Variant report

Variant	rs2070873
Chromosome Location	chr12:120763440-120763441
allele	G/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	chr12:120762972..120763850-chr12:121086347..121087643,3	K562	blood:
2	chr12:120727172..120733111-chr12:120749358..120767260,47	MCF-7	breast:
3	chr12:120763291..120765137-chr12:120883097..120885850,2	MCF-7	breast:
4	chr12:120761038..120763452-chr12:120881221..120883807,2	K562	blood:
5	chr12:120762985..120763833-chr12:120784194..120784733,2	K562	blood:
6	chr12:120761819..120763866-chr12:120791381..120794631,4	K562	blood:
7	chr12:120758856..120760738-chr12:120761822..120763461,2	MCF-7	breast:
8	chr12:120762089..120763810-chr12:120905605..120907503,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000257218	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1179438	0.83[CHB][hapmap]
rs2261612	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2283367	0.89[EUR][1000 genomes]
rs2285679	1.00[CEU][hapmap];0.96[TSI][hapmap];0.91[EUR][1000 genomes]
rs2522131	0.96[ASN][1000 genomes]
rs2522133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2522134	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3782901	1.00[CEU][hapmap];0.96[TSI][hapmap];0.89[EUR][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	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
3	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
5	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2070873	FBXO21	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120755400-120763600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:120761200-120765800	Active TSS	Pancreas	Pancrea
3	chr12:120761400-120765600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:120761800-120763600	Weak transcription	Spleen	Spleen
5	chr12:120762800-120763800	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr12:120763200-120763600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:120763200-120763600	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr12:120763200-120763600	Active TSS	Osteobl	bone
9	chr12:120763200-120763800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:120763200-120764000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr12:120763200-120764000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:120763200-120764000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:120763200-120764000	Active TSS	Hela-S3	cervix
14	chr12:120763200-120764200	Active TSS	Fetal Brain Female	brain
15	chr12:120763400-120763600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:120763400-120763600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:120763400-120763600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:120763400-120763600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:120763400-120763600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:120763400-120763600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:120763400-120763600	Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr12:120763400-120763600	Active TSS	Primary T cells fromperipheralblood	blood
23	chr12:120763400-120763600	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr12:120763400-120763600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:120763400-120763600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr12:120763400-120763600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:120763400-120763600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:120763400-120763600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:120763400-120763600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:120763400-120763600	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr12:120763400-120763600	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr12:120763400-120763600	Active TSS	Right Atrium	heart
33	chr12:120763400-120763600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:120763400-120763600	Flanking Active TSS	Dnd41	blood
35	chr12:120763400-120763600	Active TSS	HMEC	breast
36	chr12:120763400-120763600	Flanking Active TSS	K562	blood
37	chr12:120763400-120763600	Active TSS	NHEK	skin
38	chr12:120763400-120763800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr12:120763400-120763800	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr12:120763400-120763800	Active TSS	Primary T cells from cord blood	blood
41	chr12:120763400-120763800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr12:120763400-120763800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr12:120763400-120763800	Active TSS	Brain Germinal Matrix	brain
44	chr12:120763400-120763800	Active TSS	Brain Hippocampus Middle	brain
45	chr12:120763400-120763800	Active TSS	Esophagus	oesophagus
46	chr12:120763400-120763800	Flanking Active TSS	Fetal Brain Male	brain
47	chr12:120763400-120763800	Active TSS	Fetal Heart	heart
48	chr12:120763400-120763800	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr12:120763400-120763800	Active TSS	Left Ventricle	heart
50	chr12:120763400-120763800	Active TSS	Rectal Smooth Muscle	rectum

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