Variant report

Variant	rs57283014
Chromosome Location	chr17:16159133-16159134
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16158983..16161004-chr17:16162947..16164808,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2013857	0.87[EUR][1000 genomes]
rs2272775	0.83[ASN][1000 genomes]
rs2324305	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28372800	0.83[ASN][1000 genomes]
rs3112512	0.87[EUR][1000 genomes]
rs61360753	0.81[AFR][1000 genomes]
rs61529373	0.81[AFR][1000 genomes]
rs73281952	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281964	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
6	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
7	nsv528263	chr17:16097430-16196996	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
8	esv3326983	chr17:16138963-16210147	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	21 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	chr17:16121000-16163200	Weak transcription	Spleen	Spleen
2	chr17:16121200-16159800	Weak transcription	Lung	lung
3	chr17:16121200-16163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:16121400-16170600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr17:16121800-16163200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr17:16121800-16163200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:16122000-16163400	Weak transcription	Fetal Brain Female	brain
8	chr17:16126200-16163200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:16126200-16163400	Weak transcription	Primary B cells from cord blood	blood
10	chr17:16132200-16163200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:16132400-16163600	Weak transcription	HSMM	muscle
12	chr17:16133800-16163000	Weak transcription	Fetal Thymus	thymus
13	chr17:16133800-16176200	Weak transcription	NHEK	skin
14	chr17:16134000-16170600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr17:16134200-16162400	Weak transcription	Dnd41	blood
16	chr17:16134400-16163200	Weak transcription	Thymus	Thymus
17	chr17:16134800-16163200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr17:16138600-16163400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:16138600-16170200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr17:16139000-16163400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:16139400-16163000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:16139600-16163400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr17:16140000-16170200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr17:16143800-16160600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr17:16144000-16163000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr17:16147400-16163200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:16147400-16167000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:16147600-16163200	Weak transcription	Primary T cells from cord blood	blood
29	chr17:16148000-16159200	Weak transcription	Small Intestine	intestine
30	chr17:16151600-16160000	Weak transcription	Aorta	Aorta
31	chr17:16154400-16176600	Weak transcription	Hela-S3	cervix
32	chr17:16156600-16163400	Weak transcription	Esophagus	oesophagus
33	chr17:16157000-16161200	Enhancers	Fetal Intestine Small	intestine
34	chr17:16157400-16185200	Weak transcription	Gastric	stomach
35	chr17:16158000-16159600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr17:16158200-16159200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr17:16158200-16159200	Flanking Active TSS	Fetal Lung	lung
38	chr17:16158200-16159400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr17:16158200-16159400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr17:16158200-16159400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr17:16158200-16159400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr17:16158200-16159400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr17:16158200-16159400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:16158200-16159400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr17:16158200-16159600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:16158200-16159600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr17:16158200-16159600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr17:16158200-16160200	Enhancers	Stomach Mucosa	stomach
49	chr17:16158200-16160400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr17:16158200-16160400	Enhancers	HepG2	liver

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