Variant report

Variant	rs2838511
Chromosome Location	chr21:45589980-45589981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:45573470..45576200-chr21:45587990..45590480,2	MCF-7	breast:
2	chr21:45585072..45590786-chr21:45590904..45593996,5	K562	blood:
3	chr21:45574984..45576720-chr21:45588923..45590555,2	MCF-7	breast:
4	chr21:45589478..45591671-chr21:45607631..45610004,2	MCF-7	breast:
5	chr21:45588410..45594838-chr21:45658945..45665595,14	MCF-7	breast:
6	chr21:45564255..45569334-chr21:45585754..45591354,8	K562	blood:
7	chr21:45582972..45588290-chr21:45588610..45593083,12	MCF-7	breast:
8	chr21:45580740..45582853-chr21:45588250..45590805,3	MCF-7	breast:
9	chr21:45589159..45592630-chr21:45595018..45597675,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237604	Chromatin interaction
ENSG00000267913	Chromatin interaction
ENSG00000160223	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1005046	0.95[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11089117	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11702859	0.82[EUR][1000 genomes]
rs2242950	0.84[CHB][hapmap]
rs2838507	0.84[CEU][hapmap]
rs2838508	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs2838509	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs2838512	0.89[CEU][hapmap]
rs7280558	0.85[CEU][hapmap]
rs915772	0.85[CEU][hapmap];0.94[YRI][hapmap]
rs915774	0.85[CEU][hapmap];0.93[YRI][hapmap]
rs9985064	0.89[CEU][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
4	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
5	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
6	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
7	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
8	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
9	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer 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	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS 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
11	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
14	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
16	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
17	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
18	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
19	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
20	nsv1065479	chr21:45571324-45617878	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv913899	chr21:45577102-45611950	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv913900	chr21:45577102-45640139	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2838511	PWP2	cis	Muscle Skeletal	GTEx
rs2838511	PWP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45575400-45592000	Weak transcription	Fetal Brain Female	brain
2	chr21:45579800-45590400	Weak transcription	Colon Smooth Muscle	Colon
3	chr21:45579800-45590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr21:45580000-45591200	Weak transcription	Fetal Heart	heart
5	chr21:45581000-45590400	Weak transcription	Pancreas	Pancrea
6	chr21:45581000-45591600	Weak transcription	Right Atrium	heart
7	chr21:45584200-45598800	Weak transcription	Ovary	ovary
8	chr21:45584600-45590200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr21:45586400-45592400	Weak transcription	HUVEC	blood vessel
10	chr21:45586800-45590400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr21:45586800-45592200	Weak transcription	Brain Angular Gyrus	brain
12	chr21:45587200-45590600	Weak transcription	Right Ventricle	heart
13	chr21:45587200-45591600	Weak transcription	Brain Anterior Caudate	brain
14	chr21:45587200-45591600	Weak transcription	Brain Hippocampus Middle	brain
15	chr21:45587200-45592200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr21:45587200-45592200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr21:45587400-45590000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr21:45587400-45592400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr21:45587600-45590000	Weak transcription	GM12878-XiMat	blood
20	chr21:45587600-45590200	Weak transcription	Lung	lung
21	chr21:45587600-45590600	Weak transcription	Adipose Nuclei	Adipose
22	chr21:45587600-45591000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:45587600-45591200	Weak transcription	Fetal Muscle Leg	muscle
24	chr21:45587600-45592200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr21:45587600-45592200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr21:45587600-45592200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr21:45587600-45592400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr21:45587600-45596200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr21:45587800-45590600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr21:45587800-45590800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr21:45587800-45590800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr21:45587800-45592000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr21:45587800-45592400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr21:45588000-45590600	Weak transcription	Fetal Thymus	thymus
35	chr21:45588000-45590800	Weak transcription	Brain Substantia Nigra	brain
36	chr21:45588000-45591200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr21:45588000-45591600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr21:45588000-45592000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr21:45588000-45592000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr21:45588000-45592200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr21:45588400-45590400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr21:45588400-45590400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr21:45588400-45590600	Weak transcription	Primary B cells from cord blood	blood
44	chr21:45588400-45591600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr21:45588400-45592800	Weak transcription	Primary T cells from cord blood	blood
46	chr21:45588600-45590600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr21:45588600-45592200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr21:45589000-45592800	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr21:45589000-45593600	Enhancers	Gastric	stomach
50	chr21:45589200-45590400	Enhancers	Colonic Mucosa	Colon

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