Variant report

Variant	rs1731422
Chromosome Location	chr12:44276369-44276370
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:42876592..42877329-chr12:44276106..44277055,3	K562	blood:
2	chr12:44170101..44170969-chr12:44276130..44276954,2	K562	blood:
3	chr12:44199227..44200140-chr12:44276081..44276608,2	K562	blood:
4	chr12:44170013..44170913-chr12:44276071..44277312,10	MCF-7	breast:
5	chr12:43838710..43839367-chr12:44275853..44276638,2	MCF-7	breast:
6	chr12:44197755..44201002-chr12:44273238..44276377,3	MCF-7	breast:
7	chr12:44228150..44229800-chr12:44275974..44278416,2	MCF-7	breast:
8	chr12:43895288..43896089-chr12:44276115..44276753,2	MCF-7	breast:
9	chr12:44152812..44153683-chr12:44276089..44276634,2	MCF-7	breast:
10	chr12:44170161..44170978-chr12:44276181..44276998,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151239	Chromatin interaction
ENSG00000139174	Chromatin interaction
ENSG00000198001	Chromatin interaction
ENSG00000139173	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10748373	0.88[ASN][1000 genomes]
rs11182294	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11182326	0.82[GIH][hapmap]
rs12298970	0.88[ASN][1000 genomes]
rs12307644	0.80[YRI][hapmap]
rs12311962	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs12314126	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[ASN][1000 genomes]
rs1406786	0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs1675759	0.86[AFR][1000 genomes]
rs1675760	0.86[AFR][1000 genomes]
rs1675765	1.00[CHB][hapmap]
rs1675766	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1675771	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[ASN][1000 genomes]
rs1675774	0.83[ASN][1000 genomes]
rs1675776	0.81[ASN][1000 genomes]
rs1675778	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1675782	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1675783	0.88[ASN][1000 genomes]
rs1675784	0.88[ASN][1000 genomes]
rs1675786	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1675788	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1675791	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1731424	0.83[ASW][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs1731425	0.84[AFR][1000 genomes]
rs1731438	0.88[ASN][1000 genomes]
rs1731439	1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[ASN][1000 genomes]
rs1731440	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1731442	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1731449	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1731453	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2447114	0.88[ASN][1000 genomes]
rs2447115	0.88[ASN][1000 genomes]
rs2447116	0.83[ASN][1000 genomes]
rs2699992	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2951436	0.88[ASN][1000 genomes]
rs4238092	0.83[GIH][hapmap]
rs4768049	0.88[ASN][1000 genomes]
rs73098836	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7953229	1.00[ASN][1000 genomes]
rs7956766	0.83[ASW][hapmap];0.82[YRI][hapmap]
rs7957146	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7958314	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7965635	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs7966024	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7979369	0.82[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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
2	chr12:44256400-44285600	Weak transcription	HSMMtube	muscle
3	chr12:44263600-44277000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44263800-44277600	Weak transcription	Left Ventricle	heart
5	chr12:44273800-44278400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:44274400-44277200	Weak transcription	HSMM	muscle
7	chr12:44274600-44278600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:44274600-44286000	Weak transcription	Pancreas	Pancrea
9	chr12:44275000-44276600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:44275000-44278400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:44275000-44281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:44275200-44277800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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