Variant report

Variant	rs141611672
Chromosome Location	chr20:1168233-1168234
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr20:1168231-1168893	K562	blood:	n/a	n/a
2	JUN	chr20:1167968-1168720	K562	blood:	n/a	n/a
3	TRIM28	chr20:1168126-1168526	K562	blood:	n/a	n/a
4	ELF1	chr20:1168103-1168609	K562	blood:	n/a	chr20:1168360-1168373
5	RCOR1	chr20:1167828-1168751	HepG2	liver:	n/a	n/a
6	GATA2	chr20:1168230-1169347	K562	blood:	n/a	n/a
7	TAL1	chr20:1168159-1168868	K562	blood:	n/a	n/a
8	MYC	chr20:1168143-1168876	K562	blood:	n/a	n/a
9	GATA1	chr20:1167588-1169589	K562	blood:	n/a	n/a
10	MAX	chr20:1168176-1168892	K562	blood:	n/a	n/a
11	UBTF	chr20:1168219-1168552	K562	blood:	n/a	n/a
12	EP300	chr20:1168155-1168843	K562	blood:	n/a	n/a
13	ZNF143	chr20:1168051-1168753	K562	blood:	n/a	n/a
14	CBX3	chr20:1168081-1168752	K562	blood:	n/a	n/a
15	ZC3H11A	chr20:1168147-1168726	K562	blood:	n/a	n/a
16	TEAD4	chr20:1168084-1168903	K562	blood:	n/a	n/a
17	TRIM28	chr20:1168099-1168831	K562	blood:	n/a	n/a
18	HCFC1	chr20:1168209-1168786	K562	blood:	n/a	n/a
19	TEAD4	chr20:1168150-1168843	K562	blood:	n/a	n/a
20	IRF1	chr20:1168228-1168818	K562	blood:	n/a	n/a
21	MAX	chr20:1168087-1168751	K562	blood:	n/a	n/a
22	POLR2A	chr20:1168171-1168724	K562	blood:	n/a	n/a
23	UBTF	chr20:1168152-1168686	K562	blood:	n/a	n/a
24	GATA2	chr20:1168133-1168901	K562	blood:	n/a	n/a
25	MXI1	chr20:1168231-1168837	HepG2	liver:	n/a	n/a
26	ARID3A	chr20:1168208-1169267	HepG2	liver:	n/a	n/a
27	MYC	chr20:1168124-1169153	K562	blood:	n/a	n/a
28	NR2F2	chr20:1168145-1168845	K562	blood:	n/a	n/a
29	EP300	chr20:1168131-1169161	K562	blood:	n/a	n/a
30	SPI1	chr20:1168180-1168645	K562	blood:	n/a	n/a
31	PML	chr20:1168202-1168782	K562	blood:	n/a	n/a
32	TBP	chr20:1168155-1168804	K562	blood:	n/a	n/a
33	BHLHE40	chr20:1168096-1168852	K562	blood:	n/a	n/a
34	CUX1	chr20:1168182-1168840	K562	blood:	n/a	n/a
35	TBL1XR1	chr20:1167814-1168947	K562	blood:	n/a	n/a
36	GATA1	chr20:1168146-1169077	PBDE	blood:	n/a	n/a
37	STAT5A	chr20:1168219-1168877	K562	blood:	n/a	n/a
38	KAP1	chr20:1168170-1168720	K562	blood:	n/a	n/a
39	MAX	chr20:1168205-1168467	K562	blood:	n/a	n/a
40	TCF7L2	chr20:1167891-1168361	HepG2	liver:	n/a	n/a
41	POLR2A	chr20:1166532-1168701	HepG2	liver:	n/a	n/a
42	YY1	chr20:1168161-1168527	K562	blood:	n/a	n/a
43	CEBPD	chr20:1168165-1168910	K562	blood:	n/a	n/a
44	ATF1	chr20:1168128-1168845	K562	blood:	n/a	n/a
45	JUND	chr20:1168114-1169104	K562	blood:	n/a	n/a
46	ZNF384	chr20:1168186-1168759	K562	blood:	n/a	n/a
47	JUN	chr20:1168029-1169366	K562	blood:	n/a	n/a
48	NR2F2	chr20:1168035-1168933	K562	blood:	n/a	n/a
49	MAFF	chr20:1167830-1168767	K562	blood:	n/a	n/a
50	TBL1XR1	chr20:1168121-1168778	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1167926..1170503-chr20:1170945..1173932,3	K562	blood:
2	chr20:1168079..1170501-chr20:1189390..1192354,2	K562	blood:

No data

Variant related genes	Relation type
TMEM74B	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	esv3372799	chr20:1167052-1171250	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1166000-1169000	Weak transcription	Gastric	stomach
2	chr20:1166400-1168400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
3	chr20:1166400-1169000	Weak transcription	Pancreas	Pancrea
4	chr20:1166400-1169000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr20:1166400-1169400	Enhancers	Lung	lung
6	chr20:1166600-1169200	Enhancers	Right Atrium	heart
7	chr20:1166800-1168600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr20:1166800-1169400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:1166800-1169400	Enhancers	Liver	Liver
10	chr20:1166800-1169400	Enhancers	Fetal Intestine Small	intestine
11	chr20:1167000-1168600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr20:1167000-1168600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
13	chr20:1167000-1169200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr20:1167000-1169400	Enhancers	Duodenum Mucosa	Duodenum
15	chr20:1167000-1169400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr20:1167000-1169400	Enhancers	Fetal Intestine Large	intestine
17	chr20:1167000-1169400	Enhancers	Stomach Mucosa	stomach
18	chr20:1167200-1169000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr20:1167400-1168600	Flanking Active TSS	HepG2	liver
20	chr20:1167400-1168800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr20:1167400-1169000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr20:1167400-1169000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr20:1167400-1169000	Enhancers	Fetal Lung	lung
24	chr20:1167400-1169200	Enhancers	Placenta	Placenta
25	chr20:1167600-1168600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr20:1167600-1169000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr20:1167600-1169000	Weak transcription	Right Ventricle	heart
28	chr20:1167800-1169000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr20:1167800-1169000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr20:1167800-1169000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr20:1168000-1168400	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr20:1168000-1168600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
33	chr20:1168000-1168600	Bivalent Enhancer	Fetal Kidney	kidney
34	chr20:1168000-1169400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr20:1168200-1168400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
36	chr20:1168200-1168400	Enhancers	Colon Smooth Muscle	Colon
37	chr20:1168200-1168400	Enhancers	Spleen	Spleen
38	chr20:1168200-1168600	Enhancers	K562	blood
39	chr20:1168200-1169000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr20:1168200-1169200	Enhancers	Left Ventricle	heart
41	chr20:1168200-1169200	Enhancers	Hela-S3	cervix
42	chr20:1168200-1169400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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