Variant report

Variant	rs3787572
Chromosome Location	chr20:1100403-1100404
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1099609..1102022-chr20:1115738..1118219,2	K562	blood:
2	chr20:1099357..1100931-chr20:1102003..1104319,2	K562	blood:
3	chr20:1099416..1102293-chr20:1159326..1161396,2	K562	blood:
4	chr20:1099167..1103189-chr20:1144544..1147545,4	K562	blood:

Variant related genes	Relation type
ENSG00000125818	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11908561	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1803415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883522	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2072961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072962	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2072963	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2072964	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2179449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2179450	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2235587	1.00[CEU][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2268065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284371	0.91[JPT][hapmap]
rs2284372	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284375	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4142353	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4289256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6040009	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040024	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6040108	0.86[ASN][1000 genomes]
rs6040155	0.80[JPT][hapmap]
rs6074148	0.90[JPT][hapmap]
rs6077826	0.91[JPT][hapmap]
rs6077915	0.81[JPT][hapmap]
rs6133957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6133961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6133989	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[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	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS 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
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats 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	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1065838	chr20:866302-1147601	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats 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
6	nsv544139	chr20:866302-1147601	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1055328	chr20:867911-1145765	Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1059611	chr20:867911-1158694	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv544140	chr20:867911-1158694	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv949356	chr20:961527-1135413	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	esv1799982	chr20:1097289-1136252	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1098400-1101000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr20:1098600-1100600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr20:1099000-1100600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr20:1099000-1100600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr20:1099000-1100600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr20:1099000-1101000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr20:1099400-1100600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr20:1099400-1100800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr20:1099400-1100800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr20:1099400-1101600	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr20:1099600-1100600	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr20:1099600-1100600	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr20:1099600-1100600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr20:1099600-1100600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr20:1099600-1100600	Flanking Active TSS	Colonic Mucosa	Colon
16	chr20:1099600-1100600	Flanking Active TSS	HUVEC	blood vessel
17	chr20:1099600-1100600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr20:1099600-1100800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr20:1099600-1101000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr20:1099600-1101000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr20:1099600-1101200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr20:1099800-1100600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr20:1099800-1100600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr20:1099800-1100600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr20:1099800-1100600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr20:1099800-1100600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr20:1099800-1100600	Flanking Active TSS	Liver	Liver
28	chr20:1099800-1100600	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr20:1099800-1100600	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr20:1099800-1100600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr20:1099800-1100600	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr20:1099800-1100600	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr20:1099800-1100600	Flanking Active TSS	Fetal Stomach	stomach
34	chr20:1099800-1100600	Flanking Active TSS	Fetal Thymus	thymus
35	chr20:1099800-1100600	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr20:1099800-1100600	Flanking Active TSS	Thymus	Thymus
37	chr20:1099800-1100600	Flanking Active TSS	NH-A	brain
38	chr20:1099800-1100600	Flanking Active TSS	Osteobl	bone
39	chr20:1099800-1100800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr20:1099800-1100800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr20:1099800-1100800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr20:1099800-1100800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr20:1099800-1100800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr20:1099800-1100800	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr20:1099800-1100800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr20:1099800-1100800	Flanking Active TSS	Fetal Heart	heart
47	chr20:1099800-1100800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr20:1099800-1101000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr20:1099800-1101000	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr20:1099800-1101000	Flanking Active TSS	Fetal Lung	lung

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