Variant report

Variant	rs57616952
Chromosome Location	chr20:29525214-29525215
allele	A/G/T
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	CTCF	chr20:29525100-29525250	HPF	lung:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
2	ZBTB7A	chr20:29525034-29525495	K562	blood:	n/a	chr20:29525179-29525188
3	JUND	chr20:29524784-29525532	K562	blood:	n/a	chr20:29524911-29524923 chr20:29524913-29524920 chr20:29524912-29524922 chr20:29524913-29524921 chr20:29524912-29524922 chr20:29524913-29524921
4	CTCF	chr20:29525094-29525262	GM12891	blood:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
5	CTCF	chr20:29525070-29525283	K562	blood:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
6	CTCF	chr20:29525120-29525270	HepG2	liver:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
7	CTCFL	chr20:29525045-29525281	K562	blood:	n/a	chr20:29525180-29525189
8	CTCF	chr20:29525140-29525290	BE2_C	brain:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
9	TBP	chr20:29525035-29525346	K562	blood:	n/a	n/a
10	BHLHE40	chr20:29525056-29525392	K562	blood:	n/a	n/a
11	ZNF384	chr20:29525103-29525292	K562	blood:	n/a	n/a
12	TRIM28	chr20:29524857-29525617	K562	blood:	n/a	chr20:29524911-29524920
13	ELF1	chr20:29524831-29525285	K562	blood:	n/a	n/a
14	CTCF	chr20:29525120-29525270	HCPEpiC	choroid plexus:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
15	IRF1	chr20:29525014-29525221	K562	blood:	n/a	n/a
16	CTCF	chr20:29525058-29525277	K562	blood:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
17	TEAD4	chr20:29524956-29525623	K562	blood:	n/a	n/a
18	UBTF	chr20:29524353-29525454	K562	blood:	n/a	n/a
19	CTCF	chr20:29525120-29525257	MCF-7	breast:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
20	MAX	chr20:29524990-29525296	K562	blood:	n/a	n/a
21	HMGN3	chr20:29525076-29525373	K562	blood:	n/a	n/a
22	SP1	chr20:29524941-29525490	K562	blood:	n/a	chr20:29525112-29525122 chr20:29525108-29525122 chr20:29525112-29525121 chr20:29525114-29525128
23	CTCF	chr20:29525080-29525230	BE2_C	brain:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
24	POLR2A	chr20:29524958-29525479	K562	blood:	n/a	n/a
25	RAD21	chr20:29525096-29525252	SK-N-SH_RA	brain:	n/a	chr20:29525180-29525190
26	EP300	chr20:29525042-29525554	K562	blood:	n/a	chr20:29525531-29525545
27	POLR2A	chr20:29524925-29525384	K562	blood:	n/a	n/a
28	CTCF	chr20:29525125-29525220	GM19238	blood:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
29	TBL1XR1	chr20:29525042-29525532	K562	blood:	n/a	n/a
30	CTCF	chr20:29524935-29525472	K562	blood:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
31	POLR2A	chr20:29524916-29525249	PANC-1	pancreas:	n/a	n/a
32	SMC3	chr20:29525033-29525218	K562	blood:	n/a	chr20:29525180-29525190
33	CTCF	chr20:29525120-29525270	K562	blood:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
34	TAF1	chr20:29525047-29525299	K562	blood:	n/a	n/a
35	CTCF	chr20:29525093-29525262	GM19240	blood:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
36	CTCF	chr20:29525120-29525270	NHLF	lung:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
37	MYC	chr20:29524954-29525520	K562	blood:	n/a	n/a
38	EGR1	chr20:29524966-29525501	K562	blood:	n/a	chr20:29525107-29525120
39	TEAD4	chr20:29525017-29525515	K562	blood:	n/a	n/a
40	PML	chr20:29525023-29525277	K562	blood:	n/a	n/a
41	CTCF	chr20:29525117-29525257	A549	lung:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
42	CTCF	chr20:29525094-29525257	GM10248	blood:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
43	HDAC2	chr20:29525029-29525487	K562	blood:	n/a	n/a
44	IRF1	chr20:29525049-29525346	K562	blood:	n/a	n/a
45	REST	chr20:29525050-29525260	K562	blood:	n/a	n/a
46	MAX	chr20:29524968-29525565	K562	blood:	n/a	n/a
47	CBX3	chr20:29524962-29525647	K562	blood:	n/a	n/a
48	CTCF	chr20:29525140-29525290	RPTEC	kidney:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
49	RAD21	chr20:29525042-29525233	K562	blood:	n/a	chr20:29525180-29525190
50	MYC	chr20:29524989-29525342	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000225490	TF binding region
ENSG00000205611	TF binding region

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10427434	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57943931	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	nsv1056924	chr20:29420340-29529915	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1061714	chr20:29420340-29560603	Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1059061	chr20:29420340-29598851	Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	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
