Variant report

Variant	rs62243073
Chromosome Location	chr3:20083275-20083276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20082249..20087148-chr3:20090873..20095169,4	K562	blood:
2	chr3:20036427..20038510-chr3:20080865..20083451,2	K562	blood:
3	chr3:19986985..19992254-chr3:20079680..20083856,14	K562	blood:
4	chr3:20083177..20086049-chr3:20086105..20087867,2	MCF-7	breast:
5	chr3:19986921..19992254-chr3:20078952..20084327,16	K562	blood:

Variant related genes	Relation type
ENSG00000144566	Chromatin interaction
ENSG00000201545	Chromatin interaction
ENSG00000163576	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1915919	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	17 gene(s)	inside rSNPs	diseases
4	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv1825988	chr3:19976375-20102773	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv997486	chr3:20006702-20113989	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv834627	chr3:20068115-20227975	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	esv3426803	chr3:20080473-20083321	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20080200-20083400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr3:20080200-20083400	Active TSS	Colon Smooth Muscle	Colon
3	chr3:20080400-20083400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:20080400-20083400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr3:20080400-20083400	Active TSS	Psoas Muscle	Psoas
6	chr3:20080400-20083600	Active TSS	Right Ventricle	heart
7	chr3:20080400-20083800	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr3:20080600-20083400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:20080600-20083400	Active TSS	Thymus	Thymus
10	chr3:20080600-20083600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:20080800-20083400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:20080800-20083400	Active TSS	Brain Hippocampus Middle	brain
13	chr3:20080800-20083600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:20080800-20084400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:20081000-20083400	Active TSS	Brain Cingulate Gyrus	brain
16	chr3:20081200-20083400	Active TSS	Primary T cells from cord blood	blood
17	chr3:20081200-20083400	Active TSS	Placenta Amnion	Placenta Amnion
18	chr3:20082000-20083600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:20082400-20083400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:20082400-20083400	ZNF genes & repeats	Fetal Brain Male	brain
21	chr3:20082400-20083400	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr3:20082400-20083400	Flanking Active TSS	NHEK	skin
23	chr3:20082400-20083600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr3:20082400-20083600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr3:20082400-20083600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr3:20082400-20083600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr3:20082400-20083600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:20082400-20083600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:20082400-20083600	Flanking Active TSS	Dnd41	blood
30	chr3:20082600-20083400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:20082600-20083400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:20082600-20083400	Flanking Active TSS	Colonic Mucosa	Colon
33	chr3:20082600-20083400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr3:20082600-20083400	Flanking Active TSS	Placenta	Placenta
35	chr3:20082600-20083400	Flanking Active TSS	Fetal Stomach	stomach
36	chr3:20082600-20083400	Flanking Active TSS	HSMM	muscle
37	chr3:20082600-20083600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:20082600-20083600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr3:20082600-20083600	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr3:20082600-20083600	Flanking Active TSS	Liver	Liver
41	chr3:20082600-20083800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr3:20082600-20083800	Active TSS	Right Atrium	heart
43	chr3:20082600-20083800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr3:20082800-20083400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr3:20082800-20083400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:20082800-20083400	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr3:20082800-20083400	Flanking Active TSS	HMEC	breast
48	chr3:20082800-20083600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr3:20082800-20083600	Flanking Active TSS	K562	blood
50	chr3:20082800-20084000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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