Variant report

Variant	rs16832545
Chromosome Location	chr1:45956681-45956682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45954972..45958180-chr1:45986651..45988959,5	K562	blood:
2	chr1:45284051..45286963-chr1:45955416..45958247,2	MCF-7	breast:
3	chr1:45284063..45286769-chr1:45955098..45956816,2	K562	blood:
4	chr1:45804942..45806889-chr1:45955165..45957556,2	K562	blood:
5	chr1:45956512..45959436-chr1:45986078..45988665,3	MCF-7	breast:
6	chr1:45956421..45957116-chr19:32896033..32896543,2	HCT-116	colon:
7	chr1:45283791..45286747-chr1:45955379..45957255,3	MCF-7	breast:
8	chr1:45954905..45960579-chr1:45960652..45966878,10	K562	blood:
9	chr1:45951915..45956979-chr1:46048471..46052743,8	K562	blood:
10	chr1:45804236..45806527-chr1:45955097..45957372,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178904	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000132763	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000236624	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000267213	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000132773	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11211125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11211127	1.00[EUR][1000 genomes]
rs12065695	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067882	1.00[EUR][1000 genomes]
rs12070890	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12073047	1.00[EUR][1000 genomes]
rs12083690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091335	1.00[EUR][1000 genomes]
rs12093444	1.00[EUR][1000 genomes]
rs12565230	1.00[EUR][1000 genomes]
rs16832540	1.00[EUR][1000 genomes]
rs16832550	1.00[EUR][1000 genomes]
rs16832557	1.00[EUR][1000 genomes]
rs16832559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1855621	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28532613	1.00[EUR][1000 genomes]
rs28674795	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2934860	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934861	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934863	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934864	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2991965	0.92[AFR][1000 genomes]
rs2991967	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2991969	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2991984	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993256	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2993260	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993261	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3014222	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3014223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3014224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3014226	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35067820	1.00[EUR][1000 genomes]
rs35103566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36053912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57910611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59050426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60347972	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60660559	1.00[EUR][1000 genomes]
rs6664588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6671347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6699702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896187	1.00[EUR][1000 genomes]
rs72898313	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898323	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7412911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7550744	1.00[EUR][1000 genomes]
rs9429080	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9429083	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9429164	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9429165	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
4	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
5	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
6	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
7	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
8	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45955000-45957400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr1:45955000-45957600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:45955200-45956800	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr1:45955200-45957400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:45955200-45957400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:45955200-45957400	Active TSS	Brain Cingulate Gyrus	brain
7	chr1:45955200-45957600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:45955200-45957600	Active TSS	Colonic Mucosa	Colon
9	chr1:45955400-45956800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr1:45955400-45956800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:45955400-45957000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:45955400-45957200	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr1:45955400-45957200	Active TSS	Brain Angular Gyrus	brain
14	chr1:45955400-45957200	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr1:45955400-45957400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:45955400-45957600	Active TSS	Fetal Intestine Large	intestine
17	chr1:45955400-45957600	Active TSS	Fetal Kidney	kidney
18	chr1:45955400-45957600	Active TSS	Ovary	ovary
19	chr1:45955600-45956800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:45955600-45957000	Active TSS	Pancreas	Pancrea
21	chr1:45955600-45957200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:45955600-45957200	Active TSS	Placenta	Placenta
23	chr1:45955600-45957400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:45955600-45957400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr1:45955600-45957600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:45955600-45957600	Active TSS	Colon Smooth Muscle	Colon
27	chr1:45955600-45957600	Active TSS	Right Atrium	heart
28	chr1:45955600-45957600	Active TSS	Right Ventricle	heart
29	chr1:45955800-45956800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:45955800-45956800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
31	chr1:45955800-45956800	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr1:45955800-45956800	Active TSS	K562	blood
33	chr1:45955800-45957200	Active TSS	Esophagus	oesophagus
34	chr1:45955800-45957200	Active TSS	Lung	lung
35	chr1:45955800-45957400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:45955800-45957400	Active TSS	Aorta	Aorta
37	chr1:45955800-45957400	Active TSS	Fetal Intestine Small	intestine
38	chr1:45955800-45957400	Active TSS	Left Ventricle	heart
39	chr1:45955800-45957400	Active TSS	GM12878-XiMat	blood
40	chr1:45955800-45957400	Active TSS	HMEC	breast
41	chr1:45955800-45957400	Active TSS	NHEK	skin
42	chr1:45955800-45957600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:45955800-45957600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:45955800-45957600	Active TSS	Duodenum Mucosa	Duodenum
45	chr1:45955800-45957600	Active TSS	Psoas Muscle	Psoas
46	chr1:45955800-45957800	Active TSS	Brain Substantia Nigra	brain
47	chr1:45955800-45957800	Active TSS	NHDF-Ad	bronchial
48	chr1:45956000-45956800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:45956000-45956800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:45956000-45956800	Bivalent/Poised TSS	Fetal Stomach	stomach

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