Variant report

Variant	rs27243
Chromosome Location	chr5:50139358-50139359
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	chr5:50134929..50136632-chr5:50136986..50139711,2	MCF-7	breast:
2	chr5:50138736..50140241-chr5:50145361..50148070,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10471414	0.88[EUR][1000 genomes]
rs10737958	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11954386	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12055210	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12153387	0.84[EUR][1000 genomes]
rs12186752	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1375128	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs152001	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs154136	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs166863	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs204915	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2354533	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2404958	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2463796	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2463797	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2594708	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs26072	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs27255	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs27598	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs27934	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs27964	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs282544	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs282548	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs282555	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs282556	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs282560	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs32396	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36077571	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4548483	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55932149	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56670602	0.88[EUR][1000 genomes]
rs61401688	0.89[EUR][1000 genomes]
rs62366941	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6450384	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6450391	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66912405	0.85[EUR][1000 genomes]
rs7717033	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs27243	PARP8	cis	Adipose Subcutaneous	GTEx
rs27243	PARP8	cis	Esophagus Muscularis	GTEx
rs27243	LOC647121	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50078200-50140000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:50091200-50140600	Weak transcription	Small Intestine	intestine
3	chr5:50100200-50139400	Weak transcription	Ovary	ovary
4	chr5:50108200-50142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:50109400-50141800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:50110000-50141800	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr5:50110400-50143400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:50110400-50143600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:50110800-50140200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr5:50111000-50140800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:50111200-50141600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:50113000-50139800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:50118600-50139600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:50119200-50139800	Weak transcription	Spleen	Spleen
15	chr5:50119200-50144200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:50124200-50145200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:50124400-50141400	Weak transcription	Fetal Intestine Large	intestine
18	chr5:50124400-50141600	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:50125000-50140000	Weak transcription	Fetal Lung	lung
20	chr5:50125000-50140600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:50125200-50139800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:50125200-50142800	Weak transcription	HMEC	breast
23	chr5:50125200-50143200	Weak transcription	Left Ventricle	heart
24	chr5:50125400-50149200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:50125800-50143200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr5:50126400-50143200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:50129200-50148400	Weak transcription	GM12878-XiMat	blood
28	chr5:50130600-50141400	Strong transcription	Dnd41	blood
29	chr5:50130800-50141400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr5:50132600-50141200	Weak transcription	Aorta	Aorta
31	chr5:50132600-50148400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:50132800-50142200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:50133200-50140800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr5:50133400-50150000	Weak transcription	Adipose Nuclei	Adipose
35	chr5:50135200-50140000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:50137000-50141600	Strong transcription	Primary B cells from cord blood	blood
37	chr5:50137200-50140400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:50137800-50139800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:50137800-50140600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr5:50137800-50140800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:50138000-50140000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:50138200-50140000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:50138200-50140000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:50138200-50140000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:50138200-50140000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
46	chr5:50138200-50140200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:50138400-50139400	Weak transcription	Fetal Brain Male	brain
48	chr5:50138600-50140200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:50138600-50140400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:50138600-50141400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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