Variant report

Variant	rs2623077
Chromosome Location	chr3:20111481-20111482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11128935	0.89[ASN][1000 genomes]
rs11128939	0.83[ASN][1000 genomes]
rs13076325	0.82[ASN][1000 genomes]
rs13076918	0.83[ASN][1000 genomes]
rs13082735	0.98[ASN][1000 genomes]
rs1986917	0.86[EUR][1000 genomes]
rs2140084	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2293140	0.88[ASN][1000 genomes]
rs2293141	0.88[ASN][1000 genomes]
rs2365367	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2365368	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2365369	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2365785	0.87[ASN][1000 genomes]
rs2365792	0.83[ASN][1000 genomes]
rs2365794	0.83[ASN][1000 genomes]
rs2886463	0.87[ASN][1000 genomes]
rs2929393	0.87[EUR][1000 genomes]
rs4020098	0.89[ASN][1000 genomes]
rs4241546	0.82[ASN][1000 genomes]
rs4308300	0.91[ASN][1000 genomes]
rs4419399	0.87[ASN][1000 genomes]
rs4420892	0.89[ASN][1000 genomes]
rs4586829	0.83[ASN][1000 genomes]
rs4858155	0.83[ASN][1000 genomes]
rs4858756	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4858762	0.84[ASN][1000 genomes]
rs4858764	0.83[ASN][1000 genomes]
rs4858766	0.83[ASN][1000 genomes]
rs62243138	0.81[ASN][1000 genomes]
rs6419825	0.84[ASN][1000 genomes]
rs6419826	0.83[ASN][1000 genomes]
rs6763170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765791	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6773913	0.88[ASN][1000 genomes]
rs6776870	0.86[ASN][1000 genomes]
rs6777250	0.84[ASN][1000 genomes]
rs6782086	0.88[ASN][1000 genomes]
rs6783552	0.87[ASN][1000 genomes]
rs6784711	0.88[ASN][1000 genomes]
rs6788814	0.83[ASN][1000 genomes]
rs6803231	0.88[EUR][1000 genomes]
rs7622463	0.82[ASN][1000 genomes]
rs7630581	0.84[ASN][1000 genomes]
rs7647946	0.83[ASN][1000 genomes]
rs9310606	0.82[ASN][1000 genomes]
rs9310607	0.83[ASN][1000 genomes]
rs9844817	0.83[ASN][1000 genomes]
rs9851449	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9917785	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
7	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
8	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
9	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
10	nsv433359	chr3:20090908-20587572	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv470450	chr3:20096735-20389045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv1001006	chr3:20110743-20752628	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv536512	chr3:20110743-20752628	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20099000-20122600	Weak transcription	Aorta	Aorta
2	chr3:20099400-20112600	Weak transcription	HSMMtube	muscle
3	chr3:20099400-20112800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:20099400-20122600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:20099400-20122800	Weak transcription	Lung	lung
6	chr3:20102800-20113400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:20102800-20136800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr3:20103200-20112600	Weak transcription	Primary T cells from cord blood	blood
9	chr3:20103200-20112800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr3:20103200-20113000	Weak transcription	Primary B cells from cord blood	blood
11	chr3:20103200-20113000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:20103200-20113000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr3:20103200-20113200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:20103200-20114000	Weak transcription	Liver	Liver
15	chr3:20103200-20119400	Weak transcription	Fetal Intestine Small	intestine
16	chr3:20103200-20122200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:20104200-20111800	Enhancers	Brain Substantia Nigra	brain
18	chr3:20104400-20113400	Enhancers	Brain Hippocampus Middle	brain
19	chr3:20105800-20113200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:20106400-20122600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr3:20106800-20112600	Weak transcription	Fetal Heart	heart
22	chr3:20106800-20130800	Weak transcription	Fetal Intestine Large	intestine
23	chr3:20107000-20112200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:20107000-20116800	Weak transcription	Small Intestine	intestine
25	chr3:20107000-20117000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:20107000-20122600	Weak transcription	Gastric	stomach
27	chr3:20107000-20122600	Weak transcription	Pancreas	Pancrea
28	chr3:20107000-20122600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr3:20107200-20122400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr3:20107400-20112800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:20107800-20113200	Weak transcription	Right Atrium	heart
32	chr3:20107800-20122600	Weak transcription	Spleen	Spleen
33	chr3:20107800-20122800	Weak transcription	Esophagus	oesophagus
34	chr3:20108200-20127600	Weak transcription	Ovary	ovary
35	chr3:20108600-20113000	Weak transcription	Thymus	Thymus
36	chr3:20108600-20113200	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:20108600-20113200	Weak transcription	Left Ventricle	heart
38	chr3:20109000-20113400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:20109000-20113600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:20109000-20115200	Weak transcription	Hela-S3	cervix
41	chr3:20109000-20121200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:20109200-20112800	Weak transcription	HSMM	muscle
43	chr3:20109200-20113200	Weak transcription	Fetal Stomach	stomach
44	chr3:20109200-20113600	Weak transcription	Fetal Lung	lung
45	chr3:20109200-20115200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr3:20109200-20115200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:20109200-20122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:20109400-20111800	Weak transcription	Dnd41	blood
49	chr3:20109400-20113200	Weak transcription	Fetal Thymus	thymus
50	chr3:20109600-20111600	Enhancers	Brain Cingulate Gyrus	brain

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