Variant report

Variant	rs57381510
Chromosome Location	chr17:16166809-16166810
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16165701..16168526-chr17:16175025..16177234,2	K562	blood:

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

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

rs_ID	r²[population]
rs10852834	0.84[ASN][1000 genomes]
rs12150564	0.81[ASN][1000 genomes]
rs12936529	0.84[ASN][1000 genomes]
rs2324307	0.83[ASN][1000 genomes]
rs55840764	0.81[AFR][1000 genomes]
rs56948258	0.81[AFR][1000 genomes]
rs60211353	0.81[AFR][1000 genomes]
rs7210990	0.84[ASN][1000 genomes]
rs9910148	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	esv3415695	chr17:16166580-16167032	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 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	chr17:16159400-16189200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:16159600-16172800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:16159600-16188800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr17:16159600-16189000	Weak transcription	Brain Anterior Caudate	brain
14	chr17:16159800-16172800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:16160000-16183000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr17:16160400-16170600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:16160400-16188400	Weak transcription	Liver	Liver
18	chr17:16161200-16168200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr17:16161200-16168400	Weak transcription	Fetal Intestine Large	intestine
20	chr17:16163200-16171200	Weak transcription	Fetal Lung	lung
21	chr17:16163400-16189200	Weak transcription	Left Ventricle	heart
22	chr17:16163600-16189200	Weak transcription	Pancreas	Pancrea
23	chr17:16163800-16170600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:16163800-16171400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:16164000-16169000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:16164000-16169200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr17:16164000-16170000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr17:16164000-16170600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr17:16164000-16170600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr17:16164000-16170600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr17:16164000-16170600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:16164000-16170800	Weak transcription	Fetal Thymus	thymus
33	chr17:16164000-16171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:16164000-16176400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:16164000-16176400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr17:16164000-16180800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:16164000-16182400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr17:16164000-16182400	Weak transcription	Fetal Muscle Leg	muscle
39	chr17:16164000-16185000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr17:16164000-16189000	Weak transcription	Fetal Brain Female	brain
41	chr17:16164000-16189000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr17:16164200-16170200	Weak transcription	Primary B cells from cord blood	blood
43	chr17:16164200-16170600	Weak transcription	Primary T cells from cord blood	blood
44	chr17:16164200-16170600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr17:16164200-16171200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr17:16164200-16182200	Weak transcription	Fetal Stomach	stomach
47	chr17:16164600-16170200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr17:16164600-16176000	Weak transcription	Fetal Intestine Small	intestine
49	chr17:16164600-16182200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr17:16165400-16171200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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