Variant report

Variant	rs62229740
Chromosome Location	chr21:45445374-45445375
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45443107..45445711-chr21:45516311..45518422,2	K562	blood:
2	chr21:45443004..45445894-chr21:45525431..45527091,3	K562	blood:
3	chr21:45444934..45447565-chr21:45527496..45530031,3	K562	blood:
4	chr21:45443004..45445894-chr21:45525520..45527091,2	K562	blood:
5	chr21:45285715..45287395-chr21:45444497..45446106,2	K562	blood:
6	chr21:45357462..45359128-chr21:45444905..45447348,2	K562	blood:
7	chr21:45432147..45436364-chr21:45445225..45446864,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13047214	0.96[EUR][1000 genomes]
rs17004630	0.96[EUR][1000 genomes]
rs1971507	0.89[EUR][1000 genomes]
rs2242951	0.83[EUR][1000 genomes]
rs2276532	0.96[EUR][1000 genomes]
rs2299817	0.96[EUR][1000 genomes]
rs28385580	0.95[EUR][1000 genomes]
rs35524612	0.86[EUR][1000 genomes]
rs4819375	0.83[EUR][1000 genomes]
rs4819380	0.83[EUR][1000 genomes]
rs62226688	0.86[EUR][1000 genomes]
rs62227166	0.96[EUR][1000 genomes]
rs7275722	0.96[EUR][1000 genomes]
rs7276709	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
4	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
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62229740	PWP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45433200-45452600	Weak transcription	Aorta	Aorta
2	chr21:45433800-45448000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr21:45434200-45448800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr21:45434200-45450800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr21:45434400-45446800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr21:45434400-45451000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr21:45434800-45447200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr21:45434800-45447400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr21:45435000-45450200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr21:45436800-45446800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr21:45438200-45451400	Weak transcription	Hela-S3	cervix
12	chr21:45440400-45446000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr21:45440600-45446800	Enhancers	Primary B cells from peripheral blood	blood
14	chr21:45440800-45451400	Weak transcription	Dnd41	blood
15	chr21:45441200-45447600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:45441600-45445800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr21:45441800-45452400	Weak transcription	Fetal Brain Female	brain
18	chr21:45442600-45447000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr21:45443200-45446800	Enhancers	Brain Anterior Caudate	brain
20	chr21:45443200-45447000	Enhancers	Brain Substantia Nigra	brain
21	chr21:45443400-45446200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr21:45443400-45446800	Enhancers	Brain Cingulate Gyrus	brain
23	chr21:45443600-45446400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr21:45443600-45447000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr21:45443800-45448600	Enhancers	Left Ventricle	heart
26	chr21:45444000-45446000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr21:45444000-45446200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr21:45444000-45446400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:45444000-45446400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:45444000-45446400	Enhancers	Primary T cells from cord blood	blood
31	chr21:45444000-45446800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr21:45444000-45447000	Enhancers	Spleen	Spleen
33	chr21:45444000-45448400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr21:45444200-45445800	Enhancers	Right Atrium	heart
35	chr21:45444200-45446000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr21:45444200-45446000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr21:45444200-45446000	Enhancers	HUVEC	blood vessel
38	chr21:45444200-45446200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr21:45444200-45446200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr21:45444200-45446200	Enhancers	Lung	lung
41	chr21:45444200-45446200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr21:45444200-45446400	Enhancers	Fetal Kidney	kidney
43	chr21:45444200-45446400	Enhancers	NHDF-Ad	bronchial
44	chr21:45444200-45446400	Enhancers	Osteobl	bone
45	chr21:45444200-45446800	Enhancers	Brain Angular Gyrus	brain
46	chr21:45444200-45446800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr21:45444200-45447800	Enhancers	Psoas Muscle	Psoas
48	chr21:45444400-45448000	Enhancers	Primary hematopoietic stem cells	blood
49	chr21:45444400-45452400	Weak transcription	Fetal Intestine Small	intestine
50	chr21:45444600-45445400	Enhancers	Cortex derived primary cultured neurospheres	brain

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