Variant report

Variant	rs4294157
Chromosome Location	chr8:105743614-105743615
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	chr8:105735898..105738582-chr8:105741315..105744183,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1000420	0.83[CHB][hapmap]
rs1000421	0.83[CHB][hapmap]
rs10102865	0.83[CHB][hapmap]
rs10103495	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10505064	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10955358	0.83[ASN][1000 genomes]
rs11783360	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12542435	0.82[CHB][hapmap]
rs13250808	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13261792	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13271748	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1370797	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1438343	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1442497	0.85[ASN][1000 genomes]
rs1992211	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1992214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118603	0.83[CHB][hapmap]
rs28548678	0.86[ASN][1000 genomes]
rs3847142	0.86[ASN][1000 genomes]
rs3847143	0.83[CHB][hapmap]
rs3847144	0.86[ASN][1000 genomes]
rs3910535	0.81[ASN][1000 genomes]
rs4734809	0.85[ASN][1000 genomes]
rs4734810	0.83[CHB][hapmap]
rs4734811	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4734812	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4734817	0.92[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6983576	0.86[ASN][1000 genomes]
rs6984657	0.96[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs6994484	0.85[ASN][1000 genomes]
rs7014956	0.85[ASN][1000 genomes]
rs725403	0.85[ASN][1000 genomes]
rs7826497	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7845583	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105736200-105743800	Weak transcription	Fetal Brain Female	brain
2	chr8:105739400-105743800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr8:105742000-105744000	Enhancers	Fetal Brain Male	brain
4	chr8:105743200-105744000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:105743200-105744400	Enhancers	HMEC	breast
6	chr8:105743200-105744600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:105743200-105745200	Enhancers	NHEK	skin
8	chr8:105743400-105743800	Enhancers	Brain Hippocampus Middle	brain
9	chr8:105743400-105744000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:105743400-105744000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:105743400-105744000	Enhancers	Brain Angular Gyrus	brain
12	chr8:105743400-105744000	Enhancers	Brain Anterior Caudate	brain
13	chr8:105743400-105744000	Enhancers	Brain Cingulate Gyrus	brain
14	chr8:105743400-105744000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr8:105743400-105744000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:105743400-105744200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr8:105743400-105744400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:105743400-105744400	Enhancers	Thymus	Thymus
19	chr8:105743400-105744600	Enhancers	Fetal Thymus	thymus
20	chr8:105743400-105744800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:105743400-105744800	Enhancers	Brain Germinal Matrix	brain
22	chr8:105743400-105744800	Enhancers	NH-A	brain
23	chr8:105743600-105744000	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr8:105743600-105744000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:105743600-105744400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:105743600-105744600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr8:105743600-105744600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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