Variant report

Variant	rs9620744
Chromosome Location	chr22:28258708-28258709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr22:28258697-28259111	HepG2	liver:	n/a	chr22:28259025-28259037

Variant related genes	Relation type
PITPNB	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10483138	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11090518	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12166069	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12168796	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170294	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12330032	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985691	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985697	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985700	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985704	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985705	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985706	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985707	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985718	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58520548	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59807513	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8140760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142920	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926468	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9306449	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9306450	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620742	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620747	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625345	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625346	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625347	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625348	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625349	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625351	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625352	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625357	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28239200-28259400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr22:28241400-28261600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:28242000-28259400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr22:28242200-28259000	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr22:28242200-28259400	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr22:28242400-28263200	Strong transcription	GM12878-XiMat	blood
7	chr22:28242600-28259200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr22:28242600-28259400	Strong transcription	NHEK	skin
9	chr22:28242800-28259400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr22:28243800-28259600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr22:28243800-28274000	Strong transcription	Dnd41	blood
12	chr22:28244000-28261800	Strong transcription	HMEC	breast
13	chr22:28244000-28263600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr22:28244200-28264200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr22:28246400-28259400	Strong transcription	Placenta	Placenta
16	chr22:28246800-28259000	Strong transcription	Fetal Muscle Leg	muscle
17	chr22:28247000-28258800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr22:28248600-28263000	Weak transcription	Right Atrium	heart
20	chr22:28249800-28259000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:28249800-28261400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr22:28249800-28262200	Weak transcription	Fetal Brain Male	brain
23	chr22:28250000-28259000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:28250000-28259000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:28250200-28259000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:28250800-28259400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr22:28251600-28259000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:28251600-28267400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:28251800-28259400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr22:28252200-28262600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:28252800-28265000	Weak transcription	K562	blood
32	chr22:28252800-28272600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:28253800-28258800	Weak transcription	Brain Hippocampus Middle	brain
34	chr22:28253800-28279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:28254000-28259200	Enhancers	Colon Smooth Muscle	Colon
36	chr22:28254000-28264200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr22:28254000-28264400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr22:28254000-28279800	Weak transcription	Spleen	Spleen
39	chr22:28254200-28258800	Weak transcription	Brain Angular Gyrus	brain
40	chr22:28254200-28258800	Weak transcription	Brain Anterior Caudate	brain
41	chr22:28254200-28258800	Weak transcription	Brain Substantia Nigra	brain
42	chr22:28254200-28259400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr22:28254200-28262000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr22:28254200-28263000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr22:28254200-28263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr22:28254200-28266600	Weak transcription	Fetal Brain Female	brain
47	chr22:28254200-28270200	Weak transcription	Right Ventricle	heart
48	chr22:28254400-28265200	Weak transcription	Brain Germinal Matrix	brain
49	chr22:28254600-28263600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr22:28254600-28267400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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