Variant report

Variant	rs2277805
Chromosome Location	chr21:45494183-45494184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45462400..45464509-chr21:45491982..45494825,2	MCF-7	breast:
2	chr21:45487715..45490221-chr21:45492098..45495083,2	K562	blood:
3	chr21:45230529..45232410-chr21:45493973..45496831,2	MCF-7	breast:

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1051981	0.93[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10854489	0.84[EUR][1000 genomes]
rs11089111	0.81[EUR][1000 genomes]
rs11700919	0.81[EUR][1000 genomes]
rs12627239	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs13046297	0.84[CEU][hapmap]
rs13047030	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13047214	0.88[ASN][1000 genomes]
rs13048791	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs17004630	0.90[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs1858665	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs2006694	0.90[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs2020945	0.84[CEU][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs2020946	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2020947	0.84[EUR][1000 genomes]
rs2039272	0.85[EUR][1000 genomes]
rs2071135	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2071142	0.84[CEU][hapmap];0.91[TSI][hapmap]
rs2071143	0.84[CEU][hapmap];0.94[TSI][hapmap]
rs2071146	0.84[CEU][hapmap]
rs2071152	0.80[TSI][hapmap]
rs2071154	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]
rs2073433	0.84[CEU][hapmap]
rs2187313	0.86[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2238711	0.83[TSI][hapmap]
rs2242950	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs2242951	0.81[ASN][1000 genomes]
rs2242953	0.84[CEU][hapmap]
rs2242954	0.84[CEU][hapmap]
rs2243999	0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs2245462	0.83[TSI][hapmap]
rs2251267	0.94[TSI][hapmap]
rs2255016	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2255716	0.84[EUR][1000 genomes]
rs2255828	0.89[CEU][hapmap];0.88[TSI][hapmap]
rs2255922	0.89[EUR][1000 genomes]
rs2255955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276530	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs2276532	1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs2277806	0.84[CEU][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs2299815	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2299816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299817	1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2299818	0.88[EUR][1000 genomes]
rs2329707	0.82[EUR][1000 genomes]
rs2516519	0.81[EUR][1000 genomes]
rs2516521	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs2776368	0.81[EUR][1000 genomes]
rs2838464	0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap]
rs2838466	0.83[EUR][1000 genomes]
rs2838469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838471	0.90[EUR][1000 genomes]
rs2838473	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2838474	0.84[EUR][1000 genomes]
rs2838478	0.85[CEU][hapmap]
rs2838482	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs2838486	0.84[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs2838488	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs2838490	0.91[TSI][hapmap]
rs2838491	0.84[CEU][hapmap];0.94[TSI][hapmap]
rs2838492	0.82[CEU][hapmap]
rs2838493	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs2838494	0.84[CEU][hapmap]
rs2838496	0.84[CEU][hapmap]
rs2838502	0.91[TSI][hapmap]
rs2838503	0.88[TSI][hapmap]
rs2838507	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs2838508	0.93[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.88[TSI][hapmap]
rs2838509	0.90[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.87[TSI][hapmap]
rs28385580	0.88[ASN][1000 genomes]
rs2850150	0.84[EUR][1000 genomes]
rs2850154	0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2850155	0.81[EUR][1000 genomes]
rs2855651	0.82[EUR][1000 genomes]
rs2855653	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28859288	0.82[EUR][1000 genomes]
rs35524612	0.88[ASN][1000 genomes]
rs3788102	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3788104	0.90[CHB][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3788108	0.90[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4818881	0.84[CEU][hapmap]
rs4818886	0.90[CHB][hapmap];0.89[CHD][hapmap]
rs4819361	0.90[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs4819362	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs4819370	0.86[EUR][1000 genomes]
rs4819372	0.81[EUR][1000 genomes]
rs4819373	0.81[EUR][1000 genomes]
rs4819375	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs4819376	0.91[TSI][hapmap]
rs4819378	0.84[CEU][hapmap]
rs4819383	0.84[CEU][hapmap]
rs56384549	0.84[EUR][1000 genomes]
rs59675192	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62226688	0.89[ASN][1000 genomes]
rs7275722	0.86[ASN][1000 genomes]
rs7276709	0.88[ASN][1000 genomes]
