Variant report

Variant	rs11211125
Chromosome Location	chr1:45970108-45970109
allele	A/G
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	chr1:45969273-45979784	A549	lung:	n/a	n/a
2	POLR2A	chr1:45969227-45970134	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45963437..45971807-chr1:46047572..46053150,22	K562	blood:
2	chr1:45969759..45971962-chr1:45973196..45977740,5	MCF-7	breast:
3	chr1:45969960..45972308-chr1:45985412..45987180,2	MCF-7	breast:

Variant related genes	Relation type
MMACHC	TF binding region
CCDC163P	TF binding region
ENSG00000132763	Chromatin interaction
ENSG00000132780	Chromatin interaction

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

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

rs_ID	r²[population]
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]
rs16832545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45956800-45974000	Weak transcription	Small Intestine	intestine
2	chr1:45966400-45971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:45966400-45973000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:45966400-45973000	Weak transcription	Lung	lung
5	chr1:45966400-45975600	Weak transcription	HSMMtube	muscle
6	chr1:45966400-45975800	Weak transcription	Aorta	Aorta
7	chr1:45966600-45973000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:45966600-45984600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:45966800-45972800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:45966800-45973200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:45966800-45973200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:45966800-45973600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:45966800-45973600	Weak transcription	NHLF	lung
14	chr1:45966800-45973800	Weak transcription	Brain Germinal Matrix	brain
15	chr1:45966800-45974200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:45966800-45975800	Weak transcription	HSMM	muscle
17	chr1:45966800-45975800	Weak transcription	NHDF-Ad	bronchial
18	chr1:45966800-45976000	Weak transcription	Fetal Brain Male	brain
19	chr1:45966800-45976000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:45966800-45980200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:45966800-45984800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:45967000-45972800	Weak transcription	Right Ventricle	heart
23	chr1:45967000-45973000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:45967000-45973000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:45967000-45973000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:45967000-45973200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:45967000-45973200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:45967000-45973200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:45967000-45973400	Weak transcription	Primary B cells from cord blood	blood
30	chr1:45967000-45973400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:45967000-45973800	Weak transcription	Ovary	ovary
32	chr1:45967000-45974000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:45967000-45974000	Weak transcription	Colonic Mucosa	Colon
34	chr1:45967000-45974000	Weak transcription	HUVEC	blood vessel
35	chr1:45967000-45974400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:45967000-45974400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:45967000-45974400	Weak transcription	Osteobl	bone
38	chr1:45967000-45975400	Weak transcription	NH-A	brain
39	chr1:45967000-45975600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:45967000-45975800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr1:45967000-45977200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr1:45967200-45972800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:45967200-45972800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:45967200-45973000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:45967200-45973000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:45967200-45973000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:45967200-45973000	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:45967200-45973000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:45967200-45973200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:45967200-45973200	Weak transcription	Primary T cells fromperipheralblood	blood

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