Variant report

Variant	rs8021880
Chromosome Location	chr14:35724490-35724491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35723222..35726200-chr14:35728941..35731510,2	MCF-7	breast:
2	chr14:35722200..35727003-chr14:35872302..35875908,5	MCF-7	breast:
3	chr14:35724152..35726170-chr14:35727566..35729303,2	K562	blood:
4	chr14:35723024..35726241-chr14:35873288..35876145,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11156878	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11620737	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11623882	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11624462	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11627092	0.80[AFR][1000 genomes]
rs11627958	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11628446	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1475041	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17458312	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1963154	0.80[AFR][1000 genomes]
rs4432181	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55693281	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs56380926	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61988266	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61988267	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61988269	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61988270	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61988271	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61988276	0.90[AFR][1000 genomes]
rs61989543	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61989544	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61989545	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61989546	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61989547	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7153434	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7155760	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7158151	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7158706	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8018597	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	65 gene(s)	inside rSNPs	diseases
4	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS 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	50 gene(s)	inside rSNPs	diseases
6	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1048823	chr14:35537281-35724892	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
8	nsv542032	chr14:35537281-35724892	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv1040540	chr14:35537481-35724753	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv542033	chr14:35537481-35724753	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv1050123	chr14:35546114-35724892	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
12	nsv542034	chr14:35546114-35724892	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
15	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
16	esv2754534	chr14:35690978-35744839	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8021880	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35661000-35736400	Weak transcription	Fetal Intestine Small	intestine
2	chr14:35672000-35742200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:35674800-35737000	Weak transcription	Lung	lung
4	chr14:35680800-35729800	Weak transcription	Primary B cells from cord blood	blood
5	chr14:35681000-35729800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:35684600-35737000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:35684600-35760800	Weak transcription	HSMM	muscle
8	chr14:35686800-35735800	Weak transcription	Fetal Intestine Large	intestine
9	chr14:35690200-35730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:35690600-35735800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:35691200-35735800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:35694600-35726800	Weak transcription	K562	blood
13	chr14:35699800-35735800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:35700200-35729600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:35700200-35738000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:35700400-35729600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:35700400-35735800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:35700600-35729200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:35703400-35729800	Weak transcription	Liver	Liver
20	chr14:35703800-35729800	Weak transcription	Dnd41	blood
21	chr14:35705400-35749800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:35705600-35726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:35705600-35729800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:35705800-35735800	Weak transcription	HMEC	breast
25	chr14:35706800-35760800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:35708000-35729200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr14:35709800-35753600	Weak transcription	Small Intestine	intestine
28	chr14:35710200-35736000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:35711000-35737000	Weak transcription	Aorta	Aorta
30	chr14:35712400-35735800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:35714800-35735800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr14:35716600-35729800	Weak transcription	Hela-S3	cervix
33	chr14:35716600-35729800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr14:35716600-35739200	Weak transcription	Adipose Nuclei	Adipose
35	chr14:35716800-35760600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:35716800-35761000	Weak transcription	Spleen	Spleen
37	chr14:35717000-35760800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr14:35717600-35753800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr14:35717800-35726800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:35717800-35729800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:35717800-35729800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr14:35718000-35726400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:35718000-35727000	Weak transcription	HSMMtube	muscle
44	chr14:35718000-35729200	Weak transcription	Fetal Muscle Leg	muscle
45	chr14:35718200-35726400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr14:35718200-35741000	Weak transcription	Fetal Lung	lung
47	chr14:35718800-35736600	Weak transcription	Fetal Stomach	stomach
48	chr14:35720000-35729800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr14:35720000-35729800	Weak transcription	Thymus	Thymus
50	chr14:35720000-35744800	Weak transcription	Fetal Brain Male	brain

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