Variant report

Variant	rs6471887
Chromosome Location	chr8:61432496-61432497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10504313	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11984591	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11984682	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11985737	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11987024	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11988169	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11988323	1.00[ASN][1000 genomes]
rs11988389	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11991778	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11996337	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11997369	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs16926228	0.85[ASN][1000 genomes]
rs16926248	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926250	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16926256	1.00[CHB][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926277	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926304	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926305	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926308	1.00[ASN][1000 genomes]
rs16926311	1.00[ASN][1000 genomes]
rs16926338	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2326572	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2930038	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2930041	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946149	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946150	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2981283	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60075768	0.87[ASN][1000 genomes]
rs60440859	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60504642	1.00[ASN][1000 genomes]
rs61174790	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61291329	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6987831	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7000882	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7001063	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7005259	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7016173	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73243810	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257409	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257414	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257427	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257433	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257434	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257435	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257440	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257481	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257484	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257486	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257487	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257495	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257499	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259425	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259430	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259438	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259453	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259488	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259499	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261204	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261219	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261234	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261269	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7341555	1.00[ASN][1000 genomes]
rs7341633	1.00[ASN][1000 genomes]
rs7815886	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7816273	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7825285	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7827528	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7834982	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7839008	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61428600-61434400	Active TSS	GM12878-XiMat	blood
2	chr8:61428800-61432600	Active TSS	Right Ventricle	heart
3	chr8:61428800-61433200	Active TSS	Right Atrium	heart
4	chr8:61430400-61432600	Flanking Active TSS	Fetal Brain Female	brain
5	chr8:61430400-61432800	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr8:61430600-61433400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:61430800-61432600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:61430800-61432600	Flanking Active TSS	Dnd41	blood
9	chr8:61430800-61433000	Flanking Active TSS	HUVEC	blood vessel
10	chr8:61430800-61433200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr8:61431000-61432600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr8:61431000-61432800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:61431000-61433400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:61431000-61433800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:61431000-61433800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:61431000-61435400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr8:61431000-61436600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:61431000-61438200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:61431200-61432600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr8:61431200-61432600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr8:61431200-61433000	Flanking Active TSS	Fetal Heart	heart
22	chr8:61431200-61433200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr8:61431200-61433200	Enhancers	Stomach Mucosa	stomach
24	chr8:61431200-61433400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:61431200-61433400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:61431200-61434800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:61431200-61438200	Enhancers	Primary B cells from peripheral blood	blood
28	chr8:61431400-61432600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr8:61431400-61432600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:61431400-61432600	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr8:61431400-61432800	Flanking Active TSS	Osteobl	bone
32	chr8:61431400-61433000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr8:61431400-61433000	Flanking Active TSS	A549	lung
34	chr8:61431400-61433200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:61431600-61432600	Flanking Active TSS	NH-A	brain
36	chr8:61431600-61438200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:61431600-61441600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:61431800-61432600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:61431800-61432600	Enhancers	Primary hematopoietic stem cells	blood
40	chr8:61431800-61435600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr8:61431800-61446800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:61432000-61432600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:61432000-61432600	Enhancers	Brain Angular Gyrus	brain
44	chr8:61432000-61432600	Enhancers	Fetal Brain Male	brain
45	chr8:61432000-61432600	Enhancers	Fetal Stomach	stomach
46	chr8:61432000-61432600	Enhancers	Thymus	Thymus
47	chr8:61432000-61432600	Flanking Active TSS	NHLF	lung
48	chr8:61432000-61432800	Genic enhancers	Primary B cells from cord blood	blood
49	chr8:61432000-61433000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr8:61432000-61433000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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