Variant report

Variant	rs17027450
Chromosome Location	chr2:63101649-63101650
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	chr2:63100581..63102591-chr2:63109262..63110838,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11891134	1.00[AMR][1000 genomes]
rs11897498	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11901070	0.83[ASW][hapmap];0.91[YRI][hapmap]
rs17027529	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17027615	0.84[YRI][hapmap]
rs17474231	1.00[YRI][hapmap]
rs2068312	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2102517	0.84[AFR][1000 genomes]
rs4487076	1.00[AMR][1000 genomes]
rs57093504	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59793326	1.00[AMR][1000 genomes]
rs72888917	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888944	0.81[AFR][1000 genomes]
rs72888961	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS 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	15 gene(s)	inside rSNPs	diseases
5	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63046400-63101800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:63061200-63115200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:63061400-63102000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:63072600-63101800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:63076400-63101800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:63079000-63101800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:63079400-63102000	Weak transcription	HSMMtube	muscle
8	chr2:63082000-63104200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:63082400-63102000	Weak transcription	Aorta	Aorta
10	chr2:63082800-63101800	Weak transcription	Fetal Thymus	thymus
11	chr2:63082800-63102000	Weak transcription	Thymus	Thymus
12	chr2:63083200-63102000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:63083600-63102000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:63083600-63102000	Weak transcription	Spleen	Spleen
15	chr2:63083800-63102000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:63083800-63102000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:63083800-63102000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:63083800-63102000	Weak transcription	Fetal Brain Female	brain
19	chr2:63083800-63102000	Weak transcription	Gastric	stomach
20	chr2:63084200-63101800	Weak transcription	Right Ventricle	heart
21	chr2:63084200-63102000	Weak transcription	Pancreas	Pancrea
22	chr2:63090600-63102000	Weak transcription	Lung	lung
23	chr2:63091400-63101800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:63091600-63102000	Weak transcription	Small Intestine	intestine
25	chr2:63092800-63102000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:63092800-63104000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:63093400-63101800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:63093400-63101800	Weak transcription	Left Ventricle	heart
29	chr2:63093400-63101800	Weak transcription	Ovary	ovary
30	chr2:63093400-63102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:63093400-63102000	Weak transcription	Esophagus	oesophagus
32	chr2:63093600-63101800	Weak transcription	Brain Germinal Matrix	brain
33	chr2:63093600-63103800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:63094000-63101800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:63094000-63102000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:63094000-63102000	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:63094200-63101800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:63096200-63101800	Weak transcription	Fetal Stomach	stomach
39	chr2:63098200-63108200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:63098400-63114400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:63099000-63102400	ZNF genes & repeats	A549	lung
42	chr2:63099600-63112200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:63099800-63102200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:63099800-63104200	ZNF genes & repeats	Dnd41	blood
45	chr2:63099800-63104600	Strong transcription	Osteobl	bone
46	chr2:63099800-63106600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:63099800-63106600	Strong transcription	NH-A	brain
48	chr2:63099800-63107400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:63100000-63102400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr2:63100000-63102800	Strong transcription	Primary B cells from cord blood	blood

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