Variant report

Variant	rs34242561
Chromosome Location	chr8:42877610-42877611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42877169..42878990-chr8:42881083..42882682,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1052654	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs11986681	0.92[CEU][hapmap]
rs11987893	0.91[CEU][hapmap];0.86[GIH][hapmap];0.81[TSI][hapmap]
rs13248091	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13249741	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13251524	1.00[CEU][hapmap]
rs13252221	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13253966	1.00[AFR][1000 genomes]
rs13256221	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13257298	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs13260731	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13269584	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13271956	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13273189	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13273989	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13276426	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13276821	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13281651	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13282019	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16891663	0.92[CEU][hapmap]
rs16891667	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs17622577	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]
rs17622732	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34044853	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34133016	1.00[AFR][1000 genomes]
rs34143633	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34152125	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]
rs34208103	1.00[AFR][1000 genomes]
rs34210297	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34320052	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34550994	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34582788	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34668583	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34742882	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs34920666	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35057982	0.92[EUR][1000 genomes]
rs35168459	0.95[AMR][1000 genomes];0.96[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];0.89[AMR][1000 genomes]
rs35270980	1.00[AFR][1000 genomes]
rs35278935	1.00[AFR][1000 genomes]
rs35316170	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35390123	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]
rs35441746	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35444991	1.00[AFR][1000 genomes]
rs35491765	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35823486	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35959188	0.89[EUR][1000 genomes]
rs35970125	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[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];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36091568	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4524778	0.94[EUR][1000 genomes]
rs62515895	1.00[AFR][1000 genomes]
rs62515900	1.00[AFR][1000 genomes]
rs62515905	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62515908	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62515909	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62515910	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62515912	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62515913	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62515916	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62515917	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62515919	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62515920	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62515948	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62515952	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62517590	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62517594	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62517595	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62517599	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62517604	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62517605	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62517606	0.95[AMR][1000 genomes]
rs62517626	0.95[AMR][1000 genomes]
rs6999489	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs7014595	0.92[CEU][hapmap];1.00[TSI][hapmap]
rs71231886	0.93[EUR][1000 genomes]
rs71521598	1.00[AFR][1000 genomes]
rs7829867	0.92[CEU][hapmap];0.86[GIH][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34242561	FNTA	Cis_1M	lymphoblastoid	RTeQTL
rs34242561	FGD6	trans	lymphoblastoid	seeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42847000-42889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:42847200-42886800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr8:42848400-42879600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:42859000-42891600	Weak transcription	Small Intestine	intestine
5	chr8:42860400-42883200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:42861400-42883200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:42861600-42881800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:42862200-42877800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr8:42862400-42877800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:42862400-42878000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:42862400-42881000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:42862400-42883000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:42862400-42883200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:42862400-42884600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:42863000-42878000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:42863000-42881600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:42863000-42883200	Strong transcription	Adipose Nuclei	Adipose
18	chr8:42863000-42883200	Strong transcription	Placenta	Placenta
19	chr8:42863400-42879400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:42864000-42883200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:42864000-42889400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:42864200-42877800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr8:42864200-42881400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:42866000-42889400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:42866200-42889600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:42867200-42889400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:42867400-42884200	Weak transcription	Colonic Mucosa	Colon
28	chr8:42867600-42884200	Weak transcription	A549	lung
29	chr8:42868000-42889400	Weak transcription	NHEK	skin
30	chr8:42868000-42891600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:42869000-42882600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:42869200-42883400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:42870200-42882200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:42870200-42890800	Weak transcription	Fetal Brain Male	brain
35	chr8:42870600-42880400	Weak transcription	Right Ventricle	heart
36	chr8:42872000-42881000	Strong transcription	Dnd41	blood
37	chr8:42872200-42877800	Strong transcription	Primary B cells from cord blood	blood
38	chr8:42873200-42889600	Weak transcription	Aorta	Aorta
39	chr8:42873600-42879000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr8:42873800-42878400	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:42873800-42878800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:42873800-42879000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:42873800-42880600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:42873800-42887600	Weak transcription	HepG2	liver
45	chr8:42873800-42889400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:42873800-42889400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:42873800-42889400	Weak transcription	Ovary	ovary
48	chr8:42873800-42889400	Weak transcription	Thymus	Thymus
49	chr8:42873800-42889400	Weak transcription	Spleen	Spleen
50	chr8:42873800-42891000	Weak transcription	NHLF	lung

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