Variant report

Variant	rs2838643
Chromosome Location	chr21:46118197-46118198
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	CTCF	chr21:46118120-46118270	Caco-2	colon:	n/a	n/a
3	HEY1	chr21:46118110-46118350	HepG2	liver:	n/a	n/a
4	TEAD4	chr21:46117878-46118318	H1-hESC	embryonic stem cell:	n/a	chr21:46118083-46118092
5	MAFK	chr21:46118148-46118317	HepG2	liver:	n/a	chr21:46118226-46118237 chr21:46118226-46118241 chr21:46118225-46118239 chr21:46118226-46118237 chr21:46118226-46118242
6	MAFF	chr21:46118151-46118351	HepG2	liver:	n/a	n/a
7	MYBL2	chr21:46117870-46118336	HepG2	liver:	n/a	n/a
8	ARID3A	chr21:46118154-46118380	HepG2	liver:	n/a	n/a
9	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
10	RAD21	chr21:46117818-46118356	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr21:46118080-46118230	HepG2	liver:	n/a	n/a
12	FOSL2	chr21:46117995-46118397	HepG2	liver:	n/a	chr21:46118211-46118218 chr21:46118218-46118230 chr21:46118210-46118218
13	MAFK	chr21:46118117-46118318	HepG2	liver:	n/a	chr21:46118226-46118237 chr21:46118226-46118241 chr21:46118225-46118239 chr21:46118226-46118237 chr21:46118226-46118242
14	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
15	TEAD4	chr21:46117915-46118450	HepG2	liver:	n/a	chr21:46118083-46118092
16	POLR2A	chr21:46118091-46118332	HepG2	liver:	n/a	n/a
17	POLR2A	chr21:46118051-46118342	HepG2	liver:	n/a	n/a
18	POLR2A	chr21:46118055-46118397	HepG2	liver:	n/a	n/a
19	MAX	chr21:46117399-46118498	HepG2	liver:	n/a	n/a
20	TEAD4	chr21:46117914-46118318	ECC-1	luminal epithelium:	n/a	chr21:46118083-46118092
21	MAX	chr21:46117668-46118250	H1-hESC	embryonic stem cell:	n/a	n/a
22	TEAD4	chr21:46117900-46118349	H1-hESC	embryonic stem cell:	n/a	chr21:46118083-46118092
23	RAD21	chr21:46118137-46118336	HepG2	liver:	n/a	n/a
24	RCOR1	chr21:46117941-46118390	HepG2	liver:	n/a	n/a
25	MAX	chr21:46118142-46118342	HepG2	liver:	n/a	n/a
26	POLR2A	chr21:46118053-46118387	HepG2	liver:	n/a	n/a
27	HDAC2	chr21:46118001-46118403	HepG2	liver:	n/a	n/a
28	JUND	chr21:46118082-46118342	HepG2	liver:	n/a	chr21:46118211-46118218 chr21:46118218-46118230 chr21:46118210-46118218
29	HEY1	chr21:46117992-46118445	HepG2	liver:	n/a	n/a

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1108261	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13048736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13050276	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13051842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1467385	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2329895	0.90[ASN][1000 genomes]
rs2838642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838647	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34103049	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34163868	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34538966	0.84[AMR][1000 genomes]
rs34800343	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4818965	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71317705	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8132257	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs878551	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs998421	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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:39 , 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	chr21:46117400-46118200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:46117400-46118200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr21:46117400-46118400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr21:46117400-46118600	Enhancers	HSMMtube	muscle
15	chr21:46117600-46118200	Enhancers	HSMM	muscle
16	chr21:46117600-46118400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr21:46117600-46118400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr21:46117600-46118400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr21:46117600-46118400	Bivalent Enhancer	Placenta	Placenta
20	chr21:46117600-46118600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr21:46117600-46118600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:46117600-46118800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:46117600-46118800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:46117600-46118800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr21:46117600-46118800	Bivalent Enhancer	Fetal Stomach	stomach
26	chr21:46117800-46118200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:46117800-46118200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr21:46117800-46118400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr21:46117800-46118400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:46117800-46118400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr21:46117800-46118400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr21:46117800-46118600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
33	chr21:46117800-46118600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr21:46117800-46118800	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr21:46117800-46118800	Bivalent Enhancer	Fetal Intestine Small	intestine
36	chr21:46117800-46118800	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr21:46118000-46118200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr21:46118000-46118400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr21:46118000-46118600	ZNF genes & repeats	Spleen	Spleen

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