Variant report

Variant	rs4099186
Chromosome Location	chr5:107146272-107146273
allele	A/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	GATA2	chr5:107146226-107146651	SH-SY5Y	brain:	n/a	chr5:107146249-107146256 chr5:107146249-107146256 chr5:107146242-107146263 chr5:107146244-107146260 chr5:107146247-107146256 chr5:107146249-107146256 chr5:107146247-107146257

Variant related genes	Relation type
RN7SKP122	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10066422	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11742684	0.88[ASN][1000 genomes]
rs11747409	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11748620	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033479	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2410957	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2410958	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2410959	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2898606	0.85[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34695771	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3843493	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3846692	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3846693	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3909359	0.95[ASN][1000 genomes]
rs3909360	0.95[ASN][1000 genomes]
rs3909362	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3931059	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3931060	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3931725	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4099187	1.00[CEU][hapmap];0.93[CHB][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4099188	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4099189	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4100173	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4957541	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4957721	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4957722	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55976515	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6596749	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6596750	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6596751	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6596754	0.84[ASN][1000 genomes]
rs6596755	0.90[ASN][1000 genomes]
rs6860214	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6860370	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6860400	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6860649	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6861427	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6866321	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6867170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6867698	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6868088	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870561	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6871212	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6871231	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6875432	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6876427	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6879536	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6879852	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6880537	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6882183	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6885982	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6888461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6889417	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6892119	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6892137	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6893393	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6895001	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7702274	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7704143	0.92[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	nsv830440	chr5:107074116-107278905	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1022155	chr5:107138981-107149604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107140400-107148800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:107140800-107146600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:107141400-107146600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:107143000-107148000	Weak transcription	HSMM	muscle
5	chr5:107143600-107148000	Weak transcription	HSMMtube	muscle
6	chr5:107144000-107146600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr5:107144400-107167600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:107144800-107147600	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:107144800-107148400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:107144800-107150200	Weak transcription	Right Atrium	heart
11	chr5:107145000-107148000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:107145200-107146600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:107145200-107148000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:107145400-107146600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:107145400-107146600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:107145400-107146800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:107145600-107146800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:107145600-107147600	Weak transcription	Fetal Stomach	stomach
19	chr5:107145600-107148000	Weak transcription	NHLF	lung
20	chr5:107145800-107146800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:107145800-107147000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:107145800-107147000	Enhancers	Fetal Heart	heart
23	chr5:107145800-107148000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:107145800-107148000	Weak transcription	NH-A	brain
25	chr5:107145800-107148200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:107145800-107148200	Weak transcription	NHDF-Ad	bronchial
27	chr5:107146000-107146400	Enhancers	Aorta	Aorta
28	chr5:107146000-107146600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
29	chr5:107146000-107146600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:107146000-107146600	Enhancers	Left Ventricle	heart
31	chr5:107146000-107147000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:107146200-107148000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:107146200-107148000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:107146200-107148600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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