Variant report

Variant	rs2011430
Chromosome Location	chr2:10428813-10428814
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10428722..10433156-chr2:10441282..10444570,6	MCF-7	breast:
2	chr2:10427792..10430069-chr2:10536723..10539558,2	MCF-7	breast:
3	chr2:10427703..10429703-chr2:10465002..10467932,2	MCF-7	breast:
4	chr2:10417609..10422533-chr2:10427569..10430886,4	K562	blood:

Variant related genes	Relation type
ENSG00000264030	Chromatin interaction
ENSG00000115756	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10803717	0.98[ASN][1000 genomes]
rs6432086	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432087	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432089	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7571627	0.89[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2011430	ID2	cis	cerebellum	SCAN
rs2011430	PDIA6	cis	parietal	SCAN
rs2011430	RSAD2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10421800-10429400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:10423400-10429800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:10424400-10429600	Enhancers	Liver	Liver
4	chr2:10426200-10429600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:10426200-10438000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:10426400-10429600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr2:10426800-10429800	Weak transcription	NHLF	lung
8	chr2:10426800-10430000	Weak transcription	HUVEC	blood vessel
9	chr2:10426800-10437600	Weak transcription	Spleen	Spleen
10	chr2:10427000-10429600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:10427000-10429600	Weak transcription	NH-A	brain
12	chr2:10427000-10430000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:10427000-10430000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:10427000-10430000	Weak transcription	NHDF-Ad	bronchial
15	chr2:10427200-10430000	Weak transcription	Esophagus	oesophagus
16	chr2:10427400-10429200	Weak transcription	HSMM	muscle
17	chr2:10427400-10429800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:10427400-10429800	Enhancers	NHEK	skin
19	chr2:10427400-10430400	Weak transcription	HSMMtube	muscle
20	chr2:10427600-10429400	Weak transcription	Hela-S3	cervix
21	chr2:10427800-10429200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:10428000-10429200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:10428000-10429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:10428000-10429800	Weak transcription	A549	lung
25	chr2:10428600-10429400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:10428600-10430400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:10428800-10429200	Enhancers	Adipose Nuclei	Adipose
28	chr2:10428800-10430800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:10428800-10431000	Enhancers	HMEC	breast
30	chr2:10428800-10431000	Enhancers	Osteobl	bone

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