Variant report

Variant	rs16832557
Chromosome Location	chr1:45978923-45978924
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45977514..45980437-chr1:46009344..46010856,2	K562	blood:
2	chr1:45975860..45989626-chr1:46030076..46041078,36	K562	blood:
3	chr1:45978802..45980434-chr1:45986025..45987714,2	MCF-7	breast:
4	chr1:45975860..45980379-chr1:46034172..46039771,7	K562	blood:
5	chr1:45976870..45989534-chr1:46007918..46019226,54	K562	blood:
6	chr1:45976261..45980461-chr1:45986473..45989288,6	MCF-7	breast:
7	chr1:45974558..45995867-chr1:46046173..46057010,94	K562	blood:
8	chr1:45974971..45980027-chr1:46048272..46053531,9	K562	blood:
9	chr1:45976468..45980834-chr1:46032613..46036060,5	MCF-7	breast:
10	chr1:45978551..45980398-chr1:46076201..46078334,2	K562	blood:
11	chr1:45978447..45985278-chr1:46015169..46019739,8	MCF-7	breast:
12	chr1:45978557..45980189-chr1:45980420..45982828,2	MCF-7	breast:
13	chr1:45977968..45978937-chr1:46035446..46036373,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000132780	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000117450	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs11211125	1.00[EUR][1000 genomes]
rs11211127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11211144	1.00[AMR][1000 genomes]
rs11211148	1.00[AMR][1000 genomes]
rs11211153	1.00[AMR][1000 genomes]
rs11211154	1.00[AMR][1000 genomes]
rs11211155	1.00[AMR][1000 genomes]
rs11211156	1.00[AMR][1000 genomes]
rs11211167	1.00[AMR][1000 genomes]
rs12057167	1.00[AMR][1000 genomes]
rs12060056	1.00[AMR][1000 genomes]
rs12061890	1.00[AMR][1000 genomes]
rs12063380	1.00[AMR][1000 genomes]
rs12064908	1.00[AMR][1000 genomes]
rs12065695	1.00[EUR][1000 genomes]
rs12066809	1.00[EUR][1000 genomes]
rs12067882	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12070146	1.00[AMR][1000 genomes]
rs12070177	1.00[AMR][1000 genomes]
rs12070890	1.00[EUR][1000 genomes]
rs12073045	1.00[AMR][1000 genomes]
rs12073047	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073132	1.00[AMR][1000 genomes]
rs12077112	1.00[AMR][1000 genomes]
rs12080482	1.00[AMR][1000 genomes]
rs12081121	1.00[AMR][1000 genomes]
rs12082672	1.00[AMR][1000 genomes]
rs12083690	1.00[EUR][1000 genomes]
rs12085372	1.00[AMR][1000 genomes]
rs12086880	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12088810	1.00[AMR][1000 genomes]
rs12091335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091360	1.00[AMR][1000 genomes]
rs12093444	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094011	1.00[AMR][1000 genomes]
rs12097914	1.00[AMR][1000 genomes]
rs12565230	1.00[EUR][1000 genomes]
rs16832540	1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16832545	1.00[EUR][1000 genomes]
rs16832550	1.00[ASW][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16832553	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832559	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1691225	1.00[AMR][1000 genomes]
rs1691226	1.00[AMR][1000 genomes]
rs1691227	1.00[AMR][1000 genomes]
rs1762087	1.00[AMR][1000 genomes]
rs1855621	1.00[EUR][1000 genomes]
rs2782489	1.00[AMR][1000 genomes]
rs28532613	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28607905	1.00[AMR][1000 genomes]
rs2934860	1.00[EUR][1000 genomes]
rs2934861	1.00[EUR][1000 genomes]
rs2934863	1.00[EUR][1000 genomes]
rs2934864	1.00[EUR][1000 genomes]
rs2991967	1.00[EUR][1000 genomes]
rs2991969	1.00[EUR][1000 genomes]
rs2991984	1.00[EUR][1000 genomes]
rs2993256	1.00[EUR][1000 genomes]
rs2993260	1.00[EUR][1000 genomes]
rs2993261	1.00[EUR][1000 genomes]
rs3014222	1.00[EUR][1000 genomes]
rs3014223	1.00[EUR][1000 genomes]
rs3014224	1.00[EUR][1000 genomes]
rs3014226	1.00[EUR][1000 genomes]
rs35067820	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35103566	1.00[EUR][1000 genomes]
rs35808563	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36053912	1.00[EUR][1000 genomes]
rs486346	1.00[AMR][1000 genomes]
rs505175	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs506094	1.00[AMR][1000 genomes]
rs525706	1.00[AMR][1000 genomes]
rs57910611	1.00[EUR][1000 genomes]
rs59050426	1.00[EUR][1000 genomes]
rs60347972	1.00[EUR][1000 genomes]
rs60660559	1.00[EUR][1000 genomes]
rs622296	1.00[AMR][1000 genomes]
rs635446	1.00[AMR][1000 genomes]
rs665014	1.00[AMR][1000 genomes]
rs6664588	1.00[EUR][1000 genomes]
rs6671347	1.00[EUR][1000 genomes]
