Variant report

Variant	rs9919891
Chromosome Location	chr14:35664617-35664618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35664498..35666606-chr14:35871768..35874425,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10130047	0.96[ASN][1000 genomes]
rs10136614	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10137674	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10137757	0.96[ASN][1000 genomes]
rs10143314	0.95[ASN][1000 genomes]
rs10143690	0.96[ASN][1000 genomes]
rs10146115	0.96[ASN][1000 genomes]
rs10146445	0.96[ASN][1000 genomes]
rs10149918	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12586302	0.81[ASN][1000 genomes]
rs2415263	0.85[CEU][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2415264	0.96[ASN][1000 genomes]
rs2415265	0.96[ASN][1000 genomes]
rs2415267	0.86[CEU][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2415268	0.95[ASN][1000 genomes]
rs2415274	0.96[ASN][1000 genomes]
rs2415275	0.83[ASN][1000 genomes]
rs28378259	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28452109	0.96[ASN][1000 genomes]
rs28723612	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28750252	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4488360	0.96[ASN][1000 genomes]
rs4981270	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58764649	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6571696	0.94[ASN][1000 genomes]
rs6571700	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6571702	0.96[ASN][1000 genomes]
rs7141699	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7142230	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7157164	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7157780	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72664862	0.95[ASN][1000 genomes]
rs72664863	0.95[ASN][1000 genomes]
rs7401469	0.89[ASN][1000 genomes]
rs8004288	0.81[ASN][1000 genomes]
rs8015350	0.93[ASN][1000 genomes]
rs8015470	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8016860	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9671922	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv1046992	chr14:35527239-35724227	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers 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	nsv1051274	chr14:35529529-35724227	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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
9	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
10	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
11	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
12	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
13	nsv1042625	chr14:35546094-35680358	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv1043692	chr14:35548276-35720016	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers 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
17	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
18	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
19	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
20	nsv1046680	chr14:35608347-35665374	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9919891	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35604600-35667400	Weak transcription	Spleen	Spleen
2	chr14:35628600-35670200	Weak transcription	Thymus	Thymus
3	chr14:35628600-35672000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:35629600-35666000	Weak transcription	HSMM	muscle
5	chr14:35630000-35665800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:35630200-35665000	Weak transcription	Fetal Kidney	kidney
7	chr14:35630600-35665600	Weak transcription	Hela-S3	cervix
8	chr14:35630600-35665600	Weak transcription	HMEC	breast
9	chr14:35630600-35670200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:35630800-35665600	Weak transcription	Small Intestine	intestine
11	chr14:35630800-35665600	Weak transcription	HUVEC	blood vessel
12	chr14:35630800-35665800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:35637000-35670200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:35638600-35665400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:35643400-35665800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:35643400-35671800	Weak transcription	Fetal Thymus	thymus
17	chr14:35643400-35724000	Weak transcription	Left Ventricle	heart
18	chr14:35643800-35665800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:35647800-35665800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:35650200-35665600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:35650400-35665000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:35650400-35682200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:35650600-35702600	Weak transcription	Liver	Liver
24	chr14:35650800-35707800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:35651000-35670200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr14:35651400-35670200	Weak transcription	Dnd41	blood
27	chr14:35651600-35665600	Weak transcription	Fetal Intestine Large	intestine
28	chr14:35655800-35691800	Weak transcription	Psoas Muscle	Psoas
29	chr14:35656200-35665600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:35657200-35665400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:35660400-35683200	Weak transcription	HSMMtube	muscle
32	chr14:35661000-35665400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:35661000-35665600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:35661000-35665600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:35661000-35665800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:35661000-35672200	Weak transcription	Aorta	Aorta
37	chr14:35661000-35683400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:35661000-35690000	Weak transcription	Fetal Stomach	stomach
39	chr14:35661000-35736400	Weak transcription	Fetal Intestine Small	intestine
40	chr14:35661200-35665600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:35661200-35670200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:35661400-35666000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:35661400-35682200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:35661600-35666000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr14:35661600-35683000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:35661800-35665600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:35661800-35665600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr14:35661800-35665600	Weak transcription	A549	lung
49	chr14:35661800-35666000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:35661800-35670200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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