Variant report

Variant	rs2879788
Chromosome Location	chr1:154204310-154204311
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154155761..154157503-chr1:154201763..154204378,2	K562	blood:
2	chr1:154202277..154205016-chr1:154208534..154211363,2	K562	blood:

Variant related genes	Relation type
ENSG00000143549	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10158820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1044013	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10797047	0.91[ASN][1000 genomes]
rs11265238	0.91[JPT][hapmap]
rs11265251	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11265299	0.81[EUR][1000 genomes]
rs11265425	0.95[JPT][hapmap]
rs11802893	0.82[JPT][hapmap]
rs1194593	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1194596	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12023901	0.85[ASN][1000 genomes]
rs12025237	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12026177	0.91[JPT][hapmap]
rs12026615	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12027999	0.86[ASN][1000 genomes]
rs12028554	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12028949	0.91[JPT][hapmap]
rs12029331	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12062977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12408458	0.81[EUR][1000 genomes]
rs12733060	0.86[ASN][1000 genomes]
rs12738393	0.86[ASN][1000 genomes]
rs16835846	0.87[JPT][hapmap]
rs16835852	0.83[JPT][hapmap]
rs1760802	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1760803	0.81[ASN][1000 genomes]
rs1986709	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274993	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2282227	0.82[ASN][1000 genomes]
rs2340473	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3762339	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3762340	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs3790613	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs3790614	0.86[ASN][1000 genomes]
rs3811453	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs3811455	0.91[JPT][hapmap]
rs3828076	0.81[EUR][1000 genomes]
rs3828077	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs3935419	0.91[JPT][hapmap]
rs4240871	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4620534	0.91[JPT][hapmap]
rs6427509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6657214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6673752	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517578	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7524346	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7551128	0.81[EUR][1000 genomes]
rs9803857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9943093	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats 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	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2879788	UBAP2L	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154195200-154211400	Weak transcription	Right Atrium	heart
2	chr1:154195400-154234600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:154195600-154244000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:154196200-154243800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:154196400-154218600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:154196400-154243800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:154196600-154237600	Strong transcription	Fetal Thymus	thymus
8	chr1:154196600-154243600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:154196800-154211800	Strong transcription	NHEK	skin
10	chr1:154196800-154224200	Strong transcription	K562	blood
11	chr1:154196800-154224400	Strong transcription	Primary B cells from cord blood	blood
12	chr1:154196800-154235800	Strong transcription	HUVEC	blood vessel
13	chr1:154196800-154242600	Strong transcription	A549	lung
14	chr1:154197000-154235000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:154197000-154242800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:154197000-154243200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:154197000-154243600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:154197000-154243800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:154197000-154243800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:154197200-154205000	Strong transcription	NHDF-Ad	bronchial
21	chr1:154197200-154210800	Strong transcription	HMEC	breast
22	chr1:154197200-154214200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:154197200-154243600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:154197200-154244000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:154197400-154212200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr1:154197400-154224200	Strong transcription	Hela-S3	cervix
27	chr1:154197400-154242800	Strong transcription	Brain Anterior Caudate	brain
28	chr1:154197600-154204400	Strong transcription	HSMM	muscle
29	chr1:154197600-154204600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:154197600-154205200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:154197600-154205400	Strong transcription	Fetal Lung	lung
32	chr1:154197600-154205800	Strong transcription	Rectal Smooth Muscle	rectum
33	chr1:154197600-154208800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:154197600-154209600	Strong transcription	Fetal Intestine Small	intestine
35	chr1:154197600-154210600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:154197600-154211200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:154197600-154211200	Strong transcription	Lung	lung
38	chr1:154197600-154212800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr1:154197600-154213200	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr1:154197600-154214000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:154197600-154214600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:154197600-154218600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:154197600-154218800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:154197600-154226400	Strong transcription	Osteobl	bone
45	chr1:154197600-154236000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:154197600-154236200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:154197600-154236800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:154197600-154239200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:154197600-154239200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr1:154197600-154239400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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