Variant report

Variant	rs1051331
Chromosome Location	chr21:46226786-46226787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:46226484-46226786	A549	lung:	n/a	n/a
2	POLR2A	chr21:46226512-46226943	GM12878	blood:	n/a	n/a
3	POLR2A	chr21:46226667-46226796	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr21:46226523-46227012	T-47D	breast:	n/a	n/a
5	POLR2A	chr21:46226647-46227824	GM12878	blood:	n/a	n/a
6	POLR2A	chr21:46226776-46226959	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr21:46221550-46227421	K562	blood:	n/a	n/a
8	POLR2A	chr21:46226379-46227109	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr21:46226722-46227147	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46224269..46228564-chr21:46290759..46294027,4	K562	blood:
2	chr21:46226063..46230226-chr21:46492213..46495741,5	K562	blood:
3	chr21:46226554..46228509-chr21:46290759..46292691,2	K562	blood:
4	chr21:46225579..46227162-chr21:46344756..46347625,2	MCF-7	breast:
5	chr21:46225527..46227783-chr21:46359339..46361331,2	MCF-7	breast:

No data

Variant related genes	Relation type
UBE2G2	TF binding region
ENSG00000268856	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1141	1.00[CEU][hapmap];0.86[TSI][hapmap]
rs17217834	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17289578	0.80[EUR][1000 genomes]
rs17289745	1.00[CEU][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2017089	1.00[CEU][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs2838689	1.00[CEU][hapmap];0.86[TSI][hapmap]
rs2838690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838692	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28728356	0.85[EUR][1000 genomes]
rs8645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs873301	0.88[EUR][1000 genomes]
rs9975507	1.00[CHB][hapmap]
rs9977480	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9977684	1.00[CEU][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9984357	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv965985	chr21:46225485-46228954	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1051331	PCBP3	cis	parietal	SCAN
rs1051331	UBE2G2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46222400-46236400	Weak transcription	Small Intestine	intestine
2	chr21:46222600-46226800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr21:46222600-46234800	Weak transcription	Right Atrium	heart
4	chr21:46222600-46236400	Weak transcription	Stomach Mucosa	stomach
5	chr21:46222600-46237200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr21:46222800-46236400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr21:46222800-46237200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:46223000-46226800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:46223000-46230800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:46223000-46230800	Strong transcription	NHEK	skin
11	chr21:46223000-46232400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr21:46223000-46233600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:46223000-46233600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:46223000-46234200	Strong transcription	Placenta	Placenta
15	chr21:46223000-46236400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr21:46223000-46236400	Strong transcription	Fetal Stomach	stomach
17	chr21:46223200-46226800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr21:46223200-46228000	Strong transcription	HSMM	muscle
19	chr21:46223200-46230000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr21:46223200-46230600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr21:46223200-46234000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:46223200-46234000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr21:46223200-46234000	Strong transcription	NHLF	lung
24	chr21:46223200-46235200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr21:46223200-46235800	Strong transcription	Fetal Intestine Small	intestine
26	chr21:46223400-46230400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr21:46223400-46230800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr21:46223400-46231000	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr21:46223400-46231200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr21:46223400-46231200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr21:46223400-46233000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr21:46223400-46233800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr21:46223400-46233800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr21:46223400-46234000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr21:46223400-46234000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr21:46223400-46234600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr21:46223600-46229600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr21:46223600-46230800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:46223600-46231000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr21:46223600-46232400	Strong transcription	Dnd41	blood
41	chr21:46223600-46233600	Strong transcription	Osteobl	bone
42	chr21:46223600-46234200	Strong transcription	Fetal Intestine Large	intestine
43	chr21:46223600-46235000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr21:46223800-46227600	Strong transcription	Colon Smooth Muscle	Colon
45	chr21:46223800-46230800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr21:46223800-46232600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr21:46223800-46234000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:46223800-46234200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr21:46223800-46234600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr21:46223800-46235600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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