Variant report

Variant	rs2837037
Chromosome Location	chr21:40824161-40824162
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40720444..40722867-chr21:40823306..40826080,2	MCF-7	breast:
2	chr21:40686237..40688163-chr21:40821826..40824303,2	MCF-7	breast:
3	chr21:40823323..40825964-chr21:40833634..40835639,2	K562	blood:
4	chr21:40554460..40556456-chr21:40823248..40825971,3	K562	blood:
5	chr21:40797216..40799492-chr21:40822971..40825535,2	MCF-7	breast:
6	chr21:40759594..40762847-chr21:40823318..40826677,3	K562	blood:
7	chr21:40759594..40762847-chr21:40822621..40825193,3	K562	blood:
8	chr21:40554955..40557163-chr21:40823681..40826162,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182093	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000238141	Chromatin interaction
ENSG00000272991	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10483056	1.00[CHD][hapmap]
rs11575939	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522	1.00[CHD][hapmap]
rs16997618	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16997765	1.00[CHD][hapmap]
rs16997780	1.00[CHD][hapmap]
rs2065313	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]
rs2205200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2205201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2223028	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2246078	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410128	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837009	0.92[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2837015	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2837017	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2837018	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];0.87[ASN][1000 genomes]
rs2837019	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]
rs2837020	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2837021	0.81[AMR][1000 genomes];0.92[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];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837024	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]
rs2837025	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]
rs2837026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837029	1.00[CEU][hapmap];0.85[GIH][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837030	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]
rs2837031	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837032	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]
rs2837034	1.00[CEU][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]
rs2837036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837039	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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837040	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]
rs2837061	1.00[CHD][hapmap]
rs2837066	1.00[CHD][hapmap]
rs2840267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4281987	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56812456	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56866897	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58900137	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596289	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs61342945	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7275686	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7276418	1.00[CHD][hapmap]
rs7276575	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7276981	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]
rs7277627	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]
rs7279753	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73365952	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73367928	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367958	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367962	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367974	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367976	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73906032	0.81[ASN][1000 genomes]
rs73906033	0.81[AMR][1000 genomes];0.87[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	0.80[AMR][1000 genomes];0.92[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:25)

SNP	Gene	Cis/trans	Tissue	Source
rs2837037	IGSF5	cis	parietal	SCAN
rs2837037	WRB	cis	lung	GTEx
rs2837037	WRB	cis	Skin Sun Exposed Lower leg	GTEx
rs2837037	LCA5L	cis	Esophagus Muscularis	GTEx
rs2837037	NCRNA00114	cis	parietal	SCAN
rs2837037	SH3BGR	cis	lymphoblastoid	seeQTL
rs2837037	SH3BGR	cis	Skin Sun Exposed Lower leg	GTEx
rs2837037	LCA5L	cis	Thyroid	GTEx
rs2837037	BRWD1	cis	cerebellum	SCAN
rs2837037	HMGN1	cis	multi-tissue	Pritchard
rs2837037	LCA5L	cis	Skin Sun Exposed Lower leg	GTEx
rs2837037	SH3BGR	cis	Adipose Subcutaneous	GTEx
rs2837037	LOC643790	trans	multi-tissue	Pritchard
rs2837037	LCA5L	cis	Nerve Tibial	GTEx
rs2837037	WRB	cis	Adipose Subcutaneous	GTEx
rs2837037	WRB	cis	cerebellum	SCAN
rs2837037	LCA5L	cis	lung	GTEx
rs2837037	BRWD1	cis	parietal	SCAN
rs2837037	SIM2	cis	parietal	SCAN
rs2837037	SH3BGR	cis	Artery Tibial	GTEx
rs2837037	WRB	cis	Artery Tibial	GTEx
rs2837037	WRB	cis	parietal	SCAN
rs2837037	WRB	cis	multi-tissue	Pritchard
rs2837037	WRB	cis	Nerve Tibial	GTEx
rs2837037	LCA5L	cis	Artery Tibial	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40822600-40824600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr21:40822800-40825200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:40822800-40828600	Active TSS	Right Ventricle	heart
4	chr21:40823000-40824600	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr21:40823000-40825400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr21:40823000-40825800	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr21:40823200-40824200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:40823200-40824200	Flanking Active TSS	HSMMtube	muscle
9	chr21:40823200-40824400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr21:40823200-40824400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr21:40823200-40824400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr21:40823200-40824600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr21:40823200-40825200	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr21:40823200-40825400	Active TSS	Psoas Muscle	Psoas
15	chr21:40823200-40825400	Flanking Active TSS	K562	blood
16	chr21:40823200-40825600	Active TSS	Right Atrium	heart
17	chr21:40823400-40824400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr21:40823400-40824400	Enhancers	Fetal Lung	lung
19	chr21:40823400-40824800	Enhancers	Fetal Brain Male	brain
20	chr21:40823400-40825000	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr21:40823400-40825200	Active TSS	Brain Cingulate Gyrus	brain
22	chr21:40823400-40825200	Active TSS	Rectal Smooth Muscle	rectum
23	chr21:40823400-40825400	Active TSS	Aorta	Aorta
24	chr21:40823400-40825800	Active TSS	Brain Substantia Nigra	brain
25	chr21:40823600-40824200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr21:40823600-40824200	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr21:40823600-40824200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:40823600-40824200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr21:40823600-40824200	Enhancers	Stomach Mucosa	stomach
30	chr21:40823600-40824200	Flanking Active TSS	NHEK	skin
31	chr21:40823600-40824400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr21:40823600-40824400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr21:40823600-40824400	Active TSS	Fetal Brain Female	brain
34	chr21:40823600-40824400	Flanking Active TSS	HSMM	muscle
35	chr21:40823600-40824600	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr21:40823600-40824800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr21:40823600-40825000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr21:40823600-40825200	Active TSS	Brain Angular Gyrus	brain
39	chr21:40823600-40825200	Active TSS	Left Ventricle	heart
40	chr21:40823600-40825400	Active TSS	Brain Anterior Caudate	brain
41	chr21:40823600-40825400	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr21:40823600-40825800	Active TSS	Stomach Smooth Muscle	stomach
43	chr21:40823800-40824200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr21:40823800-40824200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:40823800-40824200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr21:40823800-40824200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr21:40823800-40824200	Enhancers	Brain Germinal Matrix	brain
48	chr21:40823800-40824400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:40823800-40824400	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr21:40823800-40824600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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