Variant report

Variant	rs1642220
Chromosome Location	chr17:67345358-67345359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67344633..67346534-chr17:67349656..67352569,2	K562	blood:

Variant related genes	Relation type
ENSG00000252352	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1154017	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1222550	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1222599	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1662694	0.93[EUR][1000 genomes]
rs182834	0.93[EUR][1000 genomes]
rs2441360	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2592208	0.82[CHB][hapmap]
rs333911	0.93[EUR][1000 genomes]
rs333912	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs333913	0.91[CEU][hapmap];0.91[CHB][hapmap];0.93[EUR][1000 genomes]
rs333914	0.93[EUR][1000 genomes]
rs333915	0.93[EUR][1000 genomes]
rs333916	0.91[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs333917	0.91[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[TSI][hapmap];0.93[EUR][1000 genomes]
rs333918	0.93[EUR][1000 genomes]
rs333919	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs333920	0.82[EUR][1000 genomes]
rs333921	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs489695	0.93[EUR][1000 genomes]
rs491516	0.89[EUR][1000 genomes]
rs506726	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs517988	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs518132	0.82[EUR][1000 genomes]
rs569063	0.93[EUR][1000 genomes]
rs575988	0.92[EUR][1000 genomes]
rs6501323	0.82[CHB][hapmap]
rs817129	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs817130	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv3517126	chr17:67343157-67349955	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	esv3517131	chr17:67343607-67349805	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv2546518	chr17:67343775-67349517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv2049701	chr17:67344218-67349010	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	esv3314890	chr17:67344232-67348932	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv3517127	chr17:67344263-67348904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3314885	chr17:67344288-67348898	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv3517128	chr17:67344291-67349044	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	esv3314887	chr17:67344292-67348864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	esv3517130	chr17:67344312-67348873	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv3314889	chr17:67344322-67348893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv3314888	chr17:67344350-67348829	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	esv3314891	chr17:67344364-67348828	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	esv3517132	chr17:67344364-67348828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	esv16992	chr17:67344391-67348779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	esv2431356	chr17:67344410-67347260	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
18	nsv522420	chr17:67345358-67357573	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67339400-67355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr17:67343400-67346200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr17:67344000-67345400	Enhancers	Fetal Intestine Large	intestine
4	chr17:67345000-67345400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:67345200-67346200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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