Variant report

Variant	rs72860229
Chromosome Location	chr2:152283199-152283200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152274239..152276759-chr2:152282847..152284956,2	K562	blood:

Variant related genes	Relation type
ENSG00000080345	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11896481	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16830019	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16830036	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16830047	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16830059	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16830061	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16830067	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16830086	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16830090	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16830096	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16830159	0.81[ASN][1000 genomes]
rs1993206	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3732308	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4468813	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4491723	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4494741	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55654831	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55900984	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55982073	0.89[AMR][1000 genomes]
rs56898485	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62169373	0.87[ASN][1000 genomes]
rs62169374	0.83[ASN][1000 genomes]
rs62169378	0.95[ASN][1000 genomes]
rs62169380	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169382	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62169384	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62169385	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62169386	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6726640	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6733645	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6742953	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72860230	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72860235	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72860236	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7422009	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7593710	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7598855	0.85[ASN][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	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 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	chr2:152267600-152287000	Weak transcription	Colonic Mucosa	Colon
2	chr2:152267600-152379400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:152267800-152340400	Weak transcription	Stomach Mucosa	stomach
4	chr2:152268000-152342800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:152268200-152284200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:152268200-152303000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:152268200-152319400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:152268200-152320800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:152268200-152327800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:152268200-152328400	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr2:152268200-152328600	Strong transcription	Fetal Thymus	thymus
12	chr2:152268400-152283200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr2:152268400-152298200	Strong transcription	Fetal Intestine Large	intestine
14	chr2:152268400-152327800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:152268600-152283600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:152268600-152300200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:152268600-152319200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:152268600-152326800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:152268600-152327800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:152268600-152334400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:152268600-152342600	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:152268800-152283400	Strong transcription	Liver	Liver
23	chr2:152268800-152283800	Strong transcription	K562	blood
24	chr2:152268800-152299800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:152268800-152319600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:152268800-152326800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:152268800-152327800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:152268800-152327800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:152269000-152284000	Strong transcription	Fetal Brain Female	brain
30	chr2:152269000-152284600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:152269400-152327200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:152270600-152283200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr2:152270600-152283800	Strong transcription	HepG2	liver
34	chr2:152272400-152319200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:152272400-152327800	Strong transcription	Dnd41	blood
36	chr2:152272600-152283200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:152274600-152290400	Strong transcription	Fetal Muscle Leg	muscle
38	chr2:152274800-152289000	Strong transcription	Fetal Stomach	stomach
39	chr2:152275800-152310000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:152276000-152283600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:152277000-152294200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr2:152277000-152301400	Weak transcription	Fetal Heart	heart
43	chr2:152278000-152287600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:152278200-152285800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:152278200-152290000	Weak transcription	Esophagus	oesophagus
46	chr2:152278200-152293600	Weak transcription	Brain Angular Gyrus	brain
47	chr2:152278200-152294200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:152278400-152285800	Weak transcription	Psoas Muscle	Psoas
49	chr2:152278400-152293400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:152278600-152286600	Weak transcription	Right Ventricle	heart

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