Variant report

Variant	rs17715447
Chromosome Location	chr17:16367370-16367371
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16351355..16353963-chr17:16365954..16368312,2	K562	blood:
2	chr17:16363662..16365633-chr17:16366066..16368741,2	MCF-7	breast:
3	chr17:16342050..16344822-chr17:16364183..16367713,3	MCF-7	breast:
4	chr17:16361476..16364289-chr17:16366070..16368810,2	MCF-7	breast:
5	chr17:16366570..16369549-chr17:16387763..16390396,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181350	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000266651	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11078342	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11078343	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11078344	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11078345	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11653149	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11654069	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11867498	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11869614	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11870279	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11871017	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11871929	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11871958	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11871963	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12938294	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12940078	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17552310	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34572942	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34577506	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34779276	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34793697	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34850018	0.80[EUR][1000 genomes]
rs34982046	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35034622	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35247166	0.86[EUR][1000 genomes]
rs35269706	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35377488	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35474528	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35774281	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36117589	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56097826	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7217211	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs941411	0.81[AMR][1000 genomes];0.88[EUR][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	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv1065254	chr17:16252880-16389930	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
9	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
10	nsv1063941	chr17:16357086-16424098	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17715447	C17orf45	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16344600-16372800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:16345800-16373200	Weak transcription	Psoas Muscle	Psoas
3	chr17:16352600-16367400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr17:16352600-16369800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:16352600-16380800	Weak transcription	Aorta	Aorta
6	chr17:16352800-16371000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr17:16352800-16375600	Weak transcription	Primary B cells from cord blood	blood
8	chr17:16352800-16376400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:16353400-16367800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr17:16353400-16372200	Weak transcription	Osteobl	bone
11	chr17:16354000-16370800	Weak transcription	K562	blood
12	chr17:16354400-16368600	Weak transcription	Esophagus	oesophagus
13	chr17:16356800-16377600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr17:16360600-16377200	Weak transcription	Thymus	Thymus
15	chr17:16361000-16376400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:16362400-16367800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:16362600-16368200	Weak transcription	Brain Anterior Caudate	brain
18	chr17:16363600-16368400	Strong transcription	Primary T cells from cord blood	blood
19	chr17:16363800-16368400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr17:16363800-16377000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr17:16363800-16377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:16364000-16375800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr17:16364200-16369400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr17:16364400-16367400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:16364400-16370000	Enhancers	HepG2	liver
26	chr17:16365000-16368200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr17:16365000-16369800	Genic enhancers	Fetal Muscle Leg	muscle
28	chr17:16365000-16377200	Weak transcription	Fetal Thymus	thymus
29	chr17:16365000-16377400	Weak transcription	NHLF	lung
30	chr17:16365400-16368200	Enhancers	Pancreas	Pancrea
31	chr17:16365400-16369400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr17:16365400-16369800	Enhancers	Placenta	Placenta
33	chr17:16365600-16368000	Enhancers	HSMM	muscle
34	chr17:16365600-16369000	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr17:16365600-16369800	Enhancers	Adipose Nuclei	Adipose
36	chr17:16365800-16367400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr17:16365800-16367600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:16365800-16367600	Genic enhancers	Fetal Stomach	stomach
39	chr17:16365800-16369200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr17:16365800-16369400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:16365800-16369800	Enhancers	Fetal Heart	heart
42	chr17:16365800-16375000	Genic enhancers	Fetal Intestine Small	intestine
43	chr17:16366000-16367400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:16366000-16368200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr17:16366000-16369800	Enhancers	HSMMtube	muscle
46	chr17:16366000-16372800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr17:16366200-16367800	Enhancers	Fetal Brain Male	brain
48	chr17:16366200-16369200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr17:16366200-16369400	Enhancers	Stomach Mucosa	stomach
50	chr17:16366200-16369600	Enhancers	Duodenum Mucosa	Duodenum

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