Variant report

Variant	rs72683453
Chromosome Location	chr1:113501696-113501697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113460690..113462402-chr1:113501543..113503150,2	K562	blood:
2	chr1:113476476..113482692-chr1:113494893..113501777,18	K562	blood:
3	chr1:113500281..113502196-chr1:113505336..113508052,2	K562	blood:
4	chr1:113250102..113252042-chr1:113500329..113503036,2	K562	blood:

Variant related genes	Relation type
ENSG00000155380	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11102560	0.89[EUR][1000 genomes]
rs12064292	0.94[EUR][1000 genomes]
rs12126192	0.89[EUR][1000 genomes]
rs17440299	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17493313	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17494145	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17494180	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1936311	0.90[EUR][1000 genomes]
rs2149036	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28556822	0.94[EUR][1000 genomes]
rs3849174	0.94[EUR][1000 genomes]
rs4838971	0.94[EUR][1000 genomes]
rs4839270	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4839272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839276	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55768060	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55982206	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55992320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56007797	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56019044	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56220197	0.90[EUR][1000 genomes]
rs6676446	0.85[EUR][1000 genomes]
rs6676864	0.88[EUR][1000 genomes]
rs66899043	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683432	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72683434	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72683442	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72683454	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683459	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683463	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683468	0.87[AMR][1000 genomes]
rs7518984	0.94[EUR][1000 genomes]
rs7524567	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536532	0.94[EUR][1000 genomes]
rs7540321	0.88[EUR][1000 genomes]
rs7542229	0.94[EUR][1000 genomes]
rs7545602	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7548109	0.88[EUR][1000 genomes]
rs7550843	0.91[EUR][1000 genomes]
rs7552903	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429505	0.94[EUR][1000 genomes]
rs9429709	0.93[EUR][1000 genomes]
rs9429710	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
11	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
12	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
14	esv1827123	chr1:113496841-113531848	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers 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	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113496200-113501800	Active TSS	Right Ventricle	heart
2	chr1:113499600-113525600	Weak transcription	Spleen	Spleen
3	chr1:113499800-113501800	Flanking Active TSS	Dnd41	blood
4	chr1:113499800-113502200	Enhancers	Small Intestine	intestine
5	chr1:113499800-113514800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:113500200-113501800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr1:113500200-113502400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:113500200-113509800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:113500200-113524600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:113500200-113528600	Weak transcription	Lung	lung
11	chr1:113500200-113529000	Weak transcription	Esophagus	oesophagus
12	chr1:113500400-113501800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:113500400-113520200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:113500600-113502000	Enhancers	Fetal Brain Male	brain
15	chr1:113500600-113507000	Weak transcription	Ovary	ovary
16	chr1:113500600-113507200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:113500600-113510000	Weak transcription	Fetal Intestine Large	intestine
18	chr1:113500600-113510200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:113500600-113515000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:113500600-113535400	Weak transcription	Aorta	Aorta
21	chr1:113500800-113501800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:113500800-113501800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr1:113500800-113502000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:113500800-113502000	Enhancers	Fetal Muscle Trunk	muscle
25	chr1:113500800-113502200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:113500800-113502400	Weak transcription	Brain Germinal Matrix	brain
27	chr1:113500800-113502400	Active TSS	NHEK	skin
28	chr1:113500800-113502800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:113500800-113503000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:113500800-113503400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:113500800-113503400	Weak transcription	Fetal Lung	lung
32	chr1:113500800-113505600	Weak transcription	Liver	Liver
33	chr1:113500800-113506200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:113500800-113507000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:113500800-113507200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:113500800-113507400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:113500800-113509600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:113500800-113509800	Weak transcription	Fetal Intestine Small	intestine
39	chr1:113500800-113510200	Weak transcription	HSMMtube	muscle
40	chr1:113500800-113510400	Weak transcription	Brain Substantia Nigra	brain
41	chr1:113500800-113510400	Weak transcription	NH-A	brain
42	chr1:113500800-113515400	Weak transcription	Fetal Kidney	kidney
43	chr1:113500800-113515800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:113501000-113501800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:113501000-113501800	Enhancers	HUVEC	blood vessel
46	chr1:113501000-113501800	Enhancers	NHLF	lung
47	chr1:113501000-113502000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:113501000-113502400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:113501000-113502800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:113501000-113503000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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