Variant report

Variant	rs4892328
Chromosome Location	chr20:29623049-29623050
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:29621122-29623076	K562	blood:	n/a	n/a
2	POU2F2	chr20:29623039-29623395	GM12878	blood:	n/a	n/a
3	FOXA1	chr20:29622318-29623258	HepG2	liver:	n/a	n/a
4	SIX5	chr20:29623013-29623390	GM12878	blood:	n/a	n/a
5	RXRA	chr20:29622306-29623489	HepG2	liver:	n/a	n/a
6	SP1	chr20:29622396-29623435	HepG2	liver:	n/a	chr20:29623277-29623290

Variant related genes	Relation type
FRG1B	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10871821	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6057171	0.80[AMR][1000 genomes]
rs6057185	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6057373	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6057378	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6057406	0.82[ASN][1000 genomes]
rs6087167	0.85[ASN][1000 genomes]
rs6087264	0.80[ASN][1000 genomes]
rs6087306	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6118923	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6141218	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62198266	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758518	chr20:29419570-29653908	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2758791	chr20:29419570-29653908	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv428028	chr20:29419570-29653908	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv428376	chr20:29419570-29653908	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1062766	chr20:29420340-29635454	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv833950	chr20:29472154-29638425	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1058387	chr20:29479828-29651199	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv2756736	chr20:29493193-29630695	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1067193	chr20:29525410-29651199	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv11674	chr20:29528011-29653880	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv965870	chr20:29570138-29652376	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3359503	chr20:29579591-29639989	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv3336027	chr20:29579691-29639889	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv3337149	chr20:29579691-29639889	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv3343795	chr20:29579691-29639889	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	esv3380005	chr20:29579691-29639889	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	esv3441285	chr20:29579691-29639889	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	esv15335	chr20:29580700-29653880	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv585870	chr20:29603773-29648195	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv585871	chr20:29612406-29648195	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv585872	chr20:29612406-29648263	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv585873	chr20:29616742-29651821	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29613200-29634400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr20:29613600-29630600	Weak transcription	Colon Smooth Muscle	Colon
3	chr20:29613600-29634200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr20:29613600-29634400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr20:29613600-29634600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:29616000-29625200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr20:29616400-29626600	Weak transcription	Brain Substantia Nigra	brain
8	chr20:29616400-29626600	Weak transcription	HSMMtube	muscle
9	chr20:29618600-29629600	Weak transcription	Ovary	ovary
10	chr20:29619200-29625600	Weak transcription	A549	lung
11	chr20:29620400-29625800	Weak transcription	GM12878-XiMat	blood
12	chr20:29620800-29623800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:29621000-29623800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr20:29621000-29628800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr20:29621000-29630600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr20:29621200-29628400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr20:29621400-29624200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr20:29621400-29625200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr20:29621400-29625400	Weak transcription	Psoas Muscle	Psoas
20	chr20:29621400-29625800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr20:29622000-29630600	Weak transcription	Stomach Mucosa	stomach
22	chr20:29622000-29630600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr20:29622200-29623400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr20:29622400-29623200	ZNF genes & repeats	Primary T cells from cord blood	blood
25	chr20:29622400-29623200	ZNF genes & repeats	NH-A	brain
26	chr20:29622400-29623400	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr20:29622400-29623400	ZNF genes & repeats	Fetal Kidney	kidney
28	chr20:29622400-29623400	ZNF genes & repeats	Right Ventricle	heart
29	chr20:29622400-29623800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr20:29622400-29623800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
31	chr20:29622400-29624600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr20:29622400-29624600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr20:29622400-29625200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr20:29622400-29634600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr20:29622600-29623200	ZNF genes & repeats	HUVEC	blood vessel
36	chr20:29622600-29623400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr20:29622600-29624600	Strong transcription	K562	blood
38	chr20:29622600-29625600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr20:29622600-29639000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr20:29622800-29623200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr20:29622800-29623600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr20:29622800-29623600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr20:29622800-29624800	Strong transcription	Liver	Liver
44	chr20:29622800-29625000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr20:29622800-29625400	Weak transcription	Aorta	Aorta
46	chr20:29622800-29625400	Weak transcription	Left Ventricle	heart
47	chr20:29622800-29625600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr20:29622800-29625600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr20:29622800-29625600	Weak transcription	Adipose Nuclei	Adipose
50	chr20:29622800-29625600	Weak transcription	Placenta	Placenta

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