Variant report

Variant	rs4635593
Chromosome Location	chr20:29524163-29524164
allele	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	POLR2A	chr20:29523675-29524326	GM12878	blood:	n/a	n/a
2	ZNF384	chr20:29523892-29524164	K562	blood:	n/a	n/a
3	POU2F2	chr20:29523622-29524502	GM12878	blood:	n/a	chr20:29524233-29524244 chr20:29524233-29524243 chr20:29524233-29524244
4	POLR2A	chr20:29523721-29524443	GM12891	blood:	n/a	n/a
5	POLR2A	chr20:29523600-29524608	GM12878	blood:	n/a	n/a
6	SIX5	chr20:29524129-29524386	K562	blood:	n/a	n/a
7	POLR2A	chr20:29523710-29524512	GM12891	blood:	n/a	n/a
8	POU2F2	chr20:29523652-29524500	GM12891	blood:	n/a	chr20:29524233-29524244 chr20:29524233-29524243 chr20:29524233-29524244
9	HEY1	chr20:29523587-29525622	K562	blood:	n/a	chr20:29525347-29525362
10	POLR2A	chr20:29523748-29525501	K562	blood:	n/a	n/a
11	POLR2A	chr20:29523647-29524571	GM12891	blood:	n/a	n/a
12	POLR2A	chr20:29523594-29524667	GM12891	blood:	n/a	n/a
13	SP1	chr20:29523670-29524312	GM12878	blood:	n/a	n/a
14	PAX5	chr20:29523630-29524386	GM12878	blood:	n/a	n/a
15	HEY1	chr20:29523665-29525260	K562	blood:	n/a	n/a
16	POU2F2	chr20:29524037-29524314	GM12878	blood:	n/a	chr20:29524233-29524244 chr20:29524233-29524243 chr20:29524233-29524244
17	IRF4	chr20:29523641-29524306	GM12878	blood:	n/a	n/a
18	POU2F2	chr20:29523599-29524624	GM12891	blood:	n/a	chr20:29524233-29524244 chr20:29524233-29524243 chr20:29524233-29524244
19	IRF1	chr20:29523837-29524172	K562	blood:	n/a	chr20:29524025-29524036 chr20:29524021-29524038 chr20:29524027-29524037 chr20:29524025-29524045 chr20:29524033-29524043 chr20:29524027-29524041 chr20:29524026-29524040 chr20:29524026-29524037 chr20:29524023-29524040 chr20:29524029-29524043 chr20:29524026-29524039 chr20:29524023-29524037 chr20:29524026-29524039 chr20:29524033-29524047 chr20:29524031-29524042 chr20:29524026-29524039

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:29523038..29524935-chr20:29609973..29612060,2	K562	blood:

Variant related genes	Relation type
ENSG00000225490	TF binding region
ENSG00000205611	TF binding region
ENSG00000149531	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1923053	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34502645	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4086502	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56247016	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57324476	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57835703	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60117194	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60992006	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6118871	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6118963	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6118966	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6118968	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6118980	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6118981	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6118986	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6118990	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6118991	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6118993	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6118994	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6119221	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6119222	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66625798	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7363257	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7363794	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8120246	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29519000-29524200	Weak transcription	Small Intestine	intestine
2	chr20:29519000-29524400	Weak transcription	Primary T cells from cord blood	blood
3	chr20:29519000-29524400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr20:29519000-29524400	Weak transcription	Aorta	Aorta
5	chr20:29519000-29524800	Weak transcription	Primary B cells from cord blood	blood
6	chr20:29519200-29524200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr20:29519200-29524200	Weak transcription	HSMMtube	muscle
8	chr20:29519400-29524200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr20:29519400-29525000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr20:29519600-29524600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr20:29520600-29524200	Weak transcription	Esophagus	oesophagus
12	chr20:29521000-29534000	Weak transcription	Gastric	stomach
13	chr20:29521200-29524400	Weak transcription	Pancreas	Pancrea
14	chr20:29521800-29525600	Active TSS	Duodenum Mucosa	Duodenum
15	chr20:29523200-29524400	Active TSS	Primary hematopoietic stem cells	blood
16	chr20:29523200-29525000	Active TSS	Stomach Smooth Muscle	stomach
17	chr20:29523200-29525200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr20:29523200-29525200	Active TSS	Rectal Smooth Muscle	rectum
19	chr20:29523200-29525600	Active TSS	Brain Germinal Matrix	brain
20	chr20:29523200-29525600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr20:29523400-29524400	Weak transcription	Right Atrium	heart
22	chr20:29523600-29524200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr20:29523600-29524600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr20:29523600-29525000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr20:29523600-29525600	Active TSS	Brain Anterior Caudate	brain
26	chr20:29523600-29525600	Active TSS	Thymus	Thymus
27	chr20:29523800-29524400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr20:29523800-29524400	Weak transcription	Adipose Nuclei	Adipose
29	chr20:29523800-29524400	Weak transcription	NHLF	lung
30	chr20:29523800-29524600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr20:29523800-29524800	Active TSS	K562	blood
32	chr20:29523800-29525000	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr20:29523800-29525000	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr20:29523800-29525000	Active TSS	Brain Cingulate Gyrus	brain
35	chr20:29523800-29525000	Active TSS	Left Ventricle	heart
36	chr20:29523800-29525000	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr20:29523800-29525200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr20:29523800-29525200	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr20:29523800-29525200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr20:29523800-29525200	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr20:29523800-29525200	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr20:29523800-29525200	Active TSS	Osteobl	bone
43	chr20:29523800-29525400	Active TSS	Brain Angular Gyrus	brain
44	chr20:29523800-29525400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr20:29523800-29525600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr20:29523800-29525600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr20:29523800-29525600	Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr20:29523800-29525600	Active TSS	Brain Hippocampus Middle	brain
49	chr20:29523800-29525600	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr20:29523800-29525600	Active TSS	Pancreatic Islets	Pancreatic Islet

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