Variant report

Variant	rs27251
Chromosome Location	chr5:50128022-50128023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:50127786..50130617-chr5:50160573..50163072,2	K562	blood:
2	chr5:50127314..50129210-chr5:50143987..50146810,2	MCF-7	breast:
3	chr5:50127791..50129355-chr5:50135469..50137717,2	MCF-7	breast:

Extended variants
information (count: 106 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10038842	0.82[EUR][1000 genomes]
rs10039639	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs10043477	0.87[EUR][1000 genomes]
rs10070517	0.84[EUR][1000 genomes]
rs10471940	0.82[EUR][1000 genomes]
rs10471956	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10755235	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs10940472	0.88[EUR][1000 genomes]
rs10940497	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11739828	0.90[EUR][1000 genomes]
rs11750241	0.88[EUR][1000 genomes]
rs11750771	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12188262	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12188654	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12518013	1.00[ASN][1000 genomes]
rs12518710	1.00[JPT][hapmap]
rs12519006	0.97[EUR][1000 genomes]
rs12521579	0.97[EUR][1000 genomes]
rs13153982	0.90[EUR][1000 genomes]
rs13164951	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs13173734	0.88[EUR][1000 genomes]
rs13359044	0.97[EUR][1000 genomes]
rs1375127	1.00[CEU][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs152102	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs154133	0.97[EUR][1000 genomes]
rs154135	0.96[EUR][1000 genomes]
rs154137	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs154138	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs154141	0.97[EUR][1000 genomes]
rs157970	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884018	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs169497	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs171555	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17195388	0.97[EUR][1000 genomes]
rs182230	1.00[CEU][hapmap];0.83[YRI][hapmap];0.90[EUR][1000 genomes]
rs1988613	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2354526	0.82[EUR][1000 genomes]
rs2548581	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2548582	0.81[CEU][hapmap];0.96[EUR][1000 genomes]
rs2548583	0.96[EUR][1000 genomes]
rs256340	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs256341	1.00[CEU][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs26062	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs26065	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs26066	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs26068	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs26069	1.00[CEU][hapmap];0.82[YRI][hapmap];0.95[EUR][1000 genomes]
rs26071	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2697662	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs27156	0.97[EUR][1000 genomes]
rs27244	0.97[EUR][1000 genomes]
rs27245	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27254	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27264	0.83[EUR][1000 genomes]
rs27357	0.99[EUR][1000 genomes]
rs27465	0.96[EUR][1000 genomes]
rs27467	1.00[CEU][hapmap]
rs27468	1.00[CEU][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs27469	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs27574	0.97[EUR][1000 genomes]
rs27609	0.94[EUR][1000 genomes]
rs27627	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs27725	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28085	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs282549	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs282550	1.00[CEU][hapmap];0.83[YRI][hapmap];0.97[EUR][1000 genomes]
rs282551	0.96[EUR][1000 genomes]
rs282552	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[EUR][1000 genomes]
rs282553	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs282557	0.88[EUR][1000 genomes]
rs282559	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs282561	1.00[CEU][hapmap];0.90[YRI][hapmap];0.92[EUR][1000 genomes]
rs32377	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs32378	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs32404	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs32425	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs3763367	0.83[EUR][1000 genomes]
rs39613	1.00[CEU][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs39949	0.87[EUR][1000 genomes]
rs4029420	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs41502	0.94[EUR][1000 genomes]
rs42284	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4865628	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4865974	1.00[JPT][hapmap]
rs4866001	1.00[JPT][hapmap]
rs57079776	0.81[EUR][1000 genomes]
rs578198	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59900589	0.81[EUR][1000 genomes]
rs62366937	0.86[EUR][1000 genomes]
rs6450301	0.82[EUR][1000 genomes]
rs6450359	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6869356	0.87[EUR][1000 genomes]
rs6872496	1.00[CEU][hapmap];0.90[YRI][hapmap];0.90[EUR][1000 genomes]
rs6886872	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs6890519	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6890869	1.00[CEU][hapmap]
rs7449019	0.84[EUR][1000 genomes]
rs7711839	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs7723361	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7734389	0.82[EUR][1000 genomes]
rs895801	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs921210	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs27251	PARP8	Cis_1M	lymphoblastoid	RTeQTL
rs27251	LOC647121	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50071600-50138200	Weak transcription	Placenta	Placenta
2	chr5:50078200-50140000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:50085400-50136200	Weak transcription	Thymus	Thymus
4	chr5:50091200-50130400	Weak transcription	Pancreas	Pancrea
5	chr5:50091200-50133600	Weak transcription	Lung	lung
6	chr5:50091200-50136000	Weak transcription	Gastric	stomach
7	chr5:50091200-50140600	Weak transcription	Small Intestine	intestine
8	chr5:50096000-50132200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:50100200-50139400	Weak transcription	Ovary	ovary
10	chr5:50104600-50129400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:50104600-50136200	Weak transcription	NHEK	skin
12	chr5:50108000-50135000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:50108200-50142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:50109400-50141800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr5:50109600-50129000	Strong transcription	Dnd41	blood
16	chr5:50109800-50134400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:50109800-50136400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:50110000-50141800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr5:50110400-50133400	Strong transcription	Primary B cells from cord blood	blood
20	chr5:50110400-50143400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr5:50110400-50143600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:50110600-50134600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:50110800-50132000	Weak transcription	Brain Substantia Nigra	brain
24	chr5:50110800-50133400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:50110800-50140200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr5:50111000-50140800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr5:50111200-50141600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:50113000-50139800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:50114800-50134000	Weak transcription	Fetal Intestine Small	intestine
30	chr5:50115000-50138000	Weak transcription	Fetal Stomach	stomach
31	chr5:50115400-50133200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:50115800-50133400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:50117400-50129600	Weak transcription	Fetal Brain Male	brain
34	chr5:50118200-50130600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr5:50118600-50139600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:50119000-50128600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:50119200-50131000	Weak transcription	Aorta	Aorta
38	chr5:50119200-50139800	Weak transcription	Spleen	Spleen
39	chr5:50119200-50144200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:50119800-50132800	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:50120200-50133600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr5:50122200-50135000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr5:50122600-50128200	Weak transcription	Fetal Kidney	kidney
44	chr5:50122600-50130400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:50123200-50132800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr5:50123600-50132800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:50123800-50129200	Strong transcription	GM12878-XiMat	blood
48	chr5:50123800-50131600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:50123800-50137600	Strong transcription	Primary T cells from cord blood	blood
50	chr5:50124200-50145200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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