9	esv2763660	chr20:29420352-29552211	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv585866	chr20:29425357-29558463	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv2756708	chr20:29444244-29609067	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1062061	chr20:29448943-29560603	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	esv1002752	chr20:29505919-29570446	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv436324	chr20:29508007-29536744	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv512608	chr20:29508738-29536138	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv3515439	chr20:29508921-29536159	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv3515440	chr20:29508938-29536132	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	esv3515442	chr20:29509063-29536054	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv9803	chr20:29510801-29535963	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv965869	chr20:29521699-29570138	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29521000-29534000	Weak transcription	Gastric	stomach
2	chr20:29521800-29525600	Active TSS	Duodenum Mucosa	Duodenum
3	chr20:29523200-29525600	Active TSS	Brain Germinal Matrix	brain
4	chr20:29523200-29525600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr20:29523600-29525600	Active TSS	Brain Anterior Caudate	brain
6	chr20:29523600-29525600	Active TSS	Thymus	Thymus
7	chr20:29523800-29525400	Active TSS	Brain Angular Gyrus	brain
8	chr20:29523800-29525400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr20:29523800-29525600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:29523800-29525600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr20:29523800-29525600	Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr20:29523800-29525600	Active TSS	Brain Hippocampus Middle	brain
13	chr20:29523800-29525600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr20:29523800-29525600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr20:29523800-29525600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr20:29523800-29525600	Active TSS	Stomach Mucosa	stomach
17	chr20:29523800-29525600	Active TSS	NH-A	brain
18	chr20:29524000-29525600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr20:29524000-29525600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr20:29524000-29525600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr20:29524000-29525600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr20:29524000-29525600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr20:29524000-29525800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr20:29524400-29525400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr20:29524400-29525400	Active TSS	Psoas Muscle	Psoas
26	chr20:29524400-29525400	Active TSS	Right Ventricle	heart
27	chr20:29524400-29525600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr20:29524400-29525600	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr20:29524400-29525600	Active TSS	Primary T cells from cord blood	blood
30	chr20:29524400-29525600	Active TSS	Adipose Nuclei	Adipose
31	chr20:29524400-29525600	Active TSS	Aorta	Aorta
32	chr20:29524400-29525600	Active TSS	Right Atrium	heart
33	chr20:29524600-29525600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr20:29524800-29525400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr20:29524800-29535000	Weak transcription	Pancreas	Pancrea
36	chr20:29525000-29525600	Active TSS	A549	lung
37	chr20:29525000-29528400	Weak transcription	Brain Substantia Nigra	brain
38	chr20:29525000-29535200	Weak transcription	Small Intestine	intestine
39	chr20:29525200-29525400	Active TSS	Primary B cells from peripheral blood	blood
40	chr20:29525200-29525400	Active TSS	Primary T cells fromperipheralblood	blood
41	chr20:29525200-29525400	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr20:29525200-29525400	Active TSS	Brain Cingulate Gyrus	brain
43	chr20:29525200-29525400	Active TSS	Dnd41	blood
44	chr20:29525200-29525600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr20:29525200-29525600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr20:29525200-29525600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr20:29525200-29525600	Enhancers	Stomach Smooth Muscle	stomach
48	chr20:29525200-29525600	Active TSS	K562	blood
49	chr20:29525200-29525800	Enhancers	Primary hematopoietic stem cells	blood
50	chr20:29525200-29525800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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