Variant report

Variant	rs73864585
Chromosome Location	chr3:138190564-138190565
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr3:138190457-138190596	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138186020..138187574-chr3:138189253..138191029,2	K562	blood:

Variant related genes	Relation type
ESYT3	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10428128	1.00[EUR][1000 genomes]
rs11921301	1.00[EUR][1000 genomes]
rs11923867	1.00[EUR][1000 genomes]
rs11926199	1.00[EUR][1000 genomes]
rs1865	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57333469	1.00[EUR][1000 genomes]
rs57752939	1.00[EUR][1000 genomes]
rs57873424	1.00[EUR][1000 genomes]
rs57952208	1.00[EUR][1000 genomes]
rs58205884	1.00[EUR][1000 genomes]
rs58725012	1.00[EUR][1000 genomes]
rs58886826	1.00[EUR][1000 genomes]
rs59086521	1.00[EUR][1000 genomes]
rs59316948	1.00[EUR][1000 genomes]
rs59336525	1.00[EUR][1000 genomes]
rs60121038	1.00[EUR][1000 genomes]
rs60220475	1.00[EUR][1000 genomes]
rs60331753	1.00[EUR][1000 genomes]
rs61361298	1.00[EUR][1000 genomes]
rs6439800	1.00[EUR][1000 genomes]
rs6794254	1.00[EUR][1000 genomes]
rs73864577	1.00[EUR][1000 genomes]
rs73864583	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73864584	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7625183	1.00[EUR][1000 genomes]
rs9755326	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv460864	chr3:138100539-138194435	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv591853	chr3:138100539-138194435	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv999041	chr3:138148812-138347988	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv522517	chr3:138174523-138297982	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138161600-138198400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr3:138170800-138198400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:138171000-138193000	Weak transcription	Pancreas	Pancrea
4	chr3:138171400-138198400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:138175200-138196000	Weak transcription	Brain Anterior Caudate	brain
6	chr3:138177600-138195400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:138178000-138197000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:138178200-138196000	Weak transcription	Aorta	Aorta
9	chr3:138179800-138199400	Weak transcription	Thymus	Thymus
10	chr3:138181200-138192400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:138184400-138191200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:138184400-138198400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:138185000-138195200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:138187400-138191000	Enhancers	NHDF-Ad	bronchial
15	chr3:138187600-138197000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr3:138188000-138210800	Weak transcription	Lung	lung
17	chr3:138188000-138211600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:138188200-138196200	Strong transcription	Fetal Muscle Leg	muscle
19	chr3:138188200-138197400	Weak transcription	HSMM	muscle
20	chr3:138188200-138197600	Weak transcription	HSMMtube	muscle
21	chr3:138188400-138191600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:138188400-138196400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:138189000-138195200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:138189000-138195400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:138189600-138191200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:138189600-138191200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr3:138189600-138198400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:138189800-138197800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:138190000-138191200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:138190000-138194400	Weak transcription	Right Ventricle	heart
31	chr3:138190000-138210800	Weak transcription	Psoas Muscle	Psoas
32	chr3:138190200-138190800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:138190200-138191000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:138190200-138193400	Weak transcription	Fetal Heart	heart

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