Variant report

Variant	rs2838713
Chromosome Location	chr21:46277968-46277969
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46267198..46269183-chr21:46277821..46280408,2	K562	blood:
2	chr21:46231737..46233290-chr21:46275941..46278575,2	K562	blood:
3	chr21:46236769..46240553-chr21:46275908..46278452,4	MCF-7	breast:
4	chr21:46272154..46279111-chr21:46289852..46295619,12	K562	blood:
5	chr21:46220602..46224333-chr21:46276246..46279137,5	MCF-7	breast:
6	chr21:46272684..46279612-chr21:46286573..46290125,9	K562	blood:
7	chr21:46273548..46279979-chr21:46290137..46294261,8	K562	blood:
8	chr21:46236115..46238070-chr21:46276155..46279056,5	MCF-7	breast:
9	chr21:46275572..46279404-chr21:46280486..46283691,4	MCF-7	breast:
10	chr21:46240414..46242423-chr21:46276915..46278463,2	MCF-7	breast:
11	chr21:46275534..46278404-chr21:46290739..46294827,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183255	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000236519	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1054220	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13050333	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13052639	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2117341	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs2236442	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2277811	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2282114	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs235259	0.82[CHB][hapmap]
rs235340	0.82[CHB][hapmap]
rs235341	0.82[CHB][hapmap]
rs2838711	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[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];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838712	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35199002	0.97[ASN][1000 genomes]
rs35424519	0.97[ASN][1000 genomes]
rs35432315	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35846107	0.97[ASN][1000 genomes]
rs3810586	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs73238097	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv459298	chr21:46223847-46277968	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv587813	chr21:46223847-46277968	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv913963	chr21:46223847-46277968	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv913967	chr21:46249752-46279505	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv913968	chr21:46249752-46301008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2838713	PTTG1IP	cis	Artery Tibial	GTEx
rs2838713	PTTG1IP	cis	lung	GTEx
rs2838713	PTTG1IP	cis	multi-tissue	Pritchard
rs2838713	PTTG1IP	Cis_1M	lymphoblastoid	RTeQTL
rs2838713	PTTG1IP	cis	Heart Left Ventricle	GTEx
rs2838713	PTTG1IP	cis	lymphoblastoid	seeQTL
rs2838713	PTTG1IP	cis	Artery Aorta	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46266600-46278800	Weak transcription	Fetal Kidney	kidney
2	chr21:46267400-46285200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr21:46267400-46286600	Strong transcription	Fetal Stomach	stomach
4	chr21:46267600-46280600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:46267600-46287000	Strong transcription	Brain Germinal Matrix	brain
6	chr21:46268000-46278800	Strong transcription	Stomach Smooth Muscle	stomach
7	chr21:46268000-46281200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:46268200-46278400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr21:46268200-46281200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:46268200-46285800	Strong transcription	Fetal Muscle Leg	muscle
11	chr21:46268600-46278200	Strong transcription	Adipose Nuclei	Adipose
12	chr21:46268600-46278400	Strong transcription	Lung	lung
13	chr21:46268600-46278600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:46268600-46279800	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr21:46268600-46280600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr21:46268600-46280600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:46268600-46281800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr21:46268600-46281800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr21:46268600-46282000	Strong transcription	Fetal Brain Female	brain
20	chr21:46268600-46285200	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr21:46268600-46285200	Strong transcription	Osteobl	bone
22	chr21:46268600-46285400	Strong transcription	Thymus	Thymus
23	chr21:46268600-46285400	Strong transcription	HUVEC	blood vessel
24	chr21:46268600-46285800	Strong transcription	Liver	Liver
25	chr21:46268600-46286000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr21:46268600-46286600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr21:46268800-46279800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:46268800-46285200	Strong transcription	Dnd41	blood
29	chr21:46268800-46285200	Strong transcription	NHLF	lung
30	chr21:46268800-46285400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr21:46268800-46286600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:46268800-46286600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr21:46268800-46286600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr21:46269200-46279800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr21:46269400-46280800	Strong transcription	Hela-S3	cervix
36	chr21:46269400-46285800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr21:46269600-46281600	Strong transcription	Pancreas	Pancrea
38	chr21:46270000-46278600	Weak transcription	Fetal Brain Male	brain
39	chr21:46270200-46278000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr21:46270800-46279000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr21:46271400-46286800	Weak transcription	Psoas Muscle	Psoas
42	chr21:46272000-46281400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr21:46272400-46279000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr21:46272400-46283800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr21:46272600-46279600	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr21:46272600-46285200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr21:46272800-46281600	Strong transcription	HepG2	liver
48	chr21:46273000-46285000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr21:46273000-46286600	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr21:46273400-46279400	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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