Variant report

Variant	rs55984711
Chromosome Location	chr2:87302258-87302259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10205992	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11901025	0.83[ASN][1000 genomes]
rs1460507	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62144418	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6742055	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532319	chr2:87024867-88005418	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv1800069	chr2:87056027-87885905	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1010107	chr2:87105444-88052318	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
4	nsv519198	chr2:87108211-87771196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	esv33176	chr2:87122115-87325330	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1803562	chr2:87126250-88038663	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
7	nsv997663	chr2:87126250-88052318	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	esv2757815	chr2:87155912-88042080	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking 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	26 gene(s)	inside rSNPs	diseases
9	esv1796172	chr2:87245762-88042080	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
10	nsv428398	chr2:87245762-88042080	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
11	esv1801752	chr2:87245762-88123177	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
12	nsv1002590	chr2:87250484-87960588	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
13	nsv1011527	chr2:87250484-88052318	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
14	nsv10065	chr2:87255641-87345941	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv1000885	chr2:87260341-87849159	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
16	nsv1003162	chr2:87260341-87960588	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
17	nsv1014950	chr2:87260341-88024655	Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
18	nsv874476	chr2:87262856-87424779	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
19	nsv874477	chr2:87262856-87453247	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
20	nsv1007205	chr2:87278884-87960588	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
21	nsv1002598	chr2:87278884-88046609	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
22	nsv1011714	chr2:87278884-88052318	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
23	nsv874478	chr2:87281373-87361162	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
24	nsv874479	chr2:87281373-87424779	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
25	nsv874480	chr2:87281373-87432615	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
26	nsv874481	chr2:87281373-87522277	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
27	nsv961805	chr2:87292841-87345428	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
28	nsv874482	chr2:87293789-87410663	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
29	nsv916253	chr2:87295670-88005429	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
30	nsv870024	chr2:87295735-88187783	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
31	nsv1003146	chr2:87302095-87960588	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
32	nsv1006012	chr2:87302095-88024655	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs55984711	AC092651.1	cis	Adipose Subcutaneous	GTEx
rs55984711	PLGLB1	Cis_1M	lymphoblastoid	RTeQTL
rs55984711	AC125232.1	cis	lung	GTEx
rs55984711	PLGLB2	cis	Adipose Subcutaneous	GTEx
rs55984711	AC125232.1	cis	Whole Blood	GTEx
rs55984711	PLGLA1///PLGLB1///PLGLB2	N/A	lymphoblastoid	RTeQTL
rs55984711	AC125232.1	cis	Nerve Tibial	GTEx
rs55984711	AC125232.1	cis	Esophagus Muscularis	GTEx
rs55984711	PLGLB2	cis	Artery Tibial	GTEx
rs55984711	AC125232.1	cis	Artery Tibial	GTEx
rs55984711	AC125232.1	cis	Adipose Subcutaneous	GTEx
rs55984711	AC125232.1	cis	Stomach	GTEx
rs55984711	LOC285074	Cis_1M	lymphoblastoid	RTeQTL
rs55984711	AC125232.1	cis	Heart Left Ventricle	GTEx
rs55984711	PLGLB2	cis	Skin Sun Exposed Lower leg	GTEx
rs55984711	PLGLB1	cis	Skin Sun Exposed Lower leg	GTEx
rs55984711	AC125232.1	cis	Skin Sun Exposed Lower leg	GTEx
rs55984711	AC125232.1	cis	Thyroid	GTEx
rs55984711	AC125232.1	cis	Muscle Skeletal	GTEx
rs55984711	AC125232.1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87301000-87304400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:87301000-87304400	Active TSS	Fetal Intestine Small	intestine
3	chr2:87302000-87302400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:87302000-87302400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
5	chr2:87302000-87302400	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr2:87302000-87302400	Flanking Active TSS	Primary B cells from peripheral blood	blood
7	chr2:87302000-87302400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:87302000-87302400	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr2:87302000-87302400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr2:87302000-87302400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr2:87302000-87302400	Flanking Active TSS	HUVEC	blood vessel
12	chr2:87302000-87302400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr2:87302000-87302600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:87302000-87302600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr2:87302000-87302600	Flanking Active TSS	NH-A	brain
16	chr2:87302000-87302800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr2:87302000-87303400	Active TSS	Fetal Lung	lung
18	chr2:87302000-87304000	Active TSS	Primary hematopoietic stem cells	blood
19	chr2:87302000-87304200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:87302000-87304200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr2:87302000-87304200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:87302000-87304200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:87302000-87304200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:87302000-87304200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:87302000-87304200	Active TSS	Brain Substantia Nigra	brain
26	chr2:87302000-87304200	Active TSS	Fetal Kidney	kidney
27	chr2:87302000-87304200	Active TSS	GM12878-XiMat	blood
28	chr2:87302000-87304200	Active TSS	Hela-S3	cervix
29	chr2:87302000-87304200	Active TSS	K562	blood
30	chr2:87302000-87304200	Active TSS	NHDF-Ad	bronchial
31	chr2:87302000-87304200	Active TSS	NHLF	lung
32	chr2:87302000-87304400	Active TSS	H1 Cell Line	embryonic stem cell
33	chr2:87302000-87304400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:87302000-87304400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:87302000-87304400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:87302000-87304400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:87302000-87304400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr2:87302000-87304400	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr2:87302000-87304400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:87302000-87304400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:87302000-87304400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:87302000-87304400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr2:87302000-87304400	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr2:87302000-87304400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr2:87302000-87304400	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr2:87302000-87304400	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr2:87302000-87304400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:87302000-87304400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:87302000-87304400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:87302000-87304400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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