Variant report

Variant	rs2071154
Chromosome Location	chr21:45507193-45507194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45506866-45507619	GM12878	blood:	n/a	n/a
2	POLR2A	chr21:45506297-45507549	K562	blood:	n/a	n/a
3	POLR2A	chr21:45506516-45509197	K562	blood:	n/a	n/a
4	POLR2A	chr21:45506646-45507327	GM12878	blood:	n/a	n/a
5	POLR2A	chr21:45506914-45508389	HL-60	blood:	n/a	n/a
6	POLR2A	chr21:45506696-45507629	K562	blood:	n/a	n/a
7	POLR2A	chr21:45507177-45507401	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr21:45506617-45507333	GM12892	blood:	n/a	n/a
9	POLR2A	chr21:45506698-45507339	GM12878	blood:	n/a	n/a
10	POLR2A	chr21:45506160-45508210	K562	blood:	n/a	n/a
11	POLR2A	chr21:45506647-45507654	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr21:45506620-45507902	GM12891	blood:	n/a	n/a
13	POLR2A	chr21:45506544-45508209	HL-60	blood:	n/a	n/a
14	POLR2A	chr21:45506518-45508236	GM12892	blood:	n/a	n/a
15	POLR2A	chr21:45506683-45507194	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr21:45506803-45507696	GM12892	blood:	n/a	n/a
17	POLR2A	chr21:45506561-45507346	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45495920..45497537-chr21:45505183..45507728,2	K562	blood:
2	chr21:45506107..45508081-chr21:45508290..45511239,2	K562	blood:

