Variant report

Variant	rs11869614
Chromosome Location	chr17:16355043-16355044
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:16341231-16355258	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr17:16341165-16355366	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16282285..16286163-chr17:16348924..16355139,5	K562	blood:
2	chr17:16283332..16285598-chr17:16353713..16355726,2	MCF-7	breast:

Variant related genes	Relation type
FAM211A	TF binding region
ENSG00000170315	Chromatin interaction
ENSG00000265401	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1029809	1.00[JPT][hapmap]
rs11078342	0.95[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078343	0.95[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078344	0.90[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11078345	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11650427	1.00[JPT][hapmap]
rs11653149	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11654069	0.83[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11867498	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11870279	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871017	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871929	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871958	0.86[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11871963	0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12938294	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940078	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17552310	0.90[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17715447	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34572942	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34577506	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34779276	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34793697	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34982046	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35034622	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35247166	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35269706	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35377488	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35474528	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35540454	0.87[EUR][1000 genomes]
rs35774281	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36117589	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56097826	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217211	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941411	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.99[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11869614	C17orf45	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 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	chr17:16347000-16356800	Weak transcription	HSMMtube	muscle
9	chr17:16347000-16363000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:16347000-16366400	Weak transcription	NHDF-Ad	bronchial
11	chr17:16347400-16356400	Weak transcription	Fetal Brain Male	brain
12	chr17:16347800-16367000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:16348000-16356600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr17:16349000-16355800	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr17:16349000-16366600	Weak transcription	Right Atrium	heart
16	chr17:16349200-16363200	Weak transcription	Stomach Mucosa	stomach
17	chr17:16349600-16356800	Strong transcription	Fetal Intestine Small	intestine
18	chr17:16349800-16356600	Weak transcription	Fetal Heart	heart
19	chr17:16350000-16366600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr17:16350200-16366600	Weak transcription	Fetal Lung	lung
21	chr17:16351400-16363000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr17:16352000-16356600	Weak transcription	Brain Substantia Nigra	brain
23	chr17:16352000-16365000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:16352200-16362400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:16352400-16357000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:16352400-16362800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr17:16352400-16363000	Weak transcription	HMEC	breast
28	chr17:16352600-16355800	Weak transcription	Colon Smooth Muscle	Colon
29	chr17:16352600-16356200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr17:16352600-16356400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr17:16352600-16356400	Weak transcription	Ovary	ovary
32	chr17:16352600-16356600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr17:16352600-16356800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr17:16352600-16356800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:16352600-16356800	Weak transcription	Left Ventricle	heart
36	chr17:16352600-16359200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr17:16352600-16359800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr17:16352600-16360000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr17:16352600-16360200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr17:16352600-16360400	Weak transcription	Placenta	Placenta
41	chr17:16352600-16362200	Weak transcription	HUVEC	blood vessel
42	chr17:16352600-16362800	Weak transcription	NHEK	skin
43	chr17:16352600-16363000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr17:16352600-16364600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr17:16352600-16365600	Weak transcription	Adipose Nuclei	Adipose
46	chr17:16352600-16367400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr17:16352600-16369800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr17:16352600-16380800	Weak transcription	Aorta	Aorta
49	chr17:16352800-16356200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr17:16352800-16356400	Weak transcription	Primary B cells from peripheral blood	blood

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