Variant report

Variant	rs13282019
Chromosome Location	chr8:42936054-42936055
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	chr8:42910109..42913983-chr8:42935455..42940036,4	K562	blood:

Variant related genes	Relation type
ENSG00000168522	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1052654	0.84[CEU][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs11986681	0.92[CEU][hapmap]
rs11987893	0.91[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs13248091	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13249741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[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]
rs13253966	1.00[AFR][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];0.84[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];0.84[EUR][1000 genomes]
rs13271956	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]
rs13273189	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13273989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13274253	1.00[MEX][hapmap]
rs13276426	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13276821	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13281651	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[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];0.84[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];0.85[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];0.82[EUR][1000 genomes]
rs2170206	0.83[CEU][hapmap]
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];0.84[EUR][1000 genomes]
rs34152125	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]
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];0.84[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];0.87[EUR][1000 genomes]
rs34320052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34550994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34582788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34668583	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34742882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34920666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35057982	0.83[EUR][1000 genomes]
rs35168459	1.00[AMR][1000 genomes];0.84[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]
rs35270980	1.00[AFR][1000 genomes]
rs35278935	1.00[AFR][1000 genomes]
rs35316170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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];0.98[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];0.82[EUR][1000 genomes]
rs35823486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35959188	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35970125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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];0.85[EUR][1000 genomes]
rs36091568	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4524778	0.85[EUR][1000 genomes]
rs62515895	1.00[AFR][1000 genomes]
rs62515900	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62515905	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62515908	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62515909	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62515910	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62515912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62515913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62515916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62515917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62515919	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62515920	0.90[AMR][1000 genomes]
rs62515948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62515952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62517590	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62517594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62517595	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62517599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62517604	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62517605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62517606	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62517626	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6474435	0.83[CEU][hapmap]
rs6988652	1.00[MEX][hapmap]
rs6999489	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7012007	0.82[CEU][hapmap]
rs71231886	0.87[EUR][1000 genomes]
rs7829867	0.92[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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
12	nsv1025336	chr8:42905623-43333638	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription 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 miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv539564	chr8:42905623-43333638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
14	nsv831302	chr8:42909483-43105520	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv1029380	chr8:42924737-43729296	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
16	nsv539565	chr8:42924737-43729296	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13282019	FNTA	Cis_1M	lymphoblastoid	RTeQTL
rs13282019	FGD6	trans	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42912800-42936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:42912800-42943800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:42912800-42948000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:42913000-42941200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:42913600-42940600	Weak transcription	Small Intestine	intestine
6	chr8:42914400-42942000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr8:42914400-42942800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:42914400-42947800	Weak transcription	Stomach Mucosa	stomach
9	chr8:42914800-42942800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:42915200-42942000	Strong transcription	Fetal Intestine Large	intestine
11	chr8:42915400-42947200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:42916200-42941600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:42916200-42942000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:42916400-42941600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:42916400-42942200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:42916800-42937000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:42916800-42942000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:42916800-42942800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:42917000-42942800	Strong transcription	Fetal Stomach	stomach
20	chr8:42917200-42941600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:42917600-42941600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr8:42917600-42941600	Strong transcription	Dnd41	blood
23	chr8:42917600-42941800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:42917600-42941800	Strong transcription	Adipose Nuclei	Adipose
25	chr8:42917600-42942000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:42917600-42942000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:42917600-42942800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:42917800-42936400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:42917800-42941400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:42917800-42941600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr8:42917800-42941600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr8:42917800-42941800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:42917800-42941800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr8:42917800-42942000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr8:42917800-42942400	Strong transcription	Placenta	Placenta
36	chr8:42917800-42943000	Strong transcription	Fetal Brain Female	brain
37	chr8:42918000-42941600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:42918600-42936600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:42919000-42937000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:42919000-42942000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:42919000-42943000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:42921000-42942600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:42921600-42936400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:42922400-42941600	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr8:42922600-42942800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr8:42922800-42941600	Strong transcription	Primary B cells from cord blood	blood
47	chr8:42923200-42938600	Weak transcription	Aorta	Aorta
48	chr8:42923600-42941600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:42923600-42942800	Strong transcription	Fetal Muscle Leg	muscle
50	chr8:42923800-42936600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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