rs7277269	0.89[CEU][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs7280558	0.88[TSI][hapmap]
rs7281270	0.85[EUR][1000 genomes]
rs7281768	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs7281778	0.83[EUR][1000 genomes]
rs7282324	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7282643	0.83[EUR][1000 genomes]
rs756554	0.94[TSI][hapmap]
rs756555	0.82[CEU][hapmap]
rs7676	0.93[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8130647	0.82[EUR][1000 genomes]
rs8132918	0.86[EUR][1000 genomes]
rs8133422	0.83[EUR][1000 genomes]
rs8133610	0.86[EUR][1000 genomes]
rs885872	0.86[ASW][hapmap];0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs915774	0.83[TSI][hapmap]
rs9306169	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9306171	0.83[TSI][hapmap]
rs9306172	0.84[CEU][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs965733	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs968713	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs968714	0.84[CEU][hapmap];0.94[TSI][hapmap]
rs9974315	0.84[EUR][1000 genomes]
rs9975978	0.84[EUR][1000 genomes]
rs9977564	0.87[EUR][1000 genomes]
rs9978130	0.84[EUR][1000 genomes]
rs9979882	0.80[EUR][1000 genomes]
rs9981485	0.80[EUR][1000 genomes]
rs9985064	0.90[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2277805	PWP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 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	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
3	chr21:45451000-45494400	Weak transcription	Fetal Brain Male	brain
4	chr21:45468400-45502400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:45468800-45502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:45469400-45502000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr21:45471800-45495400	Strong transcription	Fetal Muscle Leg	muscle
8	chr21:45471800-45502200	Strong transcription	Fetal Intestine Small	intestine
9	chr21:45472000-45494200	Weak transcription	Psoas Muscle	Psoas
10	chr21:45472000-45502600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr21:45472600-45504400	Strong transcription	Fetal Stomach	stomach
12	chr21:45472800-45503800	Strong transcription	Liver	Liver
13	chr21:45473000-45526600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr21:45475000-45502600	Weak transcription	Right Atrium	heart
15	chr21:45481400-45498400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:45481600-45502400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr21:45481600-45510800	Strong transcription	Dnd41	blood
18	chr21:45481600-45523800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:45481800-45502600	Strong transcription	Left Ventricle	heart
20	chr21:45481800-45503800	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr21:45482000-45503000	Strong transcription	Primary B cells from cord blood	blood
22	chr21:45484400-45494200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr21:45484400-45496200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr21:45484600-45494400	Weak transcription	Fetal Lung	lung
25	chr21:45484600-45496000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr21:45485400-45498600	Weak transcription	Stomach Mucosa	stomach
27	chr21:45485600-45502200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr21:45485800-45502200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr21:45485800-45506800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr21:45485800-45506800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr21:45486000-45502000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr21:45486000-45503000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr21:45486200-45495200	Strong transcription	Primary T cells from cord blood	blood
34	chr21:45486200-45495400	Strong transcription	Placenta	Placenta
35	chr21:45486200-45503400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr21:45486200-45524000	Strong transcription	GM12878-XiMat	blood
37	chr21:45486400-45501000	Strong transcription	Fetal Thymus	thymus
38	chr21:45486400-45501000	Strong transcription	Thymus	Thymus
39	chr21:45486400-45501800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr21:45487000-45498000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr21:45487000-45498000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr21:45487200-45501800	Weak transcription	A549	lung
43	chr21:45487400-45494400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr21:45487400-45494400	Weak transcription	NHDF-Ad	bronchial
45	chr21:45487600-45494200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr21:45487600-45494200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr21:45487600-45498000	Weak transcription	HMEC	breast
48	chr21:45488400-45495000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr21:45488400-45496200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr21:45488400-45499200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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