Variant report

Variant	rs73864583
Chromosome Location	chr3:138188129-138188130
allele	A/G
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	TFAP2C	chr3:138187565-138188283	Hela-S3	cervix:	n/a	chr3:138188004-138188019
2	TFAP2A	chr3:138187780-138188317	Hela-S3	cervix:	n/a	chr3:138188004-138188019 chr3:138188006-138188020 chr3:138188006-138188020

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138185730..138189738-chr3:138190908..138194397,4	MCF-7	breast:
2	chr3:138186886..138189284-chr3:138191772..138193552,2	K562	blood:

Variant related genes	Relation type
ESYT3	TF binding region
ENSG00000158220	Chromatin interaction

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	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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6439800	1.00[EUR][1000 genomes]
rs6794254	1.00[EUR][1000 genomes]
rs73864577	1.00[EUR][1000 genomes]
rs73864584	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73864585	0.90[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:54 , 50 per page) page: 1 2

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	chr3:138178800-138188800	Weak transcription	Right Ventricle	heart
10	chr3:138179800-138188600	Weak transcription	Fetal Intestine Small	intestine
11	chr3:138179800-138199400	Weak transcription	Thymus	Thymus
12	chr3:138181200-138192400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:138184400-138188200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:138184400-138191200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:138184400-138198400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:138185000-138195200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:138185400-138189600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr3:138186200-138188200	Strong transcription	Fetal Stomach	stomach
19	chr3:138186200-138190200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:138186400-138190200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:138186600-138189000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:138187000-138190200	Enhancers	Rectal Smooth Muscle	rectum
23	chr3:138187000-138190400	Enhancers	Colon Smooth Muscle	Colon
24	chr3:138187200-138188400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:138187200-138189600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:138187400-138188200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:138187400-138188200	Enhancers	Left Ventricle	heart
28	chr3:138187400-138188400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:138187400-138188400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:138187400-138188400	Enhancers	Hela-S3	cervix
31	chr3:138187400-138188400	Enhancers	NHEK	skin
32	chr3:138187400-138191000	Enhancers	NHDF-Ad	bronchial
33	chr3:138187600-138188200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:138187600-138188200	Enhancers	Adipose Nuclei	Adipose
35	chr3:138187600-138188200	Enhancers	Fetal Intestine Large	intestine
36	chr3:138187600-138188200	Genic enhancers	Fetal Muscle Leg	muscle
37	chr3:138187600-138188200	Enhancers	HSMM	muscle
38	chr3:138187600-138188400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:138187600-138188400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:138187600-138188400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:138187600-138188400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:138187600-138188600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:138187600-138188800	Enhancers	Osteobl	bone
44	chr3:138187600-138197000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr3:138187800-138188200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:138187800-138188200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:138187800-138188200	Enhancers	HSMMtube	muscle
48	chr3:138187800-138188400	Enhancers	HMEC	breast
49	chr3:138187800-138188800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:138187800-138188800	Weak transcription	Psoas Muscle	Psoas

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