Variant report

Variant	rs6113957
Chromosome Location	chr20:23113589-23113590
allele	C/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	IRF1	chr20:23113128-23114704	K562	blood:	n/a	chr20:23113665-23113679 chr20:23113413-23113423
2	JUN	chr20:23112320-23114821	K562	blood:	n/a	n/a
3	STAT1	chr20:23113584-23114353	K562	blood:	n/a	chr20:23113721-23113730 chr20:23113754-23113763 chr20:23113722-23113731 chr20:23113719-23113733 chr20:23113755-23113764 chr20:23113752-23113766
4	GATA1	chr20:23112366-23114792	PBDE	blood:	n/a	chr20:23114421-23114428 chr20:23112798-23112808 chr20:23112795-23112811 chr20:23112799-23112806 chr20:23113821-23113838 chr20:23112799-23112808 chr20:23113832-23113839 chr20:23112799-23112806 chr20:23112792-23112813 chr20:23113830-23113840 chr20:23113830-23113839 chr20:23112799-23112806 chr20:23112800-23112817 chr20:23113829-23113841
5	MAFK	chr20:23113124-23114000	K562	blood:	n/a	n/a
6	SMC3	chr20:23113084-23113961	K562	blood:	n/a	n/a
7	POLR2A	chr20:23113521-23114066	HUVEC	blood vessel:	n/a	n/a
8	JUND	chr20:23112423-23114678	K562	blood:	n/a	n/a
9	STAT5A	chr20:23113462-23114080	K562	blood:	n/a	chr20:23113721-23113730 chr20:23113754-23113763 chr20:23113722-23113731 chr20:23113719-23113733 chr20:23113755-23113764 chr20:23113752-23113766
10	MAX	chr20:23113109-23114655	K562	blood:	n/a	n/a
11	ARID3A	chr20:23112529-23114612	K562	blood:	n/a	n/a
12	TAF7	chr20:23113562-23113887	K562	blood:	n/a	n/a
13	BHLHE40	chr20:23111853-23114625	K562	blood:	n/a	chr20:23112998-23113014
14	POLR2A	chr20:23113064-23114094	K562	blood:	n/a	n/a
15	EP300	chr20:23113188-23114477	K562	blood:	n/a	chr20:23113697-23113713
16	YY1	chr20:23113479-23113990	K562	blood:	n/a	n/a
17	TEAD4	chr20:23112263-23114654	K562	blood:	n/a	n/a
18	ATF1	chr20:23112449-23114574	K562	blood:	n/a	n/a
19	POLR2A	chr20:23112787-23114606	PBDE	blood:	n/a	n/a
20	STAT5A	chr20:23113175-23114094	K562	blood:	n/a	chr20:23113721-23113730 chr20:23113754-23113763 chr20:23113722-23113731 chr20:23113719-23113733 chr20:23113755-23113764 chr20:23113752-23113766
21	JUN	chr20:23112548-23114618	K562	blood:	n/a	n/a
22	MXI1	chr20:23113141-23113982	K562	blood:	n/a	n/a
23	EP300	chr20:23112414-23114689	K562	blood:	n/a	chr20:23114576-23114586 chr20:23113697-23113713
24	NR2F2	chr20:23113138-23114115	K562	blood:	n/a	n/a
25	MYC	chr20:23113023-23114674	K562	blood:	n/a	n/a
26	FOS	chr20:23113574-23113920	HUVEC	blood vessel:	n/a	n/a
27	CEBPD	chr20:23113406-23114086	K562	blood:	n/a	n/a
28	ATF3	chr20:23113543-23113965	K562	blood:	n/a	n/a
29	MYC	chr20:23112421-23114626	K562	blood:	n/a	n/a
30	JUN	chr20:23113130-23113990	K562	blood:	n/a	n/a
31	POLR2A	chr20:23112962-23114011	K562	blood:	n/a	n/a
32	ZNF143	chr20:23113543-23114040	K562	blood:	n/a	chr20:23113953-23113962
33	POLR2A	chr20:23112817-23114710	K562	blood:	n/a	n/a
34	CREB1	chr20:23112811-23114208	K562	blood:	n/a	n/a
35	GATA2	chr20:23113472-23114550	HUVEC	blood vessel:	n/a	chr20:23114421-23114428 chr20:23113821-23113838 chr20:23113832-23113839 chr20:23113830-23113840 chr20:23113830-23113839 chr20:23113829-23113843 chr20:23113829-23113841
36	TEAD4	chr20:23113055-23114641	K562	blood:	n/a	n/a
37	POLR2A	chr20:23113032-23114078	K562	blood:	n/a	n/a
38	E2F6	chr20:23112461-23113974	K562	blood:	n/a	chr20:23112999-23113009
39	ELK1	chr20:23113575-23113826	K562	blood:	n/a	n/a
40	TRIM28	chr20:23113061-23114057	K562	blood:	n/a	n/a
41	TBP	chr20:23113031-23114084	K562	blood:	n/a	n/a
42	MAZ	chr20:23113011-23114656	K562	blood:	n/a	n/a
43	GATA2	chr20:23113362-23114110	K562	blood:	n/a	chr20:23113821-23113838 chr20:23113832-23113839 chr20:23113830-23113840 chr20:23113830-23113839 chr20:23113829-23113843 chr20:23113829-23113841
44	POLR2A	chr20:23112432-23114614	K562	blood:	n/a	n/a
45	CEBPD	chr20:23113108-23114143	K562	blood:	n/a	n/a
46	POLR2A	chr20:23111365-23114617	K562	blood:	n/a	n/a
47	SMARCA4	chr20:23112905-23114641	K562	blood:	n/a	n/a
48	RCOR1	chr20:23112451-23114626	K562	blood:	n/a	n/a
49	UBTF	chr20:23112857-23114573	K562	blood:	n/a	n/a
50	ZMIZ1	chr20:23112457-23114587	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23112532..23115241-chr20:23342774..23344532,2	K562	blood:

