Variant report

Variant	rs72744269
Chromosome Location	chr9:108267458-108267459
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	chr9:108260955..108262644-chr9:108265886..108267753,2	K562	blood:
2	chr9:108261144..108264135-chr9:108265517..108268849,4	K562	blood:

Variant related genes	Relation type
ENSG00000106701	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1018848	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1018849	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10820805	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10820806	1.00[ASN][1000 genomes]
rs10820807	0.82[ASN][1000 genomes]
rs10820808	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10820816	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10991661	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10991662	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10991664	0.98[ASN][1000 genomes]
rs10991666	0.98[ASN][1000 genomes]
rs10991669	0.82[ASN][1000 genomes]
rs10991675	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10991680	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10991686	0.84[ASN][1000 genomes]
rs10991688	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11535511	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12235779	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12555267	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1327351	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1329021	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1329022	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1576285	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924672	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16924676	0.99[ASN][1000 genomes]
rs1858744	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1928293	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1928294	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068266	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518110	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518111	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2518113	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518117	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2518118	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2518119	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2518122	0.96[ASN][1000 genomes]
rs2518127	0.85[ASN][1000 genomes]
rs2768278	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2768284	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2768285	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2768286	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2768287	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2768288	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2768293	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2768296	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2904847	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4302902	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56134629	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744254	0.87[ASN][1000 genomes]
rs72744266	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs885955	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053973	chr9:108199177-108300186	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv615115	chr9:108205262-108298183	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv893692	chr9:108218852-108320988	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
4	nsv1050141	chr9:108219667-108317424	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108214600-108309800	Weak transcription	HUVEC	blood vessel
2	chr9:108221000-108277200	Weak transcription	Left Ventricle	heart
3	chr9:108222200-108277000	Weak transcription	Ovary	ovary
4	chr9:108222600-108311400	Weak transcription	Fetal Heart	heart
5	chr9:108227400-108271600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:108227600-108278400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr9:108231800-108296800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:108232600-108268800	Weak transcription	Fetal Brain Female	brain
9	chr9:108233600-108269200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:108233600-108272000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:108233600-108272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:108233600-108277000	Weak transcription	Adipose Nuclei	Adipose
13	chr9:108242600-108300000	Weak transcription	Brain Anterior Caudate	brain
14	chr9:108247800-108271600	Weak transcription	NH-A	brain
15	chr9:108248000-108276000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:108250600-108268800	Weak transcription	HSMM	muscle
17	chr9:108250800-108268800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:108251200-108268600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:108251600-108272000	Weak transcription	HMEC	breast
20	chr9:108251800-108268800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:108257400-108269000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr9:108257600-108269000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr9:108258200-108277200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:108258200-108282000	Weak transcription	Psoas Muscle	Psoas
25	chr9:108258400-108276800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:108258400-108276800	Weak transcription	Brain Germinal Matrix	brain
27	chr9:108258800-108268800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:108259000-108277000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:108259600-108272200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:108259600-108282000	Weak transcription	HSMMtube	muscle
31	chr9:108259800-108268800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:108260400-108268400	Weak transcription	HepG2	liver
33	chr9:108262000-108268000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:108262800-108277000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:108262800-108277600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr9:108263000-108277400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr9:108263800-108269400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr9:108264000-108275000	Weak transcription	Primary B cells from cord blood	blood
39	chr9:108264200-108269200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr9:108264800-108269000	Weak transcription	Osteobl	bone
41	chr9:108264800-108277000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr9:108265200-108270800	Weak transcription	Small Intestine	intestine
43	chr9:108265400-108277000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr9:108265600-108276800	Weak transcription	Dnd41	blood
45	chr9:108266000-108268200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:108266200-108277400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr9:108266400-108268000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:108266400-108271600	Weak transcription	NHLF	lung
49	chr9:108266400-108275600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr9:108266400-108277800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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