Variant report

Variant	rs34850018
Chromosome Location	chr17:16372769-16372770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16364278..16365887-chr17:16371896..16373963,2	MCF-7	breast:
2	chr17:16371050..16373790-chr17:16387962..16391461,3	MCF-7	breast:
3	chr17:16371906..16374775-chr17:16376944..16379509,3	K562	blood:
4	chr17:16371906..16374775-chr17:16377113..16379509,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11078344	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11078345	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11653149	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11654069	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11867498	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17715447	0.80[EUR][1000 genomes]
rs34793697	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34982046	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35034622	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36117589	0.82[EUR][1000 genomes];0.92[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	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
rs34850018	C17orf45	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

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	chr17:16352600-16380800	Weak transcription	Aorta	Aorta
4	chr17:16352800-16375600	Weak transcription	Primary B cells from cord blood	blood
5	chr17:16352800-16376400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:16356800-16377600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr17:16360600-16377200	Weak transcription	Thymus	Thymus
8	chr17:16361000-16376400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:16363800-16377000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr17:16363800-16377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:16364000-16375800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr17:16365000-16377200	Weak transcription	Fetal Thymus	thymus
13	chr17:16365000-16377400	Weak transcription	NHLF	lung
14	chr17:16365800-16375000	Genic enhancers	Fetal Intestine Small	intestine
15	chr17:16366000-16372800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr17:16366800-16373000	Weak transcription	Brain Angular Gyrus	brain
17	chr17:16366800-16373800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:16367200-16373400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr17:16367200-16374200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr17:16367400-16374400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr17:16367400-16375400	Weak transcription	Fetal Lung	lung
22	chr17:16367400-16376600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:16367400-16376600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr17:16367400-16380600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:16367600-16373200	Weak transcription	Brain Germinal Matrix	brain
26	chr17:16367600-16376000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr17:16367600-16376400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr17:16367800-16373200	Weak transcription	Fetal Brain Male	brain
29	chr17:16367800-16373400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:16368000-16372800	Weak transcription	Fetal Brain Female	brain
31	chr17:16368400-16373000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr17:16368400-16373800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr17:16368400-16374600	Weak transcription	Primary T cells from cord blood	blood
34	chr17:16368600-16380600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr17:16368800-16372800	Weak transcription	Brain Substantia Nigra	brain
36	chr17:16369000-16380400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr17:16369200-16372800	Weak transcription	Fetal Stomach	stomach
38	chr17:16369400-16373800	Weak transcription	NHDF-Ad	bronchial
39	chr17:16369600-16372800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr17:16369600-16373600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr17:16369800-16372800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:16369800-16372800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:16369800-16372800	Weak transcription	Fetal Heart	heart
44	chr17:16369800-16372800	Weak transcription	Placenta	Placenta
45	chr17:16369800-16372800	Weak transcription	Left Ventricle	heart
46	chr17:16369800-16373000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr17:16369800-16373000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr17:16369800-16373000	Weak transcription	Right Atrium	heart
49	chr17:16369800-16373800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:16369800-16374400	Weak transcription	HSMMtube	muscle

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