Variant report

Variant	rs9984538
Chromosome Location	chr21:46118293-46118294
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	HNF4G	chr21:46118053-46118351	HepG2	liver:	n/a	chr21:46118191-46118204 chr21:46118191-46118206 chr21:46118190-46118205 chr21:46118190-46118205 chr21:46118192-46118204 chr21:46118191-46118205 chr21:46118192-46118204 chr21:46118190-46118205 chr21:46118187-46118209
2	HEY1	chr21:46118110-46118350	HepG2	liver:	n/a	n/a
3	TEAD4	chr21:46117878-46118318	H1-hESC	embryonic stem cell:	n/a	chr21:46118083-46118092
4	MAFK	chr21:46118148-46118317	HepG2	liver:	n/a	chr21:46118226-46118237 chr21:46118226-46118241 chr21:46118225-46118239 chr21:46118226-46118237 chr21:46118226-46118242
5	MAFF	chr21:46118151-46118351	HepG2	liver:	n/a	n/a
6	MYBL2	chr21:46117870-46118336	HepG2	liver:	n/a	n/a
7	ARID3A	chr21:46118154-46118380	HepG2	liver:	n/a	n/a
8	HNF4A	chr21:46117964-46118407	HepG2	liver:	n/a	chr21:46118191-46118204 chr21:46118190-46118205 chr21:46118190-46118205 chr21:46118190-46118205 chr21:46118192-46118204 chr21:46118191-46118205 chr21:46118192-46118204 chr21:46118190-46118205 chr21:46118187-46118209
9	RAD21	chr21:46117818-46118356	H1-hESC	embryonic stem cell:	n/a	n/a
10	FOSL2	chr21:46117995-46118397	HepG2	liver:	n/a	chr21:46118211-46118218 chr21:46118218-46118230 chr21:46118210-46118218
11	MAFK	chr21:46118117-46118318	HepG2	liver:	n/a	chr21:46118226-46118237 chr21:46118226-46118241 chr21:46118225-46118239 chr21:46118226-46118237 chr21:46118226-46118242
12	HNF4A	chr21:46117951-46118364	HepG2	liver:	n/a	chr21:46118191-46118204 chr21:46118190-46118205 chr21:46118190-46118205 chr21:46118190-46118205 chr21:46118192-46118204 chr21:46118191-46118205 chr21:46118192-46118204 chr21:46118190-46118205 chr21:46118187-46118209
13	TEAD4	chr21:46117915-46118450	HepG2	liver:	n/a	chr21:46118083-46118092
14	POLR2A	chr21:46118091-46118332	HepG2	liver:	n/a	n/a
15	POLR2A	chr21:46118051-46118342	HepG2	liver:	n/a	n/a
16	POLR2A	chr21:46118055-46118397	HepG2	liver:	n/a	n/a
17	MAX	chr21:46117399-46118498	HepG2	liver:	n/a	n/a
18	TEAD4	chr21:46117914-46118318	ECC-1	luminal epithelium:	n/a	chr21:46118083-46118092
19	TEAD4	chr21:46117900-46118349	H1-hESC	embryonic stem cell:	n/a	chr21:46118083-46118092
20	RAD21	chr21:46118137-46118336	HepG2	liver:	n/a	n/a
21	RCOR1	chr21:46117941-46118390	HepG2	liver:	n/a	n/a
22	MAX	chr21:46118142-46118342	HepG2	liver:	n/a	n/a
23	POLR2A	chr21:46118053-46118387	HepG2	liver:	n/a	n/a
24	HDAC2	chr21:46118001-46118403	HepG2	liver:	n/a	n/a
25	JUND	chr21:46118082-46118342	HepG2	liver:	n/a	chr21:46118211-46118218 chr21:46118218-46118230 chr21:46118210-46118218
26	HEY1	chr21:46117992-46118445	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
KRTAP10-13P	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11088959	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1123949	0.89[ASN][1000 genomes]
rs1126379	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1126380	0.89[ASN][1000 genomes]
rs1126381	0.89[ASN][1000 genomes]
rs1126382	0.89[ASN][1000 genomes]
rs13049613	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1883043	0.87[ASN][1000 genomes]
rs2150437	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2210285	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2210286	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2329893	0.88[ASN][1000 genomes]
rs2329894	0.88[ASN][1000 genomes]
rs2838629	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2838631	0.89[ASN][1000 genomes]
rs2838636	0.86[ASN][1000 genomes]
rs2838637	0.87[ASN][1000 genomes]
rs2838638	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2838640	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2876985	0.88[ASN][1000 genomes]
rs3885809	0.83[ASN][1000 genomes]
rs4256045	0.83[ASN][1000 genomes]
rs4434080	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4476431	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818957	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818958	0.89[ASN][1000 genomes]
rs4818961	0.89[ASN][1000 genomes]
rs4818963	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818964	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5013900	0.88[ASN][1000 genomes]
rs5013901	0.88[ASN][1000 genomes]
rs5013902	0.88[ASN][1000 genomes]
rs5013903	0.88[ASN][1000 genomes]
rs5013904	0.88[ASN][1000 genomes]
rs5013905	0.89[ASN][1000 genomes]
rs5013906	0.89[ASN][1000 genomes]
rs6518198	0.89[ASN][1000 genomes]
rs6518199	0.89[ASN][1000 genomes]
rs6518200	0.88[ASN][1000 genomes]
rs7283339	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8126793	0.89[ASN][1000 genomes]
rs8127010	0.88[ASN][1000 genomes]
rs8127265	0.89[ASN][1000 genomes]
rs8129342	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8129858	0.89[ASN][1000 genomes]
rs8132352	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8132832	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8134266	0.89[ASN][1000 genomes]
rs926195	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9974804	0.83[ASN][1000 genomes]
rs9982962	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46101000-46122200	Weak transcription	Right Atrium	heart
2	chr21:46114400-46124400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:46116200-46118600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:46116400-46120400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr21:46116400-46121800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:46116600-46120400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:46116600-46121000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:46116800-46118400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr21:46116800-46118400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr21:46117200-46118800	Flanking Active TSS	HepG2	liver
11	chr21:46117400-46118400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr21:46117400-46118600	Enhancers	HSMMtube	muscle
13	chr21:46117600-46118400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr21:46117600-46118400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr21:46117600-46118400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr21:46117600-46118400	Bivalent Enhancer	Placenta	Placenta
17	chr21:46117600-46118600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr21:46117600-46118600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:46117600-46118800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:46117600-46118800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:46117600-46118800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr21:46117600-46118800	Bivalent Enhancer	Fetal Stomach	stomach
23	chr21:46117800-46118400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:46117800-46118400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr21:46117800-46118400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr21:46117800-46118400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr21:46117800-46118600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
28	chr21:46117800-46118600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr21:46117800-46118800	Bivalent Enhancer	Fetal Intestine Large	intestine
30	chr21:46117800-46118800	Bivalent Enhancer	Fetal Intestine Small	intestine
31	chr21:46117800-46118800	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr21:46118000-46118400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr21:46118000-46118600	ZNF genes & repeats	Spleen	Spleen
34	chr21:46118200-46118600	Flanking Active TSS	HSMM	muscle
35	chr21:46118200-46119600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:46118200-46120600	Enhancers	HUES6 Cell Line	embryonic stem cell

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