Variant report

Variant	rs8019741
Chromosome Location	chr14:35523266-35523267
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	chr14:35520311..35523520-chr14:35872932..35875311,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10146133	0.91[ASN][1000 genomes]
rs11156874	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11848309	0.91[ASN][1000 genomes]
rs11850487	0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12100841	0.82[ASW][hapmap];0.97[LWK][hapmap];0.83[MKK][hapmap];0.82[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12100944	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17103013	0.82[ASW][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17103033	0.91[ASW][hapmap];0.91[GIH][hapmap];0.84[LWK][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17103044	0.86[LWK][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17103047	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17386684	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17456067	0.91[ASN][1000 genomes]
rs1807162	0.91[ASN][1000 genomes]
rs2008130	0.91[ASW][hapmap];0.91[GIH][hapmap];0.84[LWK][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143948	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143949	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2415258	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34509212	0.91[ASN][1000 genomes]
rs4494460	0.91[ASN][1000 genomes]
rs55791227	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55833640	0.82[ASN][1000 genomes]
rs55890055	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56142562	0.91[ASN][1000 genomes]
rs56363117	0.96[ASN][1000 genomes]
rs57166048	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57338667	0.87[ASN][1000 genomes]
rs57411359	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61060564	1.00[ASN][1000 genomes]
rs61492899	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62625039	0.91[ASN][1000 genomes]
rs6571694	0.82[ASW][hapmap];0.91[GIH][hapmap];0.92[LWK][hapmap];0.93[TSI][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6571695	0.91[ASN][1000 genomes]
rs7140462	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154292	0.91[ASW][hapmap];0.91[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155697	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7156704	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7156770	0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160889	0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72664814	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72664816	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72664819	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72664820	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs72664829	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72664840	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72664843	0.91[ASN][1000 genomes]
rs72664849	0.84[ASN][1000 genomes]
rs72664854	0.91[ASN][1000 genomes]
rs72664855	0.91[ASN][1000 genomes]
rs72680622	0.87[ASN][1000 genomes]
rs72680641	0.87[ASN][1000 genomes]
rs72680648	0.96[ASN][1000 genomes]
rs72680652	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680655	1.00[ASN][1000 genomes]
rs72680657	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680662	1.00[ASN][1000 genomes]
rs72680663	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8005079	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8007337	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8007346	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8007575	0.84[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008066	1.00[ASW][hapmap];0.91[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011195	0.91[ASN][1000 genomes]
rs8011242	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011549	0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012905	0.96[ASN][1000 genomes]
rs8014760	0.84[LWK][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8016541	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8017547	1.00[ASN][1000 genomes]
rs8018116	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8019182	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019482	0.91[ASN][1000 genomes]
rs8019523	0.91[ASN][1000 genomes]
rs8019700	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8019709	0.91[ASN][1000 genomes]
rs9888560	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9888561	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9888597	0.81[AFR][1000 genomes];1.00[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	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS 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	52 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv901607	chr14:35449467-35540764	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	48 gene(s)	inside rSNPs	diseases
6	nsv901608	chr14:35449467-35571651	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
7	nsv901609	chr14:35449467-35587767	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS 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	52 gene(s)	inside rSNPs	diseases
8	nsv456204	chr14:35466584-35556498	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
9	nsv564263	chr14:35466584-35556498	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
10	nsv901611	chr14:35470049-35540764	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv901612	chr14:35470049-35571651	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers 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	27 gene(s)	inside rSNPs	diseases
12	nsv901613	chr14:35470049-35587767	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking 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	30 gene(s)	inside rSNPs	diseases
13	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
14	nsv901614	chr14:35485748-35571651	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers 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
15	nsv901615	chr14:35485748-35630175	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
16	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
17	nsv1043801	chr14:35493065-35539399	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
18	nsv1052800	chr14:35509858-35607117	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats 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	37 gene(s)	inside rSNPs	diseases
19	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
20	nsv564265	chr14:35512335-35624831	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8019741	PPP2R3C	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35516400-35527800	Weak transcription	Esophagus	oesophagus
2	chr14:35516400-35531000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:35516400-35531000	Weak transcription	Gastric	stomach
4	chr14:35516400-35537600	Weak transcription	Ovary	ovary
5	chr14:35516400-35552600	Weak transcription	Spleen	Spleen
6	chr14:35516600-35528400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:35516600-35529800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:35516600-35530000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:35516600-35537400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:35516800-35523800	Weak transcription	Thymus	Thymus
11	chr14:35516800-35527000	Weak transcription	Brain Germinal Matrix	brain
12	chr14:35516800-35527800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:35516800-35527800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:35516800-35530800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:35516800-35536800	Weak transcription	Fetal Kidney	kidney
16	chr14:35516800-35537200	Weak transcription	Fetal Brain Male	brain
17	chr14:35516800-35537600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:35516800-35551200	Weak transcription	Right Ventricle	heart
19	chr14:35516800-35552200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:35517000-35531000	Weak transcription	Pancreas	Pancrea
21	chr14:35517200-35524600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr14:35517200-35527400	Weak transcription	Colonic Mucosa	Colon
23	chr14:35517200-35527800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr14:35517200-35547200	Weak transcription	Brain Anterior Caudate	brain
25	chr14:35517400-35524600	Weak transcription	Fetal Lung	lung
26	chr14:35517400-35527600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:35517400-35528200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:35517400-35530200	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:35517400-35530200	Weak transcription	HMEC	breast
30	chr14:35517400-35530200	Weak transcription	NH-A	brain
31	chr14:35517400-35537600	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:35517400-35544000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:35517400-35578800	Weak transcription	Stomach Mucosa	stomach
34	chr14:35517600-35524600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:35517600-35524600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:35517600-35524800	Weak transcription	Brain Substantia Nigra	brain
37	chr14:35517600-35530200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:35517600-35536400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:35517600-35537600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr14:35517600-35537600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr14:35517600-35545800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:35517600-35554400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:35517800-35531400	Strong transcription	Fetal Stomach	stomach
44	chr14:35518000-35527400	Weak transcription	Dnd41	blood
45	chr14:35518000-35528400	Weak transcription	Aorta	Aorta
46	chr14:35518000-35529800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:35518000-35547400	Weak transcription	GM12878-XiMat	blood
48	chr14:35518200-35530000	Weak transcription	Fetal Heart	heart
49	chr14:35518400-35525000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:35518600-35526200	Weak transcription	Brain Angular Gyrus	brain

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