Variant report

Variant	rs73863044
Chromosome Location	chr3:101039836-101039837
allele	C/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	POLR2A	chr3:101038994-101040741	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:101039420..101041331-chr3:101051277..101053964,2	K562	blood:

Variant related genes	Relation type
IMPG2	TF binding region
ENSG00000138468	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55858411	1.00[AMR][1000 genomes]
rs56041581	1.00[AMR][1000 genomes]
rs56079188	1.00[AMR][1000 genomes]
rs57379026	1.00[AMR][1000 genomes]
rs59044339	0.93[AFR][1000 genomes]
rs60380997	1.00[AMR][1000 genomes]
rs60537707	0.93[AFR][1000 genomes]
rs73862804	1.00[AMR][1000 genomes]
rs73863048	1.00[AMR][1000 genomes]
rs73863083	0.93[AFR][1000 genomes]
rs73863098	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73864360	1.00[AMR][1000 genomes]
rs73865623	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3439278	chr3:100936513-101162102	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1003475	chr3:101005238-101120030	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101028000-101044200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr3:101029400-101044400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:101029800-101044600	Weak transcription	Primary T cells from cord blood	blood
4	chr3:101030200-101044200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:101030200-101044600	Weak transcription	Fetal Lung	lung
6	chr3:101030200-101045800	Weak transcription	HUVEC	blood vessel
7	chr3:101030200-101052800	Weak transcription	Fetal Stomach	stomach
8	chr3:101030400-101062400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:101030800-101065400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:101030800-101096400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:101031000-101044200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:101031800-101044000	Weak transcription	Primary B cells from cord blood	blood
13	chr3:101032200-101044000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr3:101032200-101055600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:101037000-101043800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:101037200-101044800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:101037200-101046000	Weak transcription	Left Ventricle	heart
18	chr3:101037600-101045400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:101038200-101040600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:101038600-101101800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:101038800-101045400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:101038800-101048000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:101038800-101089800	Weak transcription	Pancreas	Pancrea
24	chr3:101039400-101042000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:101039400-101048000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:101039600-101046400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:101039800-101106600	Weak transcription	Thymus	Thymus

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