Variant report

Variant	rs2276532
Chromosome Location	chr21:45485588-45485589
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45483486..45486444-chr21:45498121..45500781,3	K562	blood:
2	chr21:45462776..45465739-chr21:45484700..45487223,2	K562	blood:
3	chr21:45449259..45451430-chr21:45484484..45487019,2	K562	blood:
4	chr21:45483406..45486402-chr21:45486575..45488365,2	MCF-7	breast:
5	chr21:45476652..45480295-chr21:45485072..45489102,4	MCF-7	breast:
6	chr21:45473377..45479336-chr21:45481371..45487468,11	K562	blood:
7	chr21:45431167..45434118-chr21:45483747..45486139,3	K562	blood:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1051981	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs13047214	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13048791	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs17004630	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1971507	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1972272	0.81[EUR][1000 genomes]
rs2006694	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs2071154	0.80[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2187313	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs2242951	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2255955	1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs2277805	1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs2299816	1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs2299817	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838464	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs2838469	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2838507	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs2838508	0.92[JPT][hapmap]
rs2838509	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs28385580	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2850154	0.87[JPT][hapmap]
rs35524612	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3788102	0.89[ASN][1000 genomes]
rs3788104	0.90[CHB][hapmap]
rs3788108	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs4818886	0.90[CHB][hapmap]
rs4819361	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs4819362	0.91[CHB][hapmap]
rs4819375	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4819380	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59675192	0.87[ASN][1000 genomes]
rs62226688	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62227166	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62229740	0.96[EUR][1000 genomes]
rs7275722	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7276709	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7282324	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs7676	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs8131617	0.81[EUR][1000 genomes]
rs885872	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs965733	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs968713	0.89[CHB][hapmap];0.92[JPT][hapmap]
rs9985064	0.90[CHB][hapmap];0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1064549	chr21:45446358-45493720	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
rs2276532	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	chr21:45465800-45487800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:45468400-45502400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr21:45468800-45502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:45469400-45487000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:45469400-45502000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr21:45471400-45487000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:45471800-45495400	Strong transcription	Fetal Muscle Leg	muscle
11	chr21:45471800-45502200	Strong transcription	Fetal Intestine Small	intestine
12	chr21:45472000-45494200	Weak transcription	Psoas Muscle	Psoas
13	chr21:45472000-45502600	Strong transcription	Duodenum Mucosa	Duodenum
14	chr21:45472400-45491200	Strong transcription	Fetal Intestine Large	intestine
15	chr21:45472600-45504400	Strong transcription	Fetal Stomach	stomach
16	chr21:45472800-45503800	Strong transcription	Liver	Liver
17	chr21:45473000-45526600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr21:45475000-45493000	Strong transcription	Fetal Muscle Trunk	muscle
19	chr21:45475000-45502600	Weak transcription	Right Atrium	heart
20	chr21:45475200-45487600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr21:45475200-45494000	Weak transcription	Fetal Kidney	kidney
22	chr21:45475600-45485800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:45475600-45491200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr21:45476200-45487600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:45478200-45487000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr21:45479800-45491200	Weak transcription	Small Intestine	intestine
27	chr21:45480000-45486800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr21:45481400-45485800	Strong transcription	Osteobl	bone
29	chr21:45481400-45487600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr21:45481400-45498400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr21:45481600-45485600	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr21:45481600-45485600	Strong transcription	NHEK	skin
33	chr21:45481600-45486000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr21:45481600-45486600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr21:45481600-45487600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:45481600-45489400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr21:45481600-45489600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr21:45481600-45502400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr21:45481600-45510800	Strong transcription	Dnd41	blood
40	chr21:45481600-45523800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr21:45481800-45485600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr21:45481800-45487400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr21:45481800-45487400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr21:45481800-45487600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr21:45481800-45487600	Strong transcription	Rectal Smooth Muscle	rectum
46	chr21:45481800-45487800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr21:45481800-45488000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr21:45481800-45489600	Strong transcription	Colonic Mucosa	Colon
49	chr21:45481800-45489800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr21:45481800-45490400	Strong transcription	Stomach Smooth Muscle	stomach

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