Variant related genes	Relation type
LINC00656	TF binding region
ENSG00000125812	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11087414	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11697283	0.95[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs12710326	0.80[ASN][1000 genomes]
rs1884658	0.88[ASN][1000 genomes]
rs4813480	0.87[ASN][1000 genomes]
rs4815176	0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs55727610	0.85[ASN][1000 genomes]
rs6048561	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs6083011	0.95[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083014	0.91[CHB][hapmap];0.95[CHD][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs6083015	0.91[CHB][hapmap];0.95[CHD][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs6083016	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6113954	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6113960	0.90[ASN][1000 genomes]
rs6515302	0.89[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6515304	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7269464	0.91[ASN][1000 genomes]
rs755697	0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs8122415	0.91[CHB][hapmap]
rs844904	0.91[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6113957	CST9	cis	cerebellum	SCAN
rs6113957	RIN2	cis	parietal	SCAN
rs6113957	CST3	cis	lymphoblastoid	seeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23102000-23114000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr20:23106800-23114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr20:23106800-23116400	Weak transcription	Esophagus	oesophagus
5	chr20:23109000-23120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:23110400-23113600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:23110400-23121600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr20:23110600-23113800	Weak transcription	Fetal Heart	heart
9	chr20:23111000-23120400	Weak transcription	Pancreas	Pancrea
10	chr20:23111800-23114000	Enhancers	Lung	lung
11	chr20:23111800-23114600	Flanking Active TSS	K562	blood
12	chr20:23112000-23114800	Enhancers	Fetal Muscle Trunk	muscle
13	chr20:23112400-23114200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr20:23112400-23114600	Enhancers	Adipose Nuclei	Adipose
15	chr20:23112400-23114600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr20:23112400-23114600	Enhancers	Right Atrium	heart
17	chr20:23112400-23114800	Enhancers	Dnd41	blood
18	chr20:23112400-23114800	Enhancers	HUVEC	blood vessel
19	chr20:23112600-23113800	Enhancers	Fetal Intestine Large	intestine
20	chr20:23112600-23114200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr20:23112600-23114200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr20:23112600-23114600	Enhancers	Right Ventricle	heart
23	chr20:23112600-23114600	Enhancers	Spleen	Spleen
24	chr20:23112600-23114800	Enhancers	Fetal Muscle Leg	muscle
25	chr20:23112600-23116200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr20:23112600-23120600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr20:23112800-23114600	Enhancers	Left Ventricle	heart
28	chr20:23112800-23114600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr20:23113000-23113600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr20:23113000-23113600	Enhancers	Small Intestine	intestine
31	chr20:23113000-23114000	Enhancers	Psoas Muscle	Psoas
32	chr20:23113000-23114200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:23113000-23114600	Enhancers	Fetal Stomach	stomach
34	chr20:23113200-23114200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr20:23113200-23114200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr20:23113200-23114600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr20:23113200-23114600	Enhancers	Fetal Lung	lung
38	chr20:23113400-23114000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr20:23113400-23114000	Enhancers	Ovary	ovary

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