Variant report

Variant	rs2257047
Chromosome Location	chr21:40141866-40141867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40139801..40142205-chr21:40143628..40147654,4	K562	blood:
2	chr21:40140717..40143513-chr21:40158331..40160522,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1013777	0.83[CHB][hapmap]
rs1041438	0.97[ASN][1000 genomes]
rs11088448	0.84[CHB][hapmap]
rs1209912	0.82[ASN][1000 genomes]
rs1209913	0.83[ASN][1000 genomes]
rs1209917	0.82[CHB][hapmap]
rs1209925	0.83[CHB][hapmap]
rs1209926	0.82[CHB][hapmap]
rs1209927	0.82[CHB][hapmap]
rs1209929	0.83[CHB][hapmap]
rs1209932	0.82[CHB][hapmap]
rs1209933	0.87[CHB][hapmap]
rs1209934	0.87[CHB][hapmap]
rs1209935	0.90[CHB][hapmap]
rs1209940	0.87[CHB][hapmap]
rs1209943	0.91[CHB][hapmap]
rs1209944	0.87[CHB][hapmap]
rs1209952	0.82[CHB][hapmap]
rs1309152	0.82[CHB][hapmap]
rs2156422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2156423	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836679	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836680	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7280798	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8133579	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9977542	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9981039	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060405	chr21:40095523-40159813	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1057356	chr21:40103881-40147363	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv913739	chr21:40103951-40152372	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv913740	chr21:40103951-40157124	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1066051	chr21:40114130-40147363	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1057627	chr21:40114130-40151977	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1060535	chr21:40114130-40155067	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1063936	chr21:40114130-40159150	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv913741	chr21:40116044-40142854	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv459254	chr21:40116044-40152372	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv459255	chr21:40116044-40152372	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv459256	chr21:40116044-40152372	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv459257	chr21:40116044-40152372	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv470900	chr21:40116044-40152372	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv587475	chr21:40116044-40152372	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv459258	chr21:40116044-40157124	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv587476	chr21:40116044-40157124	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv913742	chr21:40116044-40157124	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv516348	chr21:40116044-40161381	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv913743	chr21:40116044-40161381	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv1055623	chr21:40118451-40161072	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv1056485	chr21:40128875-40159813	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40128200-40144600	Weak transcription	Hela-S3	cervix
2	chr21:40132600-40144800	Weak transcription	Aorta	Aorta
3	chr21:40132600-40144800	Weak transcription	Ovary	ovary
4	chr21:40139200-40142800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr21:40139200-40145000	Weak transcription	Esophagus	oesophagus
6	chr21:40139200-40146400	Weak transcription	Lung	lung
7	chr21:40139400-40142800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr21:40139400-40145000	Weak transcription	Left Ventricle	heart
9	chr21:40139600-40144800	Weak transcription	HMEC	breast
10	chr21:40139600-40145000	Weak transcription	Colonic Mucosa	Colon
11	chr21:40139600-40145000	Weak transcription	Right Atrium	heart
12	chr21:40139600-40145000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr21:40139600-40145400	Enhancers	Fetal Intestine Large	intestine
14	chr21:40139600-40145600	Enhancers	Fetal Intestine Small	intestine
15	chr21:40139800-40142600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr21:40139800-40144600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr21:40139800-40144800	Weak transcription	Adipose Nuclei	Adipose
18	chr21:40140000-40144800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr21:40140000-40144800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:40140000-40145000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr21:40140200-40142000	Enhancers	A549	lung
22	chr21:40140400-40142000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:40140400-40142200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr21:40140400-40142800	Enhancers	Fetal Lung	lung
25	chr21:40140400-40143000	Enhancers	Fetal Stomach	stomach
26	chr21:40140600-40142200	Enhancers	Rectal Smooth Muscle	rectum
27	chr21:40140600-40144200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr21:40140600-40144600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr21:40140600-40144800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr21:40140600-40145000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr21:40140800-40142800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr21:40141000-40142000	Enhancers	Colon Smooth Muscle	Colon
33	chr21:40141000-40142400	Weak transcription	Fetal Kidney	kidney
34	chr21:40141000-40142600	Weak transcription	Stomach Mucosa	stomach
35	chr21:40141000-40144600	Weak transcription	NHEK	skin
36	chr21:40141000-40144800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr21:40141000-40144800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr21:40141000-40145000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr21:40141200-40142000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr21:40141200-40142000	Enhancers	Brain Germinal Matrix	brain
41	chr21:40141200-40142000	Enhancers	NH-A	brain
42	chr21:40141200-40144600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr21:40141200-40144600	Weak transcription	HSMM	muscle
44	chr21:40141400-40142200	Enhancers	Osteobl	bone
45	chr21:40141400-40142600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:40141400-40143400	Enhancers	HSMMtube	muscle
47	chr21:40141400-40143600	Weak transcription	NHDF-Ad	bronchial
48	chr21:40141400-40144800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr21:40141400-40144800	Weak transcription	GM12878-XiMat	blood
50	chr21:40141400-40145600	Enhancers	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links