Variant report

Variant	rs73281964
Chromosome Location	chr17:16163933-16163934
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	chr17:16158983..16161004-chr17:16162947..16164808,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2013857	0.87[EUR][1000 genomes]
rs2272775	0.83[ASN][1000 genomes]
rs2324305	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28372800	0.83[ASN][1000 genomes]
rs3112512	0.87[EUR][1000 genomes]
rs57283014	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281952	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv907719	chr17:16161036-16185122	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16121400-16170600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr17:16133800-16176200	Weak transcription	NHEK	skin
3	chr17:16134000-16170600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr17:16138600-16170200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr17:16140000-16170200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr17:16147400-16167000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr17:16154400-16176600	Weak transcription	Hela-S3	cervix
8	chr17:16157400-16185200	Weak transcription	Gastric	stomach
9	chr17:16159200-16178400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:16159400-16165400	Weak transcription	NHDF-Ad	bronchial
11	chr17:16159400-16189200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr17:16159600-16166000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:16159600-16172800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:16159600-16188800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr17:16159600-16189000	Weak transcription	Brain Anterior Caudate	brain
16	chr17:16159800-16172800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:16160000-16183000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr17:16160200-16165400	Weak transcription	Fetal Heart	heart
19	chr17:16160400-16170600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr17:16160400-16188400	Weak transcription	Liver	Liver
21	chr17:16161200-16168200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr17:16161200-16168400	Weak transcription	Fetal Intestine Large	intestine
23	chr17:16161800-16164000	Enhancers	Adipose Nuclei	Adipose
24	chr17:16162000-16164000	Enhancers	Fetal Muscle Leg	muscle
25	chr17:16162400-16164200	ZNF genes & repeats	Dnd41	blood
26	chr17:16162800-16164000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:16162800-16164000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr17:16163000-16164000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:16163000-16164000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:16163000-16164000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr17:16163000-16164000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:16163000-16164000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:16163000-16164000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr17:16163000-16164000	ZNF genes & repeats	Fetal Thymus	thymus
35	chr17:16163000-16164000	Enhancers	Psoas Muscle	Psoas
36	chr17:16163000-16164000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr17:16163000-16164000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr17:16163000-16164200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:16163000-16164600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr17:16163200-16164000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr17:16163200-16164000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:16163200-16164000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:16163200-16164000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:16163200-16164000	ZNF genes & repeats	Thymus	Thymus
45	chr17:16163200-16164200	Strong transcription	Primary T cells from cord blood	blood
46	chr17:16163200-16164200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr17:16163200-16164200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr17:16163200-16164200	ZNF genes & repeats	Fetal Stomach	stomach
49	chr17:16163200-16171200	Weak transcription	Fetal Lung	lung
50	chr17:16163400-16164000	ZNF genes & repeats	Primary B cells from peripheral blood	blood

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