Variant report

Variant	rs13256221
Chromosome Location	chr8:42742499-42742500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

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];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13249741	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13251524	1.00[CEU][hapmap]
rs13252221	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[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];0.89[AMR][1000 genomes];0.84[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];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13271956	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13273189	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13273989	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13276426	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13276821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13281651	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[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];0.89[AMR][1000 genomes];0.84[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];1.00[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];0.89[AMR][1000 genomes];0.98[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];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34044853	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[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];0.89[AMR][1000 genomes];1.00[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];0.89[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];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34242561	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]
rs34320052	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34550994	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34582788	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34668583	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34742882	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34920666	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35057982	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35168459	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35236316	1.00[AFR][1000 genomes]
rs35258203	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs35278935	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs35316170	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[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];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35441746	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35491765	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35823486	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35959188	0.85[EUR][1000 genomes]
rs35970125	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[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];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36091568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4524778	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515895	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs62515897	0.89[AMR][1000 genomes]
rs62515900	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62515905	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62515908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515912	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515913	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515916	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515917	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515919	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515920	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62515948	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515952	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62517590	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62517594	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62517595	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62517599	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62517604	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62517605	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62517606	0.89[AMR][1000 genomes]
rs62517626	0.89[AMR][1000 genomes]
rs6999489	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7014595	0.92[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs71231886	0.89[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:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription 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 miRNA	36 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42699400-42745800	Weak transcription	Fetal Heart	heart
2	chr8:42699400-42745800	Weak transcription	Small Intestine	intestine
3	chr8:42699400-42750600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:42699600-42748600	Weak transcription	HMEC	breast
5	chr8:42708400-42749000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:42711400-42745800	Weak transcription	Stomach Mucosa	stomach
7	chr8:42711600-42748600	Weak transcription	Fetal Thymus	thymus
8	chr8:42712600-42746000	Weak transcription	NHDF-Ad	bronchial
9	chr8:42713200-42745800	Weak transcription	HUVEC	blood vessel
10	chr8:42714000-42744800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:42714000-42746200	Weak transcription	NHLF	lung
12	chr8:42714600-42748400	Weak transcription	Fetal Brain Male	brain
13	chr8:42717000-42748800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:42718600-42745800	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:42719200-42745800	Weak transcription	Pancreas	Pancrea
16	chr8:42719400-42746000	Weak transcription	NH-A	brain
17	chr8:42719800-42742800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:42719800-42750600	Weak transcription	Esophagus	oesophagus
19	chr8:42720200-42748800	Weak transcription	Colonic Mucosa	Colon
20	chr8:42725200-42745800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:42725200-42745800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:42725400-42744800	Weak transcription	Brain Angular Gyrus	brain
23	chr8:42725400-42746000	Weak transcription	HSMM	muscle
24	chr8:42725400-42747000	Weak transcription	Spleen	Spleen
25	chr8:42725400-42748800	Weak transcription	Right Ventricle	heart
26	chr8:42726000-42748400	Weak transcription	Fetal Kidney	kidney
27	chr8:42729400-42744400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:42734000-42742800	Strong transcription	Placenta	Placenta
29	chr8:42734000-42748800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:42736800-42747000	Weak transcription	Psoas Muscle	Psoas
31	chr8:42736800-42748400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:42736800-42748800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:42737200-42748600	Weak transcription	Thymus	Thymus
34	chr8:42738200-42744600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:42738200-42747000	Weak transcription	Left Ventricle	heart
36	chr8:42738200-42748600	Weak transcription	Lung	lung
37	chr8:42738200-42750400	Weak transcription	Gastric	stomach
38	chr8:42738400-42748600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:42739600-42743000	Strong transcription	Liver	Liver
40	chr8:42739800-42743000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:42740000-42742800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:42740200-42742800	Strong transcription	Fetal Brain Female	brain
43	chr8:42740200-42742800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr8:42740200-42743000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:42740200-42743000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr8:42740200-42743000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:42740200-42743000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr8:42740200-42743200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:42740200-42743200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:42740800-42744400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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