Variant report

Variant	rs72929719
Chromosome Location	chr3:93800049-93800050
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:93794571..93797084-chr3:93799451..93801851,3	K562	blood:

Variant related genes	Relation type
ENSG00000242457	Chromatin interaction
ENSG00000178694	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11927165	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28372461	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28479320	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60331129	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6765330	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6795524	0.84[EUR][1000 genomes]
rs7615950	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7644176	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9810986	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9815634	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990106	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869241	chr3:93527675-94504491	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv998173	chr3:93575084-94427403	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv536644	chr3:93575084-94427403	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1008711	chr3:93575284-94427264	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv536646	chr3:93575284-94427264	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv491829	chr3:93575285-94427263	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv1795060	chr3:93602038-93848525	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	n/a
8	esv1791740	chr3:93602927-93849247	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	n/a
9	esv2755326	chr3:93605126-93882750	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	n/a
10	nsv1013107	chr3:93654100-94102212	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv536648	chr3:93654100-94102212	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1004176	chr3:93654100-94502551	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv877162	chr3:93779664-94278078	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv877163	chr3:93795972-94047775	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93782400-93804400	Weak transcription	Spleen	Spleen
2	chr3:93782800-93813400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:93782800-93848200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:93782800-93849400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:93783000-93803000	Weak transcription	Psoas Muscle	Psoas
6	chr3:93783000-93810600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:93783000-93813800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:93783000-93813800	Weak transcription	Right Ventricle	heart
9	chr3:93783200-93824600	Weak transcription	NHEK	skin
10	chr3:93783200-93851600	Weak transcription	HMEC	breast
11	chr3:93783400-93813800	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:93783400-93833000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:93783600-93837800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:93784400-93802000	Weak transcription	Small Intestine	intestine
15	chr3:93784600-93814000	Weak transcription	A549	lung
16	chr3:93784600-93817400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:93784800-93820200	Weak transcription	Hela-S3	cervix
18	chr3:93785600-93834400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:93786200-93804200	Weak transcription	Thymus	Thymus
20	chr3:93786200-93834600	Weak transcription	Brain Substantia Nigra	brain
21	chr3:93786400-93830800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:93786600-93801000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr3:93786800-93804200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:93786800-93808400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:93786800-93816400	Weak transcription	HUVEC	blood vessel
26	chr3:93786800-93849800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:93788200-93803000	Weak transcription	Brain Anterior Caudate	brain
28	chr3:93788200-93804400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:93788200-93817000	Weak transcription	NHDF-Ad	bronchial
30	chr3:93791000-93804200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:93791200-93803000	Weak transcription	Left Ventricle	heart
32	chr3:93791400-93803000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:93791400-93803600	Weak transcription	Placenta	Placenta
34	chr3:93791400-93805800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:93791400-93808200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:93791400-93810400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr3:93791400-93813800	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:93791400-93814000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:93791400-93841200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:93791600-93801000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:93791600-93803400	Weak transcription	Dnd41	blood
42	chr3:93792000-93801000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:93792000-93803000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr3:93792000-93816600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:93792200-93805000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:93792200-93833200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:93795400-93802800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:93795400-93803200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr3:93795400-93817200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:93795600-93801600	Weak transcription	Fetal Kidney	kidney

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