Variant report

Variant	rs219780
Chromosome Location	chr21:37833307-37833308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:37831208..37834228-chr21:37836709..37839908,3	MCF-7	breast:
2	chr21:37807939..37809702-chr21:37831962..37833487,2	MCF-7	breast:
3	chr21:37821099..37823925-chr21:37832721..37834954,2	K562	blood:
4	chr21:37801180..37804011-chr21:37832041..37834948,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230479	Chromatin interaction
ENSG00000159261	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs219769	0.81[CEU][hapmap]
rs219770	0.81[CEU][hapmap]
rs219771	0.81[CEU][hapmap]
rs219773	0.81[CEU][hapmap]
rs219774	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs219775	0.87[CEU][hapmap]
rs219777	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs219779	0.81[CEU][hapmap]
rs219783	0.82[EUR][1000 genomes]
rs219784	0.85[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs219785	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs219786	0.98[EUR][1000 genomes]
rs219788	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs219789	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs219793	0.85[EUR][1000 genomes]
rs2244034	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs2633331	0.80[EUR][1000 genomes]
rs2835363	0.81[CEU][hapmap]
rs2850082	0.80[EUR][1000 genomes]

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

Variant related diseases (count:1)

Disease	PMID	Source
Kidney stones	19561606	GWAS catalog

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37810400-37833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr21:37824800-37836800	Weak transcription	Right Atrium	heart
3	chr21:37825800-37833600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr21:37827200-37834000	Weak transcription	A549	lung
5	chr21:37827200-37837200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:37827400-37834000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr21:37827400-37836400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr21:37827400-37836800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:37827600-37834200	Weak transcription	Fetal Kidney	kidney
10	chr21:37827600-37834600	Weak transcription	Brain Anterior Caudate	brain
11	chr21:37827800-37834400	Weak transcription	Ovary	ovary
12	chr21:37829400-37833600	Weak transcription	Esophagus	oesophagus
13	chr21:37829800-37833600	Weak transcription	Gastric	stomach
14	chr21:37830000-37833800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:37832000-37833800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr21:37832200-37833600	Weak transcription	Spleen	Spleen
17	chr21:37832200-37834000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr21:37832200-37836200	Weak transcription	HUVEC	blood vessel
19	chr21:37832600-37833400	Weak transcription	Fetal Lung	lung
20	chr21:37832800-37837000	Weak transcription	HSMMtube	muscle
21	chr21:37832800-37837200	Weak transcription	NH-A	brain
22	chr21:37833000-37833400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:37833000-37833800	Weak transcription	Lung	lung
24	chr21:37833000-37837400	Weak transcription	Osteobl	bone
25	chr21:37833200-37834000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:37833200-37834000	Flanking Active TSS	Pancreas	Pancrea
27	chr21:37833200-37835800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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