Variant report

Variant	rs2886712
Chromosome Location	chr2:179311529-179311530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179310863..179318324-chr2:179338966..179346608,29	K562	blood:
2	chr2:179309273..179312087-chr2:179344521..179346573,2	MCF-7	breast:
3	chr2:179311363..179318324-chr2:179340414..179346232,28	K562	blood:

Variant related genes	Relation type
ENSG00000116095	Chromatin interaction
ENSG00000079150	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10179153	0.81[ASN][1000 genomes]
rs10207436	0.84[ASN][1000 genomes]
rs10930831	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12052983	0.83[ASN][1000 genomes]
rs13382684	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13411588	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16866342	0.87[ASN][1000 genomes]
rs1967327	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1978580	0.85[ASN][1000 genomes]
rs2016615	0.87[ASN][1000 genomes]
rs2114582	0.83[ASN][1000 genomes]
rs2288320	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2288322	0.93[ASN][1000 genomes]
rs2366603	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2366604	0.83[ASN][1000 genomes]
rs3731754	0.85[ASN][1000 genomes]
rs3752689	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769866	0.87[ASN][1000 genomes]
rs4894017	0.84[ASN][1000 genomes]
rs4894018	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4894019	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4894020	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6704545	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6710856	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6726043	0.89[ASN][1000 genomes]
rs6739142	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6753709	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6758838	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7587593	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7589679	0.84[ASN][1000 genomes]
rs7598228	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7600176	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7602597	0.84[ASN][1000 genomes]
rs9288019	0.84[ASN][1000 genomes]
rs967507	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv1841610	chr2:179296271-179312613	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv1817469	chr2:179296271-179319391	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv9296	chr2:179308042-179315047	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	esv3458777	chr2:179309167-179312263	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3458778	chr2:179309167-179312263	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2886712	PRKRA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179279800-179313800	Weak transcription	Stomach Mucosa	stomach
2	chr2:179280200-179314600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:179290200-179312800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:179290800-179312000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:179290800-179312600	Strong transcription	Dnd41	blood
6	chr2:179291000-179311600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:179291000-179313200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr2:179291000-179313400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:179291000-179313600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:179291200-179312200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:179291200-179312800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:179291200-179312800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:179291200-179312800	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:179291200-179313600	Strong transcription	Fetal Thymus	thymus
15	chr2:179291200-179313800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:179291400-179312600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:179291400-179312800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:179291400-179313400	Strong transcription	HSMM	muscle
19	chr2:179291400-179313600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr2:179291600-179312600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:179291600-179312800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:179291600-179312800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:179291600-179313200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:179291600-179313400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:179291600-179313600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:179291800-179313000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:179291800-179314000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:179292000-179314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:179292400-179312800	Weak transcription	Fetal Heart	heart
30	chr2:179293200-179312600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:179293600-179313000	Strong transcription	Liver	Liver
32	chr2:179293800-179313600	Strong transcription	Adipose Nuclei	Adipose
33	chr2:179293800-179313800	Strong transcription	HUVEC	blood vessel
34	chr2:179294000-179313000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:179294200-179314200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:179295400-179311600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:179295400-179312800	Strong transcription	HepG2	liver
38	chr2:179295400-179313600	Strong transcription	Fetal Intestine Large	intestine
39	chr2:179295400-179314000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:179297000-179313200	Weak transcription	Right Atrium	heart
41	chr2:179298600-179314400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:179299600-179314800	Weak transcription	Small Intestine	intestine
43	chr2:179302000-179313400	Strong transcription	NHDF-Ad	bronchial
44	chr2:179302600-179313000	Strong transcription	Fetal Muscle Leg	muscle
45	chr2:179303200-179313800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:179303200-179313800	Strong transcription	NH-A	brain
47	chr2:179304000-179314200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:179304400-179313400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr2:179304400-179314000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:179304600-179313600	Strong transcription	Muscle Satellite Cultured Cells	--

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