Variant report

Variant	rs72683454
Chromosome Location	chr1:113507252-113507253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113500281..113502196-chr1:113505336..113508052,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11102560	0.91[EUR][1000 genomes]
rs12064292	0.96[EUR][1000 genomes]
rs12126192	0.91[EUR][1000 genomes]
rs17440299	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17493313	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17494145	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17494180	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1936311	0.92[EUR][1000 genomes]
rs2149036	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28556822	0.96[EUR][1000 genomes]
rs3849174	0.96[EUR][1000 genomes]
rs4838971	0.96[EUR][1000 genomes]
rs4839270	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4839272	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839276	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55768060	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55982206	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55992320	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56007797	0.96[EUR][1000 genomes]
rs56019044	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56220197	0.92[EUR][1000 genomes]
rs6669006	0.80[EUR][1000 genomes]
rs6676446	0.87[EUR][1000 genomes]
rs6676864	0.90[EUR][1000 genomes]
rs66899043	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683432	0.95[EUR][1000 genomes]
rs72683434	0.96[EUR][1000 genomes]
rs72683442	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72683453	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683459	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683463	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683468	0.80[EUR][1000 genomes]
rs7518984	0.96[EUR][1000 genomes]
rs7524567	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536532	0.96[EUR][1000 genomes]
rs7540321	0.88[EUR][1000 genomes]
rs7542229	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7545602	0.96[EUR][1000 genomes]
rs7548109	0.88[EUR][1000 genomes]
rs7550843	0.93[EUR][1000 genomes]
rs7552903	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429505	0.96[EUR][1000 genomes]
rs9429709	0.95[EUR][1000 genomes]
rs9429710	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113499600-113525600	Weak transcription	Spleen	Spleen
2	chr1:113499800-113514800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:113500200-113509800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:113500200-113524600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:113500200-113528600	Weak transcription	Lung	lung
6	chr1:113500200-113529000	Weak transcription	Esophagus	oesophagus
7	chr1:113500400-113520200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:113500600-113510000	Weak transcription	Fetal Intestine Large	intestine
9	chr1:113500600-113510200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:113500600-113515000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:113500600-113535400	Weak transcription	Aorta	Aorta
12	chr1:113500800-113507400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:113500800-113509600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:113500800-113509800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:113500800-113510200	Weak transcription	HSMMtube	muscle
16	chr1:113500800-113510400	Weak transcription	Brain Substantia Nigra	brain
17	chr1:113500800-113510400	Weak transcription	NH-A	brain
18	chr1:113500800-113515400	Weak transcription	Fetal Kidney	kidney
19	chr1:113500800-113515800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:113501000-113508600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:113501000-113508600	Weak transcription	Fetal Thymus	thymus
22	chr1:113501000-113508800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:113501000-113510000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:113501000-113510000	Weak transcription	Placenta	Placenta
25	chr1:113501000-113510200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:113501000-113510800	Weak transcription	Stomach Mucosa	stomach
27	chr1:113501000-113525600	Weak transcription	Brain Angular Gyrus	brain
28	chr1:113501200-113508400	Weak transcription	Left Ventricle	heart
29	chr1:113501600-113508600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:113501600-113510200	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:113501600-113510200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:113501600-113512800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:113501600-113512800	Weak transcription	Colonic Mucosa	Colon
34	chr1:113501600-113515600	Weak transcription	Thymus	Thymus
35	chr1:113501800-113508600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:113501800-113508800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:113501800-113510000	Weak transcription	NHLF	lung
38	chr1:113501800-113510200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr1:113501800-113510200	Weak transcription	Right Ventricle	heart
40	chr1:113501800-113511800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:113502000-113520600	Weak transcription	Fetal Brain Male	brain
42	chr1:113502400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:113502400-113513600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:113502600-113511200	Strong transcription	Osteobl	bone
45	chr1:113502800-113511200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:113503000-113511200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:113503000-113511200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:113503000-113511200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:113503000-113511200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:113503000-113511800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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