Variant report

Variant	rs34152125
Chromosome Location	chr8:42777200-42777201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42761584..42764577-chr8:42775485..42778471,2	K562	blood:
2	chr8:42769562..42771371-chr8:42775665..42777706,2	MCF-7	breast:
3	chr8:42768008..42770411-chr8:42777063..42779010,3	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1052654	0.84[CEU][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs11986681	0.92[CEU][hapmap]
rs13248091	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13249741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13251524	1.00[CEU][hapmap]
rs13252221	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13256221	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13257298	0.92[CEU][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs13260731	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13269584	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13271956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13273189	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13273989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13276426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13276821	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13281651	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13282019	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16891663	0.92[CEU][hapmap]
rs16891667	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17622577	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17622732	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34044853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34133016	1.00[AFR][1000 genomes]
rs34143633	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34208103	1.00[AFR][1000 genomes]
rs34210297	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34242561	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34320052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34550994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34582788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34668583	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34742882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34920666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35057982	0.98[EUR][1000 genomes]
rs35168459	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35236316	1.00[AFR][1000 genomes]
rs35252795	0.92[CEU][hapmap];0.86[GIH][hapmap];0.81[TSI][hapmap]
rs35258203	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs35278935	1.00[AFR][1000 genomes]
rs35316170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35390123	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35441746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35444991	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs35491765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35823486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35959188	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35970125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35984555	1.00[AFR][1000 genomes]
rs36026629	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36091568	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4524778	1.00[EUR][1000 genomes]
rs62515895	1.00[AFR][1000 genomes]
rs62515900	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62515905	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515908	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515909	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515910	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515920	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62515948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62517590	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62517594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62517595	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62517599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62517604	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62517605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62517606	1.00[AMR][1000 genomes]
rs62517626	1.00[AMR][1000 genomes]
rs6999489	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs7014595	0.92[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs71231886	0.87[EUR][1000 genomes]
rs71521598	1.00[AFR][1000 genomes]
rs7829867	0.92[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	esv3391654	chr8:42772844-42799123	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	esv3374088	chr8:42772844-42802608	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34152125	FGD6	trans	lymphoblastoid	seeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42753600-42785800	Weak transcription	Esophagus	oesophagus
2	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
3	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:42754600-42781800	Weak transcription	Hela-S3	cervix
5	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:42755000-42787600	Weak transcription	Fetal Brain Male	brain
7	chr8:42755800-42785800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr8:42759800-42781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:42764800-42781800	Weak transcription	Placenta	Placenta
10	chr8:42764800-42787600	Weak transcription	Thymus	Thymus
11	chr8:42765400-42781800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:42766800-42806800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:42767200-42781400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:42767400-42780600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:42767400-42781000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:42768200-42780800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr8:42768200-42787600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:42768800-42781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:42769200-42782000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:42769200-42785600	Weak transcription	Fetal Kidney	kidney
21	chr8:42769400-42778200	Weak transcription	Fetal Lung	lung
22	chr8:42769400-42781400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:42769400-42785800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:42769400-42786000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:42769800-42781000	Weak transcription	Primary T cells from cord blood	blood
26	chr8:42769800-42786000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:42769800-42787200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:42770400-42781000	Weak transcription	Primary B cells from cord blood	blood
29	chr8:42770600-42781400	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:42771400-42780800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:42771400-42781200	Weak transcription	Fetal Stomach	stomach
32	chr8:42771400-42788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:42771800-42787200	Weak transcription	GM12878-XiMat	blood
34	chr8:42772000-42781000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:42772000-42781800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:42772000-42785200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr8:42772200-42785600	Weak transcription	HSMM	muscle
38	chr8:42772400-42800800	Weak transcription	Colonic Mucosa	Colon
39	chr8:42772600-42779200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:42772600-42781400	Weak transcription	Aorta	Aorta
41	chr8:42772600-42785600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:42772600-42785800	Weak transcription	Brain Angular Gyrus	brain
43	chr8:42772600-42786000	Weak transcription	Ovary	ovary
44	chr8:42772600-42789800	Weak transcription	Small Intestine	intestine
45	chr8:42772600-42815400	Weak transcription	Gastric	stomach
46	chr8:42772600-42815400	Weak transcription	Psoas Muscle	Psoas
47	chr8:42772800-42781200	Weak transcription	Fetal Intestine Small	intestine
48	chr8:42772800-42785800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:42773400-42781000	Weak transcription	HepG2	liver
50	chr8:42773400-42785600	Weak transcription	Liver	Liver

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