Variant report

Variant	rs72986799
Chromosome Location	chr3:139173115-139173116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139168645..139171256-chr3:139173067..139176313,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1007079	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11919679	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1602627	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs182409	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs188419	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs192688	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs211581	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs211584	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2233817	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278577	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs295475	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs295476	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs295477	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3772874	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3772875	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3821546	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60082560	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60961550	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439863	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6776315	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7373142	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7373302	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7648636	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9819224	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9858740	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9859683	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9879736	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9879748	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9882253	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877543	chr3:139021139-139327261	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv949635	chr3:139091219-139367043	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1000519	chr3:139159300-139206245	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2752377	chr3:139163302-139188302	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139142800-139176800	Weak transcription	Fetal Stomach	stomach
2	chr3:139144800-139173200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:139154200-139173600	Weak transcription	Ovary	ovary
4	chr3:139154200-139178600	Weak transcription	Left Ventricle	heart
5	chr3:139158600-139174800	Weak transcription	Adipose Nuclei	Adipose
6	chr3:139160200-139174800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:139160600-139174800	Weak transcription	Fetal Brain Male	brain
8	chr3:139163400-139189000	Weak transcription	Small Intestine	intestine
9	chr3:139163800-139180200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:139165800-139178600	Weak transcription	Right Ventricle	heart
11	chr3:139166000-139179000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:139167000-139175400	Weak transcription	Fetal Brain Female	brain
13	chr3:139167400-139173200	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:139167400-139174800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:139167400-139176000	Weak transcription	Brain Anterior Caudate	brain
16	chr3:139167600-139173400	Weak transcription	Brain Germinal Matrix	brain
17	chr3:139168000-139175200	Weak transcription	Brain Angular Gyrus	brain
18	chr3:139168600-139196000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:139169200-139175000	Genic enhancers	Fetal Intestine Small	intestine
20	chr3:139169400-139173400	Weak transcription	Pancreas	Pancrea
21	chr3:139170600-139173200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr3:139170800-139173600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:139170800-139174600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:139171200-139210200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr3:139171400-139174800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:139171400-139175800	Weak transcription	Brain Substantia Nigra	brain
27	chr3:139171400-139179400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr3:139171400-139179400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr3:139171800-139176000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr3:139171800-139176200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:139172000-139175600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:139172000-139176200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:139172000-139176200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:139172200-139173400	Weak transcription	HSMMtube	muscle
35	chr3:139172200-139175400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:139172400-139173600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:139172400-139174000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:139172400-139175400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr3:139172400-139177000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:139172600-139174400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr3:139172600-139175200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr3:139173000-139173400	Strong transcription	Fetal Intestine Large	intestine

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