Variant report

Variant	rs7283339
Chromosome Location	chr21:46118482-46118483
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	MAX	chr21:46117399-46118498	HepG2	liver:	n/a	n/a

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

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11088959	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1123949	0.92[ASN][1000 genomes]
rs1126379	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1126380	0.92[ASN][1000 genomes]
rs1126381	0.92[ASN][1000 genomes]
rs1126382	0.92[ASN][1000 genomes]
rs13049613	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1883043	0.90[ASN][1000 genomes]
rs2094882	0.82[ASN][1000 genomes]
rs2150437	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2210285	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2210286	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2329893	0.92[ASN][1000 genomes]
rs2329894	0.92[ASN][1000 genomes]
rs2838629	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2838631	0.92[ASN][1000 genomes]
rs2838636	0.90[ASN][1000 genomes]
rs2838637	0.90[ASN][1000 genomes]
rs2838638	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838640	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838651	0.82[ASN][1000 genomes]
rs2876985	0.92[ASN][1000 genomes]
rs3885809	0.86[ASN][1000 genomes]
rs4256045	0.86[ASN][1000 genomes]
rs4434080	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4476431	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4818957	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818958	0.92[ASN][1000 genomes]
rs4818961	0.92[ASN][1000 genomes]
rs4818963	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4818964	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5013900	0.92[ASN][1000 genomes]
rs5013901	0.92[ASN][1000 genomes]
rs5013902	0.92[ASN][1000 genomes]
rs5013903	0.92[ASN][1000 genomes]
rs5013904	0.92[ASN][1000 genomes]
rs5013905	0.92[ASN][1000 genomes]
rs5013906	0.92[ASN][1000 genomes]
rs6518198	0.92[ASN][1000 genomes]
rs6518199	0.92[ASN][1000 genomes]
rs6518200	0.92[ASN][1000 genomes]
rs7278629	0.90[AFR][1000 genomes]
rs7280843	0.83[ASN][1000 genomes]
rs8126793	0.92[ASN][1000 genomes]
rs8127010	0.92[ASN][1000 genomes]
rs8127265	0.92[ASN][1000 genomes]
rs8129342	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8129858	0.92[ASN][1000 genomes]
rs8130344	0.80[ASN][1000 genomes]
rs8132352	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8132832	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8134266	0.92[ASN][1000 genomes]
rs926195	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9974804	0.86[ASN][1000 genomes]
rs9982962	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9984538	0.83[EUR][1000 genomes];0.91[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:29 , 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	chr21:46117200-46118800	Flanking Active TSS	HepG2	liver
9	chr21:46117400-46118600	Enhancers	HSMMtube	muscle
10	chr21:46117600-46118600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr21:46117600-46118600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:46117600-46118800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:46117600-46118800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:46117600-46118800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr21:46117600-46118800	Bivalent Enhancer	Fetal Stomach	stomach
16	chr21:46117800-46118600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr21:46117800-46118600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr21:46117800-46118800	Bivalent Enhancer	Fetal Intestine Large	intestine
19	chr21:46117800-46118800	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr21:46117800-46118800	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr21:46118000-46118600	ZNF genes & repeats	Spleen	Spleen
22	chr21:46118200-46118600	Flanking Active TSS	HSMM	muscle
23	chr21:46118200-46119600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:46118200-46120600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr21:46118400-46118600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr21:46118400-46118600	Bivalent Enhancer	Right Ventricle	heart
27	chr21:46118400-46121600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr21:46118400-46123200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr21:46118400-46123400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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