Variant report

Variant	rs17110695
Chromosome Location	chr1:84985993-84985994
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	GATA3	chr1:84985665-84986279	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr1:84985909-84986122	T-47D	breast:	n/a	n/a
3	GATA1	chr1:84985734-84986202	PBDE	blood:	n/a	n/a
4	GATA3	chr1:84985711-84986342	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84969735..84979623-chr1:84983174..84994888,16	K562	blood:

Variant related genes	Relation type
SPATA1	TF binding region
ENSG00000174021	Chromatin interaction
ENSG00000122432	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1043493	0.89[EUR][1000 genomes]
rs10493753	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164003	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1156435	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11801891	0.89[EUR][1000 genomes]
rs11802781	0.89[EUR][1000 genomes]
rs11804372	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17099163	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17110157	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17110700	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17110865	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17111233	1.00[CEU][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17111283	1.00[CEU][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17111299	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17111308	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17111314	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17111351	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17111464	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17111498	1.00[CEU][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17131722	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131723	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56935748	0.89[EUR][1000 genomes]
rs58273089	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58339631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59441149	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59898877	0.89[EUR][1000 genomes]
rs61699375	0.89[EUR][1000 genomes]
rs6683385	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6688208	1.00[CEU][hapmap]
rs72950323	0.89[EUR][1000 genomes]
rs72950341	0.89[EUR][1000 genomes]
rs7524406	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7528067	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7530632	0.89[EUR][1000 genomes]
rs7547026	1.00[CEU][hapmap]
rs9782922	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84973000-85003200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:84973200-85003200	Weak transcription	Adipose Nuclei	Adipose
3	chr1:84973400-84991600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:84973400-84993800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:84973400-84994400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:84973400-84995200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:84973400-85002000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:84974200-84991400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:84975200-85019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:84975800-85030200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:84977600-84991600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:84979600-84994400	Weak transcription	Primary B cells from cord blood	blood
13	chr1:84981600-85012200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:84982400-85026800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:84985000-84994800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:84985600-84986000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:84985600-84986000	Enhancers	NHEK	skin

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