Variant report

Variant	rs9427233
Chromosome Location	chr1:153793192-153793193
allele	A/C
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	chr1:153791675..153794891-chr1:153798277..153801719,3	MCF-7	breast:
2	chr1:153791460..153793712-chr1:153918744..153921264,2	MCF-7	breast:
3	chr1:153791929..153794477-chr1:153963416..153966079,2	K562	blood:
4	chr1:153793084..153795411-chr1:153931353..153934057,2	MCF-7	breast:
5	chr1:153792767..153796451-chr1:153937297..153941676,4	MCF-7	breast:
6	chr1:153788125..153790584-chr1:153792328..153794011,2	MCF-7	breast:
7	chr1:153792897..153795866-chr1:153896474..153898654,2	MCF-7	breast:
8	chr1:153792542..153795422-chr1:153948399..153951141,2	MCF-7	breast:
9	chr1:153792390..153794903-chr1:153963069..153964884,3	MCF-7	breast:
10	chr1:153791791..153793988-chr1:153929348..153931015,2	MCF-7	breast:
11	chr1:153792838..153795369-chr1:153845133..153846957,2	K562	blood:
12	chr1:153791929..153793836-chr1:153962034..153964916,2	K562	blood:
13	chr1:153791701..153795974-chr1:153918288..153922037,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273026	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000198837	Chromatin interaction
ENSG00000143543	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000272654	Chromatin interaction
ENSG00000160741	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10908525	0.85[AFR][1000 genomes]
rs1127091	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1139620	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800001	0.86[ASN][1000 genomes]
rs12120118	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124424	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129468	0.93[ASN][1000 genomes]
rs12130611	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133492	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133923	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12142639	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12142733	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12738361	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252508	0.83[AFR][1000 genomes]
rs35711150	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4276953	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4341393	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4370789	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4451582	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4540690	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4581307	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4596938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61803655	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427300	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427306	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668066	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677794	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6690619	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6700115	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72694233	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7414227	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7415004	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7522030	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7532974	0.85[AFR][1000 genomes]
rs7554469	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9426935	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9426938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9427232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011897	chr1:153613597-153836703	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
4	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv464039	chr1:153708906-153801098	Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv547941	chr1:153708906-153801098	Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv817392	chr1:153724807-153870005	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
9	esv1830663	chr1:153779296-153807816	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	esv1825546	chr1:153779296-153821716	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	esv1825076	chr1:153779296-153843413	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153774000-153801800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:153775000-153798800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:153777400-153801000	Strong transcription	Fetal Intestine Small	intestine
4	chr1:153777800-153793200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:153777800-153793800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:153778400-153820400	Weak transcription	Stomach Mucosa	stomach
7	chr1:153779200-153793400	Strong transcription	Fetal Thymus	thymus
8	chr1:153779200-153794200	Strong transcription	Dnd41	blood
9	chr1:153779400-153793800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:153779600-153793200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:153779600-153793600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:153779600-153793600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:153779800-153793400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:153780400-153793200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:153781600-153826800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:153786400-153811000	Weak transcription	Psoas Muscle	Psoas
17	chr1:153788200-153801600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:153789000-153798800	Weak transcription	Right Atrium	heart
19	chr1:153789400-153803200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:153790200-153814400	Weak transcription	Small Intestine	intestine
21	chr1:153790400-153795800	Weak transcription	A549	lung
22	chr1:153790600-153797200	Weak transcription	Esophagus	oesophagus
23	chr1:153790600-153799400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:153790600-153802000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:153790800-153795600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:153790800-153799000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:153790800-153799000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:153790800-153799000	Weak transcription	Fetal Kidney	kidney
29	chr1:153791000-153799600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:153791400-153796600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:153791400-153797200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:153791400-153798800	Weak transcription	Brain Germinal Matrix	brain
33	chr1:153791400-153798800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:153791400-153798800	Weak transcription	Gastric	stomach
35	chr1:153791400-153798800	Weak transcription	Pancreas	Pancrea
36	chr1:153791400-153798800	Weak transcription	Right Ventricle	heart
37	chr1:153791400-153799000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:153791600-153793800	Weak transcription	Brain Angular Gyrus	brain
39	chr1:153791600-153795000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:153791600-153795600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:153791600-153795800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:153791600-153795800	Weak transcription	K562	blood
43	chr1:153791600-153796000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:153791600-153796400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:153791600-153796800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:153791600-153796800	Weak transcription	Lung	lung
47	chr1:153791600-153797200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:153791600-153797400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr1:153791600-153797600	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:153791600-153797600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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