Variant report

Variant	rs61988266
Chromosome Location	chr14:35711798-35711799
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35711794..35714036-chr14:35837683..35839377,2	MCF-7	breast:
2	chr14:35681924..35684171-chr14:35710768..35712492,2	MCF-7	breast:
3	chr14:35711268..35715087-chr14:35870152..35873955,3	MCF-7	breast:
4	chr14:35707379..35710076-chr14:35710482..35713240,2	MCF-7	breast:
5	chr14:35709151..35713105-chr14:35760006..35762827,3	MCF-7	breast:
6	chr14:35711337..35713419-chr14:35730009..35732772,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction
ENSG00000240392	Chromatin interaction
ENSG00000100902	Chromatin interaction
ENSG00000265530	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10444669	0.84[ASN][1000 genomes]
rs11156878	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11620737	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620951	0.90[ASN][1000 genomes]
rs11623882	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11624462	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625810	0.84[ASN][1000 genomes]
rs11625942	0.84[ASN][1000 genomes]
rs11626113	0.90[ASN][1000 genomes]
rs11627092	0.80[AFR][1000 genomes]
rs11627958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11628446	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1475041	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17458312	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1963154	0.80[AFR][1000 genomes]
rs34319196	0.86[ASN][1000 genomes]
rs34658054	0.86[ASN][1000 genomes]
rs34844770	0.86[ASN][1000 genomes]
rs35361707	0.86[ASN][1000 genomes]
rs35468265	0.84[ASN][1000 genomes]
rs35861323	0.86[ASN][1000 genomes]
rs4432181	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55693281	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs55805245	0.84[ASN][1000 genomes]
rs55815172	0.84[ASN][1000 genomes]
rs56240056	0.84[ASN][1000 genomes]
rs56380926	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988267	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61988269	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61988270	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61988271	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61988276	0.90[AFR][1000 genomes]
rs61989495	0.84[ASN][1000 genomes]
rs61989543	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61989544	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989545	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61989546	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61989547	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66539779	0.86[ASN][1000 genomes]
rs7153434	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7155760	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7158151	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7158706	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs8018597	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs8021880	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
14	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
15	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
16	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
17	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
18	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
19	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
20	nsv519458	chr14:35702857-35715411	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv817626	chr14:35702857-35715411	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61988266	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35643400-35724000	Weak transcription	Left Ventricle	heart
2	chr14:35661000-35736400	Weak transcription	Fetal Intestine Small	intestine
3	chr14:35672000-35742200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:35674800-35737000	Weak transcription	Lung	lung
5	chr14:35678000-35719600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:35680800-35729800	Weak transcription	Primary B cells from cord blood	blood
7	chr14:35681000-35729800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:35684600-35737000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:35684600-35760800	Weak transcription	HSMM	muscle
10	chr14:35686800-35735800	Weak transcription	Fetal Intestine Large	intestine
11	chr14:35687400-35716400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:35690200-35730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:35690600-35735800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:35691200-35735800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:35693800-35717000	Weak transcription	HSMMtube	muscle
16	chr14:35694600-35726800	Weak transcription	K562	blood
17	chr14:35699200-35717200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:35699800-35735800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:35700200-35729600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:35700200-35738000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:35700400-35712400	Weak transcription	GM12878-XiMat	blood
22	chr14:35700400-35716600	Weak transcription	Fetal Thymus	thymus
23	chr14:35700400-35717400	Weak transcription	Thymus	Thymus
24	chr14:35700400-35729600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:35700400-35735800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:35700600-35729200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr14:35700800-35717400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:35703400-35729800	Weak transcription	Liver	Liver
29	chr14:35703800-35716600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr14:35703800-35717200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:35703800-35729800	Weak transcription	Dnd41	blood
32	chr14:35704200-35716000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr14:35704200-35716400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:35705400-35749800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:35705600-35713800	Weak transcription	Primary T cells from cord blood	blood
36	chr14:35705600-35726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:35705600-35729800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:35705800-35735800	Weak transcription	HMEC	breast
39	chr14:35706800-35760800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:35708000-35729200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr14:35708200-35720400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:35708600-35723800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:35709800-35753600	Weak transcription	Small Intestine	intestine
44	chr14:35710000-35717800	Weak transcription	HepG2	liver
45	chr14:35710200-35736000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:35710400-35723800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:35711000-35717000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:35711000-35737000	Weak transcription	Aorta	Aorta
49	chr14:35711400-35712400	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr14:35711600-35712400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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