rs6677135	1.00[EUR][1000 genomes]
rs668289	1.00[AMR][1000 genomes]
rs669417	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs6699702	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs680267	1.00[AMR][1000 genomes]
rs72896187	1.00[EUR][1000 genomes]
rs72898313	1.00[EUR][1000 genomes]
rs72898315	1.00[EUR][1000 genomes]
rs72898320	1.00[EUR][1000 genomes]
rs72898323	1.00[EUR][1000 genomes]
rs72900311	1.00[EUR][1000 genomes]
rs7412911	1.00[EUR][1000 genomes]
rs7536559	1.00[EUR][1000 genomes]
rs7550744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9429080	1.00[EUR][1000 genomes]
rs9429083	1.00[EUR][1000 genomes]
rs9429164	1.00[EUR][1000 genomes]
rs9429165	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	chr1:45966600-45984600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:45966800-45980200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:45966800-45984800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:45971600-45985000	Strong transcription	Fetal Stomach	stomach
5	chr1:45971800-45980400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:45971800-45982000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:45972800-45980400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:45972800-45982200	Strong transcription	K562	blood
9	chr1:45972800-45982400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:45972800-45984400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:45972800-45984400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:45972800-45984400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:45972800-45984600	Strong transcription	Fetal Thymus	thymus
14	chr1:45973000-45981800	Strong transcription	Dnd41	blood
15	chr1:45973000-45983000	Strong transcription	Fetal Brain Female	brain
16	chr1:45973000-45983200	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr1:45973000-45983200	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:45973000-45983400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr1:45973000-45983800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:45973000-45983800	Strong transcription	Spleen	Spleen
21	chr1:45973000-45984000	Strong transcription	Primary T cells from cord blood	blood
22	chr1:45973000-45984000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:45973000-45984000	Strong transcription	Fetal Muscle Leg	muscle
24	chr1:45973000-45984400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:45973000-45984400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:45973000-45984600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr1:45973200-45982000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr1:45973200-45982200	Strong transcription	NHEK	skin
29	chr1:45973200-45982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:45973200-45983200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:45973200-45983600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:45973200-45983800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:45973200-45984200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:45973200-45984600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:45973200-45984600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr1:45973200-45984600	Strong transcription	Adipose Nuclei	Adipose
37	chr1:45973400-45979800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:45973400-45980200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr1:45973400-45982200	Strong transcription	GM12878-XiMat	blood
40	chr1:45973400-45982800	Strong transcription	Right Ventricle	heart
41	chr1:45973400-45983000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:45973400-45983200	Strong transcription	Primary B cells from cord blood	blood
43	chr1:45973400-45983200	Strong transcription	HMEC	breast
44	chr1:45973400-45983800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:45973400-45984200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:45973400-45984400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:45973400-45984600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:45973600-45980400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:45973600-45982800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr1:45973600-45984200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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