Variant report

Variant	rs2837036
Chromosome Location	chr21:40822488-40822489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr21:40821978-40825874	K562	blood:	n/a	chr21:40824576-40824585 chr21:40824514-40824527 chr21:40824572-40824585 chr21:40824234-40824248 chr21:40823678-40823687

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40822476-40822526	HAEpiC	amniotic membrane:	n/a
2	chr21:40822476-40822526	MCF10A-Er-Src	breast:	n/a
3	chr21:40822476-40822526	AG10803	skin:	n/a
4	chr21:40822476-40822526	NB4	blood:	n/a
5	chr21:40822476-40822526	HRCEpiC	kidney:	n/a
6	chr21:40822476-40822526	NHBE	bronchial:	n/a
7	chr21:40822476-40822526	HepG2	liver:	n/a
8	chr21:40822476-40822526	HRPEpiC	eye:	n/a
9	chr21:40822476-40822526	HPAEpiC	pulmonary alveolar:	n/a
10	chr21:40822476-40822526	RPTEC	kidney:	n/a
11	chr21:40822476-40822526	HEK293	kidney:	embryo
12	chr21:40822476-40822526	IMR90	lung:	fetal
13	chr21:40822476-40822526	SK-N-MC	brain:	n/a
14	chr21:40822476-40822526	BJ	skin:	n/a
15	chr21:40822476-40822526	SAEC	small airway:	n/a
16	chr21:40822476-40822526	HCT-116	colon:	n/a
17	chr21:40822476-40822526	A549	lung:	n/a
18	chr21:40822476-40822526	HRE	kidney:	n/a
19	chr21:40822476-40822526	HEEpiC	esophagus:	n/a
20	chr21:40822476-40822526	GM12891	blood:	n/a
21	chr21:40822476-40822526	U87	brain:	n/a
22	chr21:40822476-40822526	NH-A	brain:	n/a
23	chr21:40822476-40822526	PANC-1	pancreas:	n/a
24	chr21:40822476-40822526	Hepatocyte	liver:	n/a
25	chr21:40822476-40822526	K562	blood:	n/a
26	chr21:40822476-40822526	SK-N-SH_RA	brain:	n/a
27	chr21:40822476-40822526	ProgFib	skin:	n/a
28	chr21:40822476-40822526	HMEC	breast:	n/a
29	chr21:40822476-40822526	T-47D	breast:	n/a
30	chr21:40822476-40822526	SKMC	muscle:	n/a
31	chr21:40822476-40822526	GM19239	blood:	n/a
32	chr21:40822476-40822526	HCF	heart:	n/a
33	chr21:40822476-40822526	HIPEpiC	eye:	n/a
34	chr21:40822476-40822526	GM12892	blood:	n/a
35	chr21:40822476-40822526	GM12878	blood:	n/a
36	chr21:40822476-40822526	H1-hESC	embryonic stem cell:	embryo
37	chr21:40822476-40822526	HNPCEpiC	eye:	n/a
38	chr21:40822476-40822526	LNCaP	prostate:	n/a
39	chr21:40822476-40822526	HCM	heart:	n/a
40	chr21:40822476-40822526	HCPEpiC	choroid plexus:	n/a
41	chr21:40822476-40822526	GM06990	blood:	n/a
42	chr21:40822476-40822526	PFSK-1	brain:	n/a
43	chr21:40822476-40822526	AG04449	skin:	fetal
44	chr21:40822476-40822526	HUVEC	blood vessel:	n/a
45	chr21:40822476-40822526	AG09319	gingival:	n/a
46	chr21:40822476-40822526	NT2-D1	testis:	n/a
47	chr21:40822476-40822526	AG09309	skin:	n/a
48	chr21:40822476-40822526	MCF-7	breast:	n/a
49	chr21:40822476-40822526	AG04450	lung:	fetal
50	chr21:40822476-40822526	HL-60	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40800116..40802952-chr21:40820049..40823692,3	K562	blood:
2	chr21:40686237..40688163-chr21:40821826..40824303,2	MCF-7	breast:
3	chr21:40800116..40802106-chr21:40821087..40823692,2	K562	blood:
4	chr21:40720043..40722488-chr21:40820831..40823616,2	K562	blood:

