Variant report

Variant	rs12162453
Chromosome Location	chr20:29633277-29633278
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	ELK1	chr20:29633084-29633435	K562	blood:	n/a	n/a
2	EP300	chr20:29632668-29633444	K562	blood:	n/a	chr20:29633399-29633408
3	MXI1	chr20:29633219-29633355	K562	blood:	n/a	n/a
4	JUN	chr20:29633192-29633607	K562	blood:	n/a	n/a
5	KAP1	chr20:29632644-29633515	K562	blood:	n/a	n/a
6	UBTF	chr20:29633232-29633428	K562	blood:	n/a	n/a
7	BACH1	chr20:29633229-29633394	K562	blood:	n/a	n/a
8	MAFF	chr20:29633083-29633447	K562	blood:	n/a	n/a
9	CHD2	chr20:29633237-29633429	K562	blood:	n/a	n/a
10	TCF7L2	chr20:29632671-29633587	HepG2	liver:	n/a	n/a
11	ELK1	chr20:29633251-29633439	GM12878	blood:	n/a	n/a
12	UBTF	chr20:29633249-29633500	K562	blood:	n/a	n/a
13	ZNF274	chr20:29633226-29633436	GM12878	blood:	n/a	n/a
14	ARID3A	chr20:29633241-29633535	K562	blood:	n/a	n/a
15	TBL1XR1	chr20:29633219-29633428	K562	blood:	n/a	n/a
16	POLR2A	chr20:29633191-29633279	MCF10A-Er-Src	breast:	n/a	n/a
17	IRF1	chr20:29633237-29633439	K562	blood:	n/a	n/a
18	CUX1	chr20:29633071-29633425	K562	blood:	n/a	chr20:29633303-29633317
19	POLR2A	chr20:29632589-29633441	K562	blood:	n/a	n/a
20	TBL1XR1	chr20:29633261-29633402	GM12878	blood:	n/a	n/a
21	STAT5A	chr20:29632563-29633604	K562	blood:	n/a	n/a
22	RFX5	chr20:29632668-29633438	K562	blood:	n/a	n/a
23	CTCF	chr20:29633140-29633290	AG04449	skin:	n/a	n/a
24	MAZ	chr20:29633228-29633415	GM12878	blood:	n/a	n/a
25	STAT3	chr20:29632614-29633607	MCF10A-Er-Src	breast:	n/a	n/a
26	MAFK	chr20:29633240-29633417	K562	blood:	n/a	n/a
27	GTF2F1	chr20:29633249-29633435	K562	blood:	n/a	n/a
28	ATF1	chr20:29633094-29633439	K562	blood:	n/a	n/a
29	ZNF384	chr20:29633218-29633417	K562	blood:	n/a	n/a
30	ZNF384	chr20:29633216-29633418	GM12878	blood:	n/a	n/a
31	GATA3	chr20:29633080-29633438	SH-SY5Y	brain:	n/a	chr20:29633213-29633223
32	MAZ	chr20:29633224-29633451	HepG2	liver:	n/a	n/a
33	SP1	chr20:29633061-29633551	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000221319	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	nsv821487	chr20:29629343-29652652	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv828711	chr20:29629343-29652652	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv585874	chr20:29633277-29651821	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 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	chr20:29613600-29634200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr20:29613600-29634400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr20:29613600-29634600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr20:29622400-29634600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr20:29622600-29639000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr20:29623400-29634600	Weak transcription	Right Ventricle	heart
8	chr20:29625600-29639000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr20:29625800-29639000	ZNF genes & repeats	HepG2	liver
10	chr20:29626600-29640200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:29627800-29633400	ZNF genes & repeats	NHDF-Ad	bronchial
12	chr20:29628000-29639000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr20:29628400-29633600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr20:29628400-29638800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
15	chr20:29628400-29639000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr20:29628600-29637200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
17	chr20:29629000-29634400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr20:29629000-29634600	Strong transcription	K562	blood
19	chr20:29630200-29634400	Weak transcription	Fetal Intestine Large	intestine
20	chr20:29630400-29634400	Weak transcription	Right Atrium	heart
21	chr20:29630600-29633400	ZNF genes & repeats	HSMM	muscle
22	chr20:29630600-29633600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
23	chr20:29630600-29638800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
24	chr20:29630600-29639000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr20:29631000-29634400	Weak transcription	Left Ventricle	heart
26	chr20:29631000-29634600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr20:29631200-29634200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr20:29631200-29634200	Weak transcription	Brain Angular Gyrus	brain
29	chr20:29631200-29634200	Weak transcription	NH-A	brain
30	chr20:29631200-29634400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr20:29631200-29634600	Weak transcription	Brain Hippocampus Middle	brain
32	chr20:29631200-29634600	Weak transcription	Colon Smooth Muscle	Colon
33	chr20:29631200-29634600	Weak transcription	Stomach Mucosa	stomach
34	chr20:29631800-29633400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr20:29631800-29639000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr20:29632000-29633400	Strong transcription	Liver	Liver
37	chr20:29632000-29634200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr20:29632000-29634200	Weak transcription	Adipose Nuclei	Adipose
39	chr20:29632000-29634400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr20:29632000-29634400	Weak transcription	Lung	lung
41	chr20:29632000-29634600	Weak transcription	HSMMtube	muscle
42	chr20:29632200-29634000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr20:29632200-29634000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr20:29632200-29634200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr20:29632200-29634200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr20:29632200-29634400	Weak transcription	Ovary	ovary
47	chr20:29632200-29634400	Weak transcription	Pancreas	Pancrea
48	chr20:29632200-29634400	Weak transcription	Small Intestine	intestine
49	chr20:29632200-29634400	Weak transcription	Thymus	Thymus
50	chr20:29632200-29634400	Weak transcription	Spleen	Spleen

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