Variant report

Variant	rs8020042
Chromosome Location	chr14:70257369-70257370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70252150..70254592-chr14:70256413..70257995,2	K562	blood:
2	chr14:70256847..70259062-chr14:70261401..70263473,2	K562	blood:
3	chr14:70248146..70250325-chr14:70255541..70258035,3	MCF-7	breast:
4	chr14:70256922..70258449-chr14:70268718..70271481,2	K562	blood:
5	chr14:70255116..70258123-chr14:70258993..70261547,3	MCF-7	breast:
6	chr14:70256053..70260532-chr14:70262119..70264401,5	MCF-7	breast:
7	chr14:70244657..70246723-chr14:70256430..70258319,2	K562	blood:

Variant related genes	Relation type
ENSG00000100652	Chromatin interaction
ENSG00000221060	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10130174	0.91[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145643	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10498531	0.85[GIH][hapmap]
rs11623504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11626135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626930	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628140	0.89[EUR][1000 genomes]
rs11628646	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs11628755	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11629222	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12431918	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs12434311	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12434937	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436240	1.00[CHB][hapmap]
rs17107282	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28488181	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28595072	0.94[EUR][1000 genomes]
rs2877596	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340264	0.86[EUR][1000 genomes]
rs4341691	0.82[EUR][1000 genomes]
rs45527638	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55663855	0.83[AFR][1000 genomes]
rs56063215	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56154784	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60401303	0.88[AFR][1000 genomes]
rs61982074	0.89[EUR][1000 genomes]
rs61982101	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982104	0.93[EUR][1000 genomes]
rs61982105	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982106	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61982107	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7159823	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];0.96[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72725721	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725750	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73285211	0.86[AFR][1000 genomes]
rs8013586	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014462	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs8018389	0.94[EUR][1000 genomes]
rs8019166	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943276	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70238200-70263600	Weak transcription	Stomach Mucosa	stomach
2	chr14:70245600-70257400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:70246200-70258400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:70246200-70259800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:70246400-70261800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:70246400-70264000	Weak transcription	Fetal Intestine Small	intestine
7	chr14:70247000-70264600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:70248200-70263000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:70248200-70271600	Weak transcription	Psoas Muscle	Psoas
10	chr14:70248400-70264400	Weak transcription	Esophagus	oesophagus
11	chr14:70248600-70263600	Weak transcription	Right Ventricle	heart
12	chr14:70248800-70264000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:70249000-70264000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:70251800-70264200	Weak transcription	Colonic Mucosa	Colon
15	chr14:70253400-70257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:70253400-70259800	Weak transcription	Pancreas	Pancrea
17	chr14:70253400-70263400	Weak transcription	Lung	lung
18	chr14:70253400-70263600	Weak transcription	Gastric	stomach
19	chr14:70253400-70263800	Weak transcription	Brain Anterior Caudate	brain
20	chr14:70253400-70264200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr14:70253600-70257600	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:70253600-70263400	Weak transcription	Placenta	Placenta
23	chr14:70253600-70263400	Weak transcription	Left Ventricle	heart
24	chr14:70253600-70263800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr14:70253600-70263800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:70253800-70257600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:70253800-70264000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr14:70254200-70263600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr14:70254200-70265800	Weak transcription	Spleen	Spleen
30	chr14:70254800-70275600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:70256800-70258000	Enhancers	GM12878-XiMat	blood
32	chr14:70257200-70258200	Weak transcription	Liver	Liver

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