Variant report

Variant	rs2837011
Chromosome Location	chr21:40780560-40780561
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
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	POLR2A	chr21:40780351-40780626	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40719170..40722188-chr21:40780437..40783108,3	MCF-7	breast:
2	chr21:40759055..40761616-chr21:40779996..40781570,2	K562	blood:
3	chr21:40777765..40781068-chr21:40793118..40796419,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3BGR-2	chr21:40778283-40781266	NONHSAT082186

No data

Variant related genes	Relation type
WRB	TF binding region
ENSG00000205581	Chromatin interaction
ENSG00000182093	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11088475	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2049823	0.91[CHD][hapmap];0.81[JPT][hapmap]
rs2837010	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2837012	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2837013	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2837014	0.94[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs2837016	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2837027	1.00[ASW][hapmap];0.83[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.82[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837028	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837033	0.94[CEU][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2837038	0.94[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4816628	0.88[CHD][hapmap];0.81[JPT][hapmap]
rs7276842	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7277602	0.81[JPT][hapmap]
rs8129564	0.84[ASN][1000 genomes]
rs8130381	0.94[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs9979289	0.88[CHD][hapmap];0.81[JPT][hapmap]
rs9979353	0.94[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9983180	0.82[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap]
rs9983435	0.82[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1056452	chr21:40741893-40782587	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1063521	chr21:40747754-40790197	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2837011	BRWD1	cis	cerebellum	SCAN
rs2837011	BRWD1	cis	parietal	SCAN
rs2837011	LCA5L	cis	parietal	SCAN
rs2837011	LINC00114	cis	Artery Tibial	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40761000-40782600	Weak transcription	Right Atrium	heart
2	chr21:40764600-40800600	Weak transcription	Psoas Muscle	Psoas
3	chr21:40765600-40781200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:40766800-40783400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr21:40767200-40781000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr21:40768200-40781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:40768200-40784600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr21:40768800-40782200	Weak transcription	Fetal Thymus	thymus
9	chr21:40769400-40783200	Weak transcription	Primary B cells from cord blood	blood
10	chr21:40770200-40785800	Weak transcription	Esophagus	oesophagus
11	chr21:40770400-40780600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr21:40772600-40786400	Weak transcription	Fetal Heart	heart
13	chr21:40776600-40786200	Weak transcription	K562	blood
14	chr21:40777600-40780800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr21:40777600-40781000	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr21:40777800-40780600	Strong transcription	Adipose Nuclei	Adipose
17	chr21:40777800-40780600	Strong transcription	Liver	Liver
18	chr21:40777800-40780600	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr21:40777800-40781200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr21:40778000-40780600	Strong transcription	Brain Angular Gyrus	brain
21	chr21:40778000-40780600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr21:40778000-40781400	Strong transcription	Stomach Smooth Muscle	stomach
23	chr21:40778200-40780600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr21:40778200-40780600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr21:40778200-40780800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr21:40778200-40780800	Strong transcription	Dnd41	blood
27	chr21:40778200-40781400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr21:40778200-40783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr21:40778200-40816600	Weak transcription	Pancreas	Pancrea
30	chr21:40778400-40780600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr21:40778400-40780600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:40778400-40780600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:40778400-40780600	Strong transcription	Lung	lung
34	chr21:40778400-40780600	Strong transcription	Ovary	ovary
35	chr21:40778400-40780800	Strong transcription	Brain Germinal Matrix	brain
36	chr21:40778400-40780800	Strong transcription	Fetal Intestine Small	intestine
37	chr21:40778400-40780800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr21:40778400-40781200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr21:40778400-40781200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr21:40778400-40781200	Strong transcription	Fetal Stomach	stomach
41	chr21:40778400-40781400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr21:40778400-40781400	Strong transcription	Fetal Muscle Leg	muscle
43	chr21:40778400-40781800	Weak transcription	HUVEC	blood vessel
44	chr21:40778400-40782200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:40778400-40782400	Weak transcription	Colonic Mucosa	Colon
46	chr21:40778400-40782800	Weak transcription	Osteobl	bone
47	chr21:40778400-40783000	Weak transcription	HMEC	breast
48	chr21:40778400-40783200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr21:40778400-40784400	Weak transcription	NHDF-Ad	bronchial
50	chr21:40778400-40787200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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