Variant report

Variant	rs16833604
Chromosome Location	chr1:151830773-151830774
allele	A/G
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	SPI1	chr1:151830519-151830804	GM12891	blood:	n/a	chr1:151830635-151830648 chr1:151830639-151830646 chr1:151830638-151830647
2	MYC	chr1:151830604-151831054	MCF10A-Er-Src	breast:	n/a	n/a
3	SPI1	chr1:151830525-151830824	GM12878	blood:	n/a	chr1:151830635-151830648 chr1:151830639-151830646 chr1:151830638-151830647
4	SPI1	chr1:151830408-151830896	HL-60	blood:	n/a	chr1:151830635-151830648 chr1:151830639-151830646 chr1:151830638-151830647
5	FOS	chr1:151830681-151830880	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr1:151830674-151830822	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr1:151830643-151830917	MCF10A-Er-Src	breast:	n/a	n/a
8	SPI1	chr1:151830492-151830859	HL-60	blood:	n/a	chr1:151830635-151830648 chr1:151830639-151830646 chr1:151830638-151830647

No.	Distal block	Cell Line	Cell type
1	chr1:151828500..151832022-chr1:151833324..151837098,3	K562	blood:
2	chr1:151637265..151639780-chr1:151828927..151831330,2	MCF-7	breast:
3	chr1:151823384..151829926-chr1:151830365..151837191,11	MCF-7	breast:
4	chr1:151822836..151827671-chr1:151828332..151832187,5	K562	blood:
5	chr1:151817401..151820382-chr1:151830495..151832320,2	MCF-7	breast:
6	chr1:151825580..151827671-chr1:151828953..151832187,3	K562	blood:
7	chr1:151818078..151821727-chr1:151829199..151833455,4	MCF-7	breast:
8	chr1:151821929..151826041-chr1:151829913..151833427,5	MCF-7	breast:

Variant related genes	Relation type
THEM5	TF binding region
ENSG00000196407	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1056037	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs1129117	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567049	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727170	0.81[ASN][1000 genomes]
rs16833584	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16833599	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279503	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs2879130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845624	0.86[CHB][hapmap]
rs60166269	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61815147	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6587622	0.80[CHB][hapmap]
rs6587625	0.94[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7524706	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7556386	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs923547	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs998500	0.82[ASN][1000 genomes]
rs998501	1.00[CEU][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151819200-151847600	Weak transcription	Thymus	Thymus
2	chr1:151821400-151832400	Weak transcription	Spleen	Spleen
3	chr1:151821600-151845600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:151826400-151846200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:151827600-151839800	Weak transcription	Hela-S3	cervix
6	chr1:151828200-151835400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:151828600-151830800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:151828800-151830800	Weak transcription	Osteobl	bone
9	chr1:151828800-151837000	Weak transcription	Right Ventricle	heart
10	chr1:151829000-151845200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:151829200-151832000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:151829400-151834200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:151829800-151832800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:151829800-151832800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:151830000-151831000	Enhancers	Ovary	ovary
16	chr1:151830000-151833400	Enhancers	HMEC	breast
17	chr1:151830000-151833600	Enhancers	NHEK	skin
18	chr1:151830000-151833800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:151830200-151831000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:151830200-151831000	Enhancers	Adipose Nuclei	Adipose
21	chr1:151830400-151831000	Enhancers	GM12878-XiMat	blood
22	chr1:151830400-151831600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:151830600-151830800	Enhancers	Placenta	Placenta
24	chr1:151830600-151831000	Weak transcription	Esophagus	oesophagus
25	chr1:151830600-151831000	Enhancers	Right Atrium	heart
26	chr1:151830600-151831600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:151830600-151831800	Enhancers	HUVEC	blood vessel
28	chr1:151830600-151831800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr1:151830600-151832000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:151830600-151832200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:151830600-151832200	Weak transcription	Fetal Thymus	thymus
32	chr1:151830600-151834400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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