Variant report

Variant	rs55791227
Chromosome Location	chr14:35536877-35536878
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	chr14:35516520..35518836-chr14:35536161..35537991,2	K562	blood:

Extended variants
information (count: 99 )
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	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12100841	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12100944	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17103013	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17103033	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17103044	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17103047	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17386684	0.86[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143948	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143949	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2415258	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34509212	0.91[ASN][1000 genomes]
rs4494460	0.91[ASN][1000 genomes]
rs55833640	0.82[ASN][1000 genomes]
rs55890055	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56142562	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs56363117	0.96[ASN][1000 genomes]
rs57166048	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57338667	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs57411359	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61060564	1.00[ASN][1000 genomes]
rs61492899	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62625039	0.91[ASN][1000 genomes]
rs6571694	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6571695	0.91[ASN][1000 genomes]
rs7140462	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154292	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155697	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7156704	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7156770	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160889	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72664814	0.83[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	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72664820	0.83[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680655	1.00[ASN][1000 genomes]
rs72680657	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680662	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72680663	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8005079	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8007337	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8007346	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8007575	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008066	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011195	0.91[ASN][1000 genomes]
rs8011242	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011549	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012905	0.96[ASN][1000 genomes]
rs8014760	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8016541	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8017547	1.00[ASN][1000 genomes]
rs8018116	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8019182	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019482	0.91[ASN][1000 genomes]
rs8019523	0.91[ASN][1000 genomes]
rs8019700	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8019709	0.91[ASN][1000 genomes]
rs8019741	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888560	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9888561	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9888597	0.83[AFR][1000 genomes];1.00[ASN][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	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
21	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
22	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55791227	PPP2R3C	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35516400-35537600	Weak transcription	Ovary	ovary
2	chr14:35516400-35552600	Weak transcription	Spleen	Spleen
3	chr14:35516600-35537400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:35516800-35537200	Weak transcription	Fetal Brain Male	brain
5	chr14:35516800-35537600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:35516800-35551200	Weak transcription	Right Ventricle	heart
7	chr14:35516800-35552200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:35517200-35547200	Weak transcription	Brain Anterior Caudate	brain
9	chr14:35517400-35537600	Weak transcription	Colon Smooth Muscle	Colon
10	chr14:35517400-35544000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:35517400-35578800	Weak transcription	Stomach Mucosa	stomach
12	chr14:35517600-35537600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:35517600-35537600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:35517600-35545800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:35517600-35554400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr14:35518000-35547400	Weak transcription	GM12878-XiMat	blood
17	chr14:35520200-35550800	Weak transcription	NHLF	lung
18	chr14:35521000-35559400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:35521600-35540800	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:35523400-35537600	Weak transcription	HSMMtube	muscle
21	chr14:35525800-35537800	Weak transcription	Psoas Muscle	Psoas
22	chr14:35526600-35547200	Weak transcription	Brain Angular Gyrus	brain
23	chr14:35526600-35552400	Weak transcription	Brain Substantia Nigra	brain
24	chr14:35528200-35547400	Weak transcription	Fetal Thymus	thymus
25	chr14:35528200-35552200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:35528200-35559400	Weak transcription	Colonic Mucosa	Colon
27	chr14:35528600-35537400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:35528600-35537400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:35528600-35552400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr14:35528600-35552800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:35528800-35563200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr14:35529000-35552000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:35529400-35555800	Weak transcription	Aorta	Aorta
34	chr14:35529400-35590200	Weak transcription	Esophagus	oesophagus
35	chr14:35530000-35537400	Weak transcription	Adipose Nuclei	Adipose
36	chr14:35530400-35550600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr14:35530600-35537600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:35530600-35537600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr14:35530600-35537600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:35530600-35540600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr14:35530600-35544000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:35530600-35547200	Weak transcription	HMEC	breast
43	chr14:35530600-35548000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:35530600-35550200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:35530600-35552400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:35530600-35563600	Weak transcription	Small Intestine	intestine
47	chr14:35530600-35590000	Weak transcription	Fetal Heart	heart
48	chr14:35530800-35537400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:35530800-35537400	Weak transcription	NHEK	skin
50	chr14:35530800-35552000	Weak transcription	Hela-S3	cervix

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