Variant report

Variant	rs10105502
Chromosome Location	chr8:102989224-102989225
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	SPI1	chr8:102989054-102989258	GM12878	blood:	n/a	n/a
2	SPI1	chr8:102988908-102989358	GM12878	blood:	n/a	n/a
3	SPI1	chr8:102989052-102989279	K562	blood:	n/a	n/a
4	SPI1	chr8:102988962-102989276	GM12878	blood:	n/a	n/a
5	ZNF384	chr8:102989203-102989772	GM12878	blood:	n/a	n/a
6	STAT3	chr8:102989095-102989238	MCF10A-Er-Src	breast:	n/a	n/a
7	SPI1	chr8:102989029-102989288	K562	blood:	n/a	n/a
8	SPI1	chr8:102988930-102989397	HL-60	blood:	n/a	n/a
9	SPI1	chr8:102988933-102989283	GM12891	blood:	n/a	n/a
10	SPI1	chr8:102988940-102989278	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102989164..102991049-chr8:102992314..102994744,2	K562	blood:

Variant related genes	Relation type
NCALD	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10089091	0.92[CEU][hapmap]
rs10090732	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10091084	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102923	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs10505017	0.91[CEU][hapmap]
rs1119377	0.89[YRI][hapmap]
rs1269711	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs1269712	0.84[EUR][1000 genomes]
rs16868893	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs1992330	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2023268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2387331	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28680363	0.84[EUR][1000 genomes]
rs34417909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734049	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs4734050	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs4734052	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs4734607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734609	0.92[CEU][hapmap]
rs55837041	0.85[EUR][1000 genomes]
rs59321812	0.81[EUR][1000 genomes]
rs60389438	0.84[EUR][1000 genomes]
rs6468805	0.89[YRI][hapmap]
rs6468807	0.89[YRI][hapmap]
rs6468809	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs72679088	0.82[EUR][1000 genomes]
rs7814225	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814951	0.91[CEU][hapmap]
rs7818772	0.84[EUR][1000 genomes]
rs7837198	1.00[CEU][hapmap]
rs9297317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9656850	0.86[EUR][1000 genomes]
rs984928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886578	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102965400-102989800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:102976000-102992000	Weak transcription	Right Ventricle	heart
3	chr8:102981000-102992000	Weak transcription	Esophagus	oesophagus
4	chr8:102981400-102989800	Weak transcription	Aorta	Aorta
5	chr8:102983400-102991400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:102983600-102991200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:102983600-102992000	Weak transcription	Left Ventricle	heart
8	chr8:102985800-102989800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:102986400-102990400	Weak transcription	Fetal Heart	heart
10	chr8:102987200-102991000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:102987400-102990800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:102987800-102989800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:102987800-102992000	Weak transcription	Lung	lung
14	chr8:102988000-102989800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:102988000-102989800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:102988000-102989800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:102988000-102989800	Weak transcription	NHEK	skin
18	chr8:102988200-102991000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:102988200-102991200	Weak transcription	K562	blood
20	chr8:102988400-102991200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:102988600-102989600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:102988600-102989800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:102988600-102991400	Weak transcription	Spleen	Spleen
24	chr8:102988600-102992600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:102989000-102989400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:102989000-102989400	Enhancers	Ovary	ovary
27	chr8:102989000-102990800	Enhancers	GM12878-XiMat	blood
28	chr8:102989000-102993400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:102989200-102989600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:102989200-102989800	Weak transcription	Psoas Muscle	Psoas

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