No data

Variant related genes	Relation type
TRAPPC10	TF binding region
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1051981	0.80[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];0.84[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1131999	0.80[TSI][hapmap];0.80[EUR][1000 genomes]
rs13047030	0.91[ASN][1000 genomes]
rs13047214	0.85[ASN][1000 genomes]
rs13048791	1.00[JPT][hapmap]
rs13050630	0.86[EUR][1000 genomes]
rs17004630	0.90[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs2006694	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs2020948	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs2071135	0.82[ASN][1000 genomes]
rs2071152	0.81[CEU][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes]
rs2156428	0.85[EUR][1000 genomes]
rs2187313	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs2238704	0.81[CEU][hapmap];0.87[TSI][hapmap]
rs2238707	0.87[CEU][hapmap]
rs2238708	0.85[EUR][1000 genomes]
rs2238710	0.86[EUR][1000 genomes]
rs2238711	0.87[CEU][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs2238712	0.85[EUR][1000 genomes]
rs2242951	0.85[ASN][1000 genomes]
rs2243348	0.82[EUR][1000 genomes]
rs2245372	0.86[EUR][1000 genomes]
rs2245380	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs2245386	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs2245462	0.81[CEU][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs2245759	0.81[EUR][1000 genomes]
rs2247400	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs2255016	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2255955	0.80[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2256441	0.81[CEU][hapmap];0.87[TSI][hapmap]
rs2276532	0.80[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2277805	0.80[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2277806	0.81[TSI][hapmap]
rs2299812	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs2299813	0.81[EUR][1000 genomes]
rs2299816	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299817	0.80[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2299820	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs2838464	1.00[JPT][hapmap]
rs2838467	0.86[EUR][1000 genomes]
rs2838468	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs2838469	0.80[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2838472	0.80[CEU][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs2838476	0.87[CEU][hapmap];0.90[TSI][hapmap]
rs2838477	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs2838478	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs2838480	0.81[EUR][1000 genomes]
rs2838481	0.86[EUR][1000 genomes]
rs2838483	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs2838485	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs2838507	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs2838508	0.92[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap]
rs2838509	0.90[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap]
rs28385580	0.85[ASN][1000 genomes]
rs2850154	0.93[JPT][hapmap]
rs2855653	0.85[ASN][1000 genomes]
rs35524612	0.91[ASN][1000 genomes]
rs35610725	0.86[EUR][1000 genomes]
rs3788097	0.81[CEU][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs3788098	0.82[EUR][1000 genomes]
rs3788102	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3788104	0.90[CHB][hapmap];0.92[JPT][hapmap];0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3788108	0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs4818886	0.90[CHB][hapmap];0.89[CHD][hapmap]
rs4819361	0.82[GIH][hapmap];1.00[JPT][hapmap]
rs4819362	0.92[JPT][hapmap]
rs4819366	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs4819375	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs4819380	0.82[ASN][1000 genomes]
rs59675192	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62226688	0.90[ASN][1000 genomes]
rs7275722	0.85[ASN][1000 genomes]
rs7276709	0.85[ASN][1000 genomes]
rs7279727	0.86[EUR][1000 genomes]
rs7282324	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs729882	0.87[CEU][hapmap]
rs7676	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs8126754	0.85[EUR][1000 genomes]
rs8126958	0.87[CEU][hapmap]
rs885872	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[ASN][1000 genomes]
rs915878	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs9306169	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9306171	0.81[CEU][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs9306174	0.86[EUR][1000 genomes]
rs965733	0.86[CEU][hapmap];0.80[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs968713	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[ASN][1000 genomes]
rs968714	0.81[TSI][hapmap]
rs9974165	0.81[EUR][1000 genomes]
rs9975708	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs9981257	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs9982663	0.85[EUR][1000 genomes]
rs9985064	0.90[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2071154	PWP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45473000-45526600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:45481600-45510800	Strong transcription	Dnd41	blood
4	chr21:45481600-45523800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:45486200-45524000	Strong transcription	GM12878-XiMat	blood
6	chr21:45488400-45523800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:45488600-45507200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr21:45491200-45510800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr21:45491400-45514600	Strong transcription	Osteobl	bone
10	chr21:45491600-45514600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:45492600-45510800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr21:45493000-45508400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:45493000-45510400	Strong transcription	HSMM	muscle
14	chr21:45493000-45510800	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr21:45493400-45514800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:45493600-45510800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr21:45493600-45510800	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr21:45493600-45515000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr21:45493800-45514400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr21:45494000-45510800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr21:45495000-45507800	Weak transcription	Fetal Brain Male	brain
22	chr21:45495600-45526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr21:45496200-45510800	Strong transcription	Fetal Brain Female	brain
24	chr21:45496200-45514200	Strong transcription	Brain Germinal Matrix	brain
25	chr21:45496200-45514600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr21:45497000-45510000	Weak transcription	Psoas Muscle	Psoas
27	chr21:45497400-45514600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr21:45498000-45512400	Strong transcription	HMEC	breast
29	chr21:45498400-45524000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr21:45498600-45511000	Strong transcription	HepG2	liver
31	chr21:45498600-45512400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr21:45498600-45523800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr21:45498800-45510800	Strong transcription	NH-A	brain
34	chr21:45499000-45523600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr21:45499000-45524000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:45500000-45507400	Weak transcription	Ovary	ovary
37	chr21:45500000-45507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr21:45501600-45507800	Weak transcription	Small Intestine	intestine
39	chr21:45502400-45508000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr21:45502600-45507400	Genic enhancers	Adipose Nuclei	Adipose
41	chr21:45502600-45507800	Genic enhancers	Duodenum Mucosa	Duodenum
42	chr21:45502600-45509600	Genic enhancers	Right Ventricle	heart
43	chr21:45503400-45514600	Genic enhancers	Fetal Intestine Small	intestine
44	chr21:45503600-45524200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:45503800-45508200	Enhancers	Right Atrium	heart
46	chr21:45503800-45510000	Genic enhancers	Liver	Liver
47	chr21:45503800-45510400	Strong transcription	NHEK	skin
48	chr21:45504000-45507600	Weak transcription	Hela-S3	cervix
49	chr21:45504000-45507600	Weak transcription	HSMMtube	muscle
50	chr21:45504000-45508200	Strong transcription	Placenta	Placenta

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