Variant report

Variant	rs17778440
Chromosome Location	chr5:100113071-100113072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10478648	0.92[AMR][1000 genomes]
rs17159001	0.89[EUR][1000 genomes]
rs17160818	0.91[AMR][1000 genomes]
rs17719528	0.83[AMR][1000 genomes]
rs17720901	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17721341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17721790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17722713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17722756	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17723146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17725086	1.00[AMR][1000 genomes]
rs17725882	1.00[AMR][1000 genomes]
rs17726376	1.00[AMR][1000 genomes]
rs17775827	0.83[AMR][1000 genomes]
rs17775983	0.83[AMR][1000 genomes]
rs17776515	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17776916	0.85[EUR][1000 genomes]
rs17777079	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17777349	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17778120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17778217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17778313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17778487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17778598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17778786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17779305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17779694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17779731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17780072	1.00[AMR][1000 genomes]
rs17780121	1.00[AMR][1000 genomes]
rs17780854	1.00[AMR][1000 genomes]
rs17780992	1.00[AMR][1000 genomes]
rs17781289	1.00[AMR][1000 genomes]
rs17782650	1.00[AMR][1000 genomes]
rs57652761	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6864470	1.00[AFR][1000 genomes]
rs6866516	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73777435	1.00[AMR][1000 genomes]
rs73777437	1.00[AMR][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	nsv948969	chr5:99534096-100133827	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1017420	chr5:99745775-100133140	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv537825	chr5:99745775-100133140	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	esv2762532	chr5:100041758-100136552	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100109200-100113200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:100109200-100113200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:100109200-100113200	Weak transcription	Fetal Kidney	kidney
4	chr5:100110800-100113600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:100111200-100113200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:100111200-100113400	Enhancers	Primary B cells from cord blood	blood
7	chr5:100111400-100114400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr5:100111400-100114400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:100111400-100114800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr5:100111600-100113400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:100111800-100113200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:100112000-100114000	Enhancers	HMEC	breast
13	chr5:100112200-100113200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:100112200-100113200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:100112200-100113200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:100112200-100113200	Weak transcription	A549	lung
17	chr5:100112200-100113200	Enhancers	HUVEC	blood vessel
18	chr5:100112200-100113200	Enhancers	Osteobl	bone
19	chr5:100112200-100113400	Enhancers	Hela-S3	cervix
20	chr5:100112200-100113400	Enhancers	NHEK	skin
21	chr5:100112200-100113800	Enhancers	NHLF	lung
22	chr5:100112200-100114000	Enhancers	NHDF-Ad	bronchial
23	chr5:100112400-100113200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:100112600-100113400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:100112600-100113400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr5:100112800-100113800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:100113000-100113200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:100113000-100113400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:100113000-100113400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:100113000-100113600	Enhancers	NH-A	brain
31	chr5:100113000-100113800	Flanking Active TSS	Dnd41	blood
32	chr5:100113000-100114000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:100113000-100114000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:100113000-100114000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:100113000-100114000	Flanking Active TSS	GM12878-XiMat	blood
36	chr5:100113000-100114000	Enhancers	HSMM	muscle
37	chr5:100113000-100114200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:100113000-100114200	Enhancers	Primary T cells from cord blood	blood
39	chr5:100113000-100114200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:100113000-100114200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr5:100113000-100114200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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