No data

Variant related genes	Relation type
LCA5L	TF binding region
SH3BGR	TF binding region
SH3BGR	CpG island
LCA5L	CpG island
ENSG00000238141	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000255568	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11575939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16997618	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2205200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2205201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2223028	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2246078	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410128	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837009	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2837015	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2837017	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2837018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837020	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2837021	0.93[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[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837024	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837029	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837030	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837031	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837034	1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837037	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[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]
rs2837040	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2840267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4281987	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56812456	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56866897	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58900137	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596289	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs61342945	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7275686	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7276575	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7276981	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7277627	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7279753	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73365952	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73367928	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367958	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367962	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367974	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367976	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73906032	0.81[ASN][1000 genomes]
rs73906033	0.89[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	0.82[AMR][1000 genomes];0.93[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:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2837036	SH3BGR	cis	Artery Tibial	GTEx
rs2837036	WRB	cis	Skin Sun Exposed Lower leg	GTEx
rs2837036	SH3BGR	cis	Skin Sun Exposed Lower leg	GTEx
rs2837036	LCA5L	cis	Nerve Tibial	GTEx
rs2837036	WRB	cis	Nerve Tibial	GTEx
rs2837036	WRB	cis	Artery Tibial	GTEx
rs2837036	LCA5L	cis	lung	GTEx
rs2837036	LCA5L	cis	Esophagus Muscularis	GTEx
rs2837036	WRB	cis	lung	GTEx
rs2837036	LCA5L	cis	Thyroid	GTEx
rs2837036	WRB	cis	Adipose Subcutaneous	GTEx
rs2837036	LCA5L	cis	Artery Tibial	GTEx
rs2837036	SH3BGR	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40818200-40823200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr21:40818200-40823200	Weak transcription	HSMM	muscle
3	chr21:40818200-40823400	Weak transcription	Aorta	Aorta
4	chr21:40818200-40823600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:40818400-40822600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr21:40818400-40822800	Weak transcription	Right Ventricle	heart
7	chr21:40818400-40823200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr21:40818400-40823200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr21:40818400-40823200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr21:40818400-40823400	Weak transcription	Fetal Lung	lung
11	chr21:40818400-40823600	Weak transcription	Brain Angular Gyrus	brain
12	chr21:40818400-40823600	Weak transcription	Fetal Stomach	stomach
13	chr21:40818400-40823600	Weak transcription	Pancreas	Pancrea
14	chr21:40818600-40822600	Weak transcription	Brain Anterior Caudate	brain
15	chr21:40818600-40822600	Weak transcription	Brain Substantia Nigra	brain
16	chr21:40818600-40822800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:40818600-40822800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr21:40818600-40823200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:40818600-40823200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr21:40818600-40823200	Weak transcription	HSMMtube	muscle
21	chr21:40818600-40823400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr21:40818600-40823400	Weak transcription	HMEC	breast
23	chr21:40818600-40823600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:40818600-40823600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr21:40818600-40823600	Weak transcription	Brain Hippocampus Middle	brain
26	chr21:40818800-40823200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr21:40818800-40823200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr21:40818800-40823400	Weak transcription	Fetal Brain Male	brain
29	chr21:40818800-40823400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr21:40818800-40823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr21:40819000-40823600	Weak transcription	Stomach Mucosa	stomach
32	chr21:40819200-40823400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr21:40820000-40823000	Weak transcription	Fetal Muscle Leg	muscle
34	chr21:40820000-40823600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr21:40820400-40823800	Enhancers	Fetal Heart	heart
36	chr21:40821000-40823200	Enhancers	K562	blood
37	chr21:40821200-40823400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr21:40821600-40823000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr21:40821800-40823200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr21:40822200-40822600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr21:40822200-40822800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr21:40822200-40822800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr21:40822200-40823000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr21:40822200-40823000	Enhancers	Left Ventricle	heart
45	chr21:40822200-40823800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr21:40822400-40822800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr21:40822400-40823200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr21:40822400-40823200	Enhancers	Psoas Muscle	Psoas
49	chr21:40822400-40823400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr21:40822400-40823600	Enhancers	HUES6 Cell Line	embryonic stem cell

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