhancers	Osteobl	bone
6	chr2:10429200-10430600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:10429200-10431000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:10429200-10431000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:10429200-10431000	Enhancers	HSMM	muscle
10	chr2:10429400-10430800	Enhancers	Hela-S3	cervix
11	chr2:10429400-10431800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:10429600-10430600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:10429600-10430600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:10429600-10430600	Enhancers	NH-A	brain
15	chr2:10429600-10436800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:10429800-10430600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:10429800-10430600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:10429800-10430600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:10429800-10430800	Enhancers	A549	lung
20	chr2:10430000-10430600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:10430000-10430800	Enhancers	HUVEC	blood vessel
22	chr2:10430000-10431000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:10430000-10431000	Enhancers	NHDF-Ad	bronchial
24	chr2:10430200-10431000	Enhancers	NHEK	skin
25	chr2:10430200-10435400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:10430400-10430600	Enhancers	HSMMtube	muscle
27	chr2:10430400-10431000	Enhancers	Muscle Satellite Cultured Cells	--

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