Variant report

Variant	rs2837030
Chromosome Location	chr21:40801021-40801022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40799991..40802361-chr21:40807236..40811394,3	MCF-7	breast:
2	chr21:40794358..40796742-chr21:40799871..40801993,3	MCF-7	breast:
3	chr21:40791860..40795258-chr21:40800068..40803211,4	K562	blood:
4	chr21:40718117..40722604-chr21:40800285..40803152,4	K562	blood:
5	chr21:40795284..40797776-chr21:40798608..40802511,3	K562	blood:
6	chr21:40760590..40763335-chr21:40800736..40802529,2	K562	blood:
7	chr21:40800116..40802106-chr21:40821087..40823692,2	K562	blood:
8	chr21:40799941..40802147-chr21:40813676..40816627,2	MCF-7	breast:
9	chr21:40751998..40754601-chr21:40800245..40802861,2	K562	blood:
10	chr21:40800116..40802952-chr21:40820049..40823692,3	K562	blood:
11	chr21:40751998..40756014-chr21:40800245..40803253,3	K562	blood:
12	chr21:40796565..40799917-chr21:40800105..40803667,5	K562	blood:
13	chr21:40800882..40803101-chr21:40814563..40818422,4	K562	blood:
14	chr21:40800882..40802923-chr21:40814563..40817475,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185437	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000157578	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11575939	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16997618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063998	0.86[YRI][hapmap]
rs2065313	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2205200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2205201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2223028	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2246078	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410128	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837009	0.92[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2837015	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2837017	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.80[MEX][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2837018	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837020	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2837021	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837022	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2837023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837029	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837031	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837034	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837037	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837039	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2840267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4281987	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56812456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56866897	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58900137	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596289	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs61342945	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7275686	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7276575	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7276981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7277627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7279753	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73365952	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73367928	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367958	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367962	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367974	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367976	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73906032	0.81[ASN][1000 genomes]
rs73906033	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73906034	0.81[ASN][1000 genomes]
rs940625	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9680443	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs2837030	SH3BGR	cis	Skin Sun Exposed Lower leg	GTEx
rs2837030	LCA5L	cis	Artery Tibial	GTEx
rs2837030	SIM2	cis	parietal	SCAN
rs2837030	BRWD1	cis	parietal	SCAN
rs2837030	LCA5L	cis	Skin Sun Exposed Lower leg	GTEx
rs2837030	WRB	cis	parietal	SCAN
rs2837030	LCA5L	cis	Esophagus Muscularis	GTEx
rs2837030	LCA5L	cis	Nerve Tibial	GTEx
rs2837030	SH3BGR	cis	lymphoblastoid	seeQTL
rs2837030	IGSF5	cis	parietal	SCAN
rs2837030	WRB	cis	Adipose Subcutaneous	GTEx
rs2837030	LCA5L	cis	Artery Aorta	GTEx
rs2837030	WRB	cis	Skin Sun Exposed Lower leg	GTEx
rs2837030	WRB	cis	cerebellum	SCAN
rs2837030	WRB	cis	Nerve Tibial	GTEx
rs2837030	WRB	cis	Artery Tibial	GTEx
rs2837030	NCRNA00114	cis	parietal	SCAN
rs2837030	WRB	cis	lung	GTEx
rs2837030	BRWD1	cis	cerebellum	SCAN
rs2837030	SH3BGR	cis	Artery Tibial	GTEx
rs2837030	LCA5L	cis	Thyroid	GTEx
rs2837030	LCA5L	cis	lung	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40778200-40816600	Weak transcription	Pancreas	Pancrea
2	chr21:40778400-40816600	Weak transcription	Left Ventricle	heart
3	chr21:40779200-40801400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:40780400-40802200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:40780600-40801800	Weak transcription	Lung	lung
6	chr21:40781200-40811000	Weak transcription	Aorta	Aorta
7	chr21:40781200-40813000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr21:40781200-40813200	Weak transcription	HSMMtube	muscle
9	chr21:40781400-40802000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr21:40794600-40802000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:40794800-40801400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:40795000-40802000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr21:40795000-40802000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr21:40795200-40801400	Weak transcription	Right Atrium	heart
15	chr21:40798800-40801200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:40800200-40802000	Enhancers	K562	blood
17	chr21:40801000-40801400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:40801000-40801800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr21:40801000-40802200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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