Variant report

Variant	rs2267121
Chromosome Location	chr22:28258700-28258701
allele	G/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: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs138631	0.82[ASN][1000 genomes]
rs138638	0.82[CHB][hapmap];0.82[CHD][hapmap];0.87[TSI][hapmap]
rs138650	0.87[TSI][hapmap]
rs1548235	0.84[JPT][hapmap]
rs2038158	0.82[ASN][1000 genomes]
rs2267124	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3747141	0.80[TSI][hapmap]
rs4140571	0.86[TSI][hapmap]
rs470100	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs5752667	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs5762393	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5762416	0.86[ASN][1000 genomes]
rs5762418	0.87[ASN][1000 genomes]
rs5997319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6005671	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.89[ASN][1000 genomes]
rs720621	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73425788	0.84[ASN][1000 genomes]
rs738451	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs738453	0.88[CEU][hapmap]
rs957601	0.84[ASN][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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