Variant report

Variant	rs219789
Chromosome Location	chr21:37829040-37829041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37826859..37829532-chr21:37843976..37845773,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11088346	1.00[CHD][hapmap]
rs219769	0.82[CEU][hapmap]
rs219770	0.82[CEU][hapmap]
rs219775	0.87[CEU][hapmap]
rs219776	0.83[CEU][hapmap]
rs219777	0.87[CEU][hapmap]
rs219778	0.84[CEU][hapmap]
rs219779	0.83[CEU][hapmap]
rs219780	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs219781	0.84[CEU][hapmap]
rs219783	0.80[EUR][1000 genomes]
rs219784	0.83[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs219785	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs219786	0.96[EUR][1000 genomes]
rs219788	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs219793	0.87[EUR][1000 genomes]
rs2244034	0.94[CEU][hapmap];1.00[CHD][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs2633331	0.82[EUR][1000 genomes]
rs2835342	1.00[CHD][hapmap]
rs2835363	0.83[CEU][hapmap]
rs2850082	0.82[EUR][1000 genomes]
rs8596	1.00[CHD][hapmap]

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	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv33286	chr21:37827016-37861556	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs219789	DSCR6	cis	cerebellum	SCAN
rs219789	FAM165B	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37804000-37831600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr21:37804000-37831600	Weak transcription	HSMMtube	muscle
3	chr21:37810400-37833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:37810600-37829200	Weak transcription	HSMM	muscle
5	chr21:37810600-37829400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:37819400-37831400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr21:37824800-37836800	Weak transcription	Right Atrium	heart
8	chr21:37825000-37829400	Weak transcription	Adipose Nuclei	Adipose
9	chr21:37825800-37833600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr21:37827000-37831800	Weak transcription	Spleen	Spleen
11	chr21:37827200-37834000	Weak transcription	A549	lung
12	chr21:37827200-37837200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr21:37827400-37831400	Weak transcription	Fetal Muscle Leg	muscle
14	chr21:37827400-37834000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr21:37827400-37836400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr21:37827400-37836800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr21:37827600-37831800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:37827600-37831800	Weak transcription	Fetal Lung	lung
19	chr21:37827600-37832000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr21:37827600-37834200	Weak transcription	Fetal Kidney	kidney
21	chr21:37827600-37834600	Weak transcription	Brain Anterior Caudate	brain
22	chr21:37827800-37831800	Weak transcription	Lung	lung
23	chr21:37827800-37834400	Weak transcription	Ovary	ovary
24	chr21:37828000-37831400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:37828200-37830200	Enhancers	HUVEC	blood vessel
26	chr21:37828400-37829400	Weak transcription	Pancreas	Pancrea
27	chr21:37828600-37829600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr21:37828600-37831400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr21:37828800-37829600	Enhancers	Osteobl	bone
30	chr21:37828800-37829800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr21:37828800-37829800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr21:37829000-37829200	Enhancers	Primary hematopoietic stem cells	blood
33	chr21:37829000-37829600	Enhancers	NH-A	brain

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