Variant report

Variant	rs6501957
Chromosome Location	chr17:67045903-67045904
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	IRF1	chr17:67045871-67046098	K562	blood:	n/a	n/a

Variant related genes	Relation type
ABCA9	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1055448	1.00[CEU][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10852783	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11077910	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11650025	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1860447	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1860448	1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2041320	0.91[EUR][1000 genomes]
rs2364312	0.87[EUR][1000 genomes]
rs2364314	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4968831	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4968989	0.91[EUR][1000 genomes]
rs4968990	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4968994	1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs7212490	1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs732010	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9284343	1.00[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9902504	0.95[EUR][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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67039800-67051800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr17:67040400-67047600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr17:67040800-67055600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr17:67041400-67046200	Enhancers	HUVEC	blood vessel
5	chr17:67041400-67072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr17:67042400-67046200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr17:67042400-67046200	Enhancers	Fetal Intestine Large	intestine
8	chr17:67043000-67046000	Enhancers	Stomach Mucosa	stomach
9	chr17:67043400-67046200	Enhancers	Primary T cells from cord blood	blood
10	chr17:67044000-67047000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:67044000-67050200	Enhancers	HepG2	liver
12	chr17:67044200-67047000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:67044200-67047000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr17:67044200-67047200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:67044200-67047600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr17:67044200-67047600	Weak transcription	Colon Smooth Muscle	Colon
17	chr17:67044200-67047600	Weak transcription	NHLF	lung
18	chr17:67044200-67053400	Weak transcription	Left Ventricle	heart
19	chr17:67044400-67046400	Weak transcription	Ovary	ovary
20	chr17:67044400-67047600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:67044400-67051000	Weak transcription	Liver	Liver
22	chr17:67044400-67057200	Weak transcription	Fetal Lung	lung
23	chr17:67044600-67046000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:67044600-67046000	ZNF genes & repeats	K562	blood
25	chr17:67044600-67047200	Weak transcription	Adipose Nuclei	Adipose
26	chr17:67044600-67049000	Weak transcription	Right Atrium	heart
27	chr17:67044800-67046400	Weak transcription	Osteobl	bone
28	chr17:67044800-67046800	Weak transcription	NHDF-Ad	bronchial
29	chr17:67045000-67047000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr17:67045200-67047200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr17:67045200-67048000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr17:67045400-67046200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:67045600-67046400	Weak transcription	Primary monocytes fromperipheralblood	blood

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