Variant report

Variant	rs17004594
Chromosome Location	chr21:45068644-45068645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44935626..44937329-chr21:45067508..45070010,2	MCF-7	breast:
2	chr21:41756818..41759414-chr21:45066798..45069587,2	MCF-7	breast:
3	chr21:44535415..44538259-chr21:45066773..45069521,2	MCF-7	breast:
4	chr21:44844308..44847193-chr21:45063897..45069393,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232777	Chromatin interaction
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10427514	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10483077	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs10483078	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11089090	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11908919	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs11909195	0.83[AMR][1000 genomes]
rs11909530	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs11909813	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs11909916	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11911293	0.92[YRI][hapmap];0.91[AMR][1000 genomes]
rs11911735	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs11911856	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs12626631	0.85[YRI][hapmap]
rs17004507	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004581	0.91[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004585	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004586	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004587	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004589	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004590	0.91[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004592	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004593	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004595	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004596	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28431406	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28782771	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28852206	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7510543	0.83[AMR][1000 genomes]
rs9917493	1.00[AFR][1000 genomes];1.00[AMR][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	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45060400-45078600	Weak transcription	Pancreas	Pancrea
2	chr21:45065400-45074400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:45065800-45078600	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:45066200-45075200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr21:45066200-45077600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr21:45066600-45074400	Weak transcription	Hela-S3	cervix
7	chr21:45066600-45077400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr21:45066600-45078200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:45066600-45078800	Weak transcription	Brain Hippocampus Middle	brain
10	chr21:45066600-45078800	Weak transcription	Right Atrium	heart
11	chr21:45066600-45079000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr21:45066600-45079000	Weak transcription	Brain Substantia Nigra	brain
13	chr21:45066800-45078800	Weak transcription	Fetal Intestine Small	intestine
14	chr21:45067000-45077800	Weak transcription	Dnd41	blood
15	chr21:45067000-45078600	Weak transcription	HepG2	liver
16	chr21:45068400-45074600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:45068400-45077600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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