Variant report

Variant	rs11871017
Chromosome Location	chr17:16360782-16360783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16347394..16351602-chr17:16360256..16362846,5	K562	blood:
2	chr17:16283058..16284924-chr17:16360212..16361986,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170315	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11078342	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078343	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078344	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11078345	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11653149	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11654069	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11867498	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11869614	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11870279	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871929	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871958	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11871963	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12936240	0.84[AMR][1000 genomes]
rs12938294	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940078	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17552310	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17715447	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34166276	0.84[AMR][1000 genomes]
rs34192401	0.84[AMR][1000 genomes]
rs34419652	0.84[AMR][1000 genomes]
rs34572942	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34577506	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34779276	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34793697	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34982046	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35034622	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35247166	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35269706	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35377488	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35474528	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35540454	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35774281	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36117589	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56097826	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217211	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941411	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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
rs11871017	C17orf45	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16343800-16363400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:16344600-16372800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:16345800-16363200	Weak transcription	Small Intestine	intestine
4	chr17:16345800-16373200	Weak transcription	Psoas Muscle	Psoas
5	chr17:16346400-16362400	Weak transcription	Hela-S3	cervix
6	chr17:16346400-16362600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:16346400-16363800	Weak transcription	Fetal Kidney	kidney
8	chr17:16347000-16363000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr17:16347000-16366400	Weak transcription	NHDF-Ad	bronchial
10	chr17:16347800-16367000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:16349000-16366600	Weak transcription	Right Atrium	heart
12	chr17:16349200-16363200	Weak transcription	Stomach Mucosa	stomach
13	chr17:16350000-16366600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr17:16350200-16366600	Weak transcription	Fetal Lung	lung
15	chr17:16351400-16363000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:16352000-16365000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:16352200-16362400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:16352400-16362800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr17:16352400-16363000	Weak transcription	HMEC	breast
20	chr17:16352600-16362200	Weak transcription	HUVEC	blood vessel
21	chr17:16352600-16362800	Weak transcription	NHEK	skin
22	chr17:16352600-16363000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:16352600-16364600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr17:16352600-16365600	Weak transcription	Adipose Nuclei	Adipose
25	chr17:16352600-16367400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr17:16352600-16369800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:16352600-16380800	Weak transcription	Aorta	Aorta
28	chr17:16352800-16362200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr17:16352800-16362600	Weak transcription	Right Ventricle	heart
30	chr17:16352800-16362800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr17:16352800-16362800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr17:16352800-16363000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr17:16352800-16363000	Weak transcription	HepG2	liver
34	chr17:16352800-16363600	Weak transcription	Lung	lung
35	chr17:16352800-16365600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr17:16352800-16366400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:16352800-16366800	Weak transcription	Brain Hippocampus Middle	brain
38	chr17:16352800-16371000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr17:16352800-16375600	Weak transcription	Primary B cells from cord blood	blood
40	chr17:16352800-16376400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:16353400-16363000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr17:16353400-16363000	Weak transcription	Pancreas	Pancrea
43	chr17:16353400-16366800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:16353400-16367800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr17:16353400-16372200	Weak transcription	Osteobl	bone
46	chr17:16353600-16363800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr17:16353600-16365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr17:16354000-16370800	Weak transcription	K562	blood
49	chr17:16354400-16364200	Weak transcription	GM12878-XiMat	blood
50	chr17:16354400-16368600	Weak transcription	Esophagus	oesophagus

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