Variant report

Variant	rs72982685
Chromosome Location	chr3:138351656-138351657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138349471..138351929-chr3:138352656..138354729,2	K562	blood:
2	chr3:138350301..138352156-chr3:138373994..138376054,2	K562	blood:
3	chr3:138350409..138353105-chr3:138651572..138653384,2	K562	blood:
4	chr3:138337140..138340391-chr3:138349263..138352301,3	K562	blood:

Variant related genes	Relation type
ENSG00000158234	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56382670	1.00[AMR][1000 genomes]
rs56927625	1.00[AMR][1000 genomes]
rs57600048	1.00[AMR][1000 genomes]
rs58671569	0.88[AFR][1000 genomes]
rs59797415	0.85[AFR][1000 genomes]
rs60850836	0.85[AFR][1000 genomes]
rs60987624	1.00[AMR][1000 genomes]
rs61301555	1.00[AMR][1000 genomes]
rs72972909	1.00[AMR][1000 genomes]
rs72972913	1.00[AMR][1000 genomes]
rs72972920	1.00[AMR][1000 genomes]
rs72972926	1.00[AMR][1000 genomes]
rs7611523	1.00[AMR][1000 genomes]
rs7635120	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active 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
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138328400-138353200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:138328400-138355000	Weak transcription	Esophagus	oesophagus
3	chr3:138328600-138358000	Weak transcription	Psoas Muscle	Psoas
4	chr3:138328800-138358000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:138329000-138354200	Weak transcription	Fetal Lung	lung
6	chr3:138335400-138368000	Weak transcription	Right Ventricle	heart
7	chr3:138337000-138360400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:138337800-138353600	Weak transcription	Colonic Mucosa	Colon
9	chr3:138338000-138353400	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:138340400-138393800	Weak transcription	Fetal Brain Male	brain
11	chr3:138341200-138355800	Weak transcription	Dnd41	blood
12	chr3:138341400-138354600	Weak transcription	Brain Angular Gyrus	brain
13	chr3:138341800-138355200	Weak transcription	Primary B cells from cord blood	blood
14	chr3:138342400-138362200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:138342600-138356400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:138343200-138352200	Weak transcription	Primary T cells from cord blood	blood
17	chr3:138343600-138352200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:138344800-138354000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr3:138345000-138354800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:138345000-138356600	Weak transcription	HSMMtube	muscle
21	chr3:138345000-138367800	Weak transcription	HSMM	muscle
22	chr3:138345200-138357600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:138345200-138357600	Weak transcription	Spleen	Spleen
24	chr3:138345400-138352800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:138345400-138354200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr3:138345400-138355600	Weak transcription	NH-A	brain
27	chr3:138345400-138361600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:138345400-138368000	Weak transcription	NHLF	lung
29	chr3:138345600-138356600	Weak transcription	Brain Substantia Nigra	brain
30	chr3:138345600-138367400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:138345800-138354200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:138345800-138368000	Weak transcription	HMEC	breast
33	chr3:138346000-138354600	Weak transcription	NHEK	skin
34	chr3:138346600-138356200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr3:138346600-138357800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:138347200-138352800	Weak transcription	Placenta	Placenta
37	chr3:138348000-138353000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:138348200-138353200	Strong transcription	Adipose Nuclei	Adipose
39	chr3:138348200-138353400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:138348400-138354600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:138348600-138355600	Weak transcription	Fetal Intestine Large	intestine
42	chr3:138348800-138357800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr3:138348800-138368000	Weak transcription	Hela-S3	cervix
44	chr3:138349000-138352600	Weak transcription	Gastric	stomach
45	chr3:138349000-138352600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:138349000-138358200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:138349000-138367400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:138349000-138368000	Weak transcription	Pancreas	Pancrea
49	chr3:138349200-138354200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr3:138349200-138355600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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