Variant report

Variant	rs17569049
Chromosome Location	chr1:225826845-225826846
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225819725..225821814-chr1:225824728..225826905,2	MCF-7	breast:
2	chr1:225823441..225825112-chr1:225825281..225827409,2	K562	blood:
3	chr1:225825909..225828696-chr1:225839618..225842314,3	MCF-7	breast:
4	chr1:225825309..225827392-chr1:225840807..225843805,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10429871	0.93[EUR][1000 genomes]
rs11801322	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12027872	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12038893	1.00[CEU][hapmap]
rs12039453	1.00[CEU][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs1340868	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1537877	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1537878	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845078	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17500089	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17500562	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500604	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500639	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500679	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500814	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17500944	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17501138	1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17501208	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17501249	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17501775	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17501845	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17501956	1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502068	1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502075	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502297	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502774	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502823	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17502858	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17502961	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17503792	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17558869	1.00[CHD][hapmap]
rs17559267	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17559587	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17560021	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17560215	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17560579	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561095	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561221	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561228	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561368	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561451	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561781	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17562010	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17562052	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17568665	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17569145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17569194	1.00[ASN][1000 genomes]
rs1832229	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876085	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876086	1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28617210	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3947140	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687755	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73125707	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs954615	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225809800-225837800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:225813600-225837600	Weak transcription	HUVEC	blood vessel
3	chr1:225813800-225838600	Weak transcription	HMEC	breast
4	chr1:225814600-225835800	Weak transcription	HSMMtube	muscle
5	chr1:225815600-225830000	Weak transcription	Pancreas	Pancrea
6	chr1:225815800-225839000	Weak transcription	Fetal Intestine Large	intestine
7	chr1:225816000-225830000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:225816000-225832400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:225816000-225834200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:225816000-225838400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:225816000-225838600	Weak transcription	Fetal Kidney	kidney
12	chr1:225816200-225835400	Weak transcription	Fetal Heart	heart
13	chr1:225816200-225836000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:225816200-225836600	Weak transcription	Adipose Nuclei	Adipose
15	chr1:225816800-225832000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:225817200-225834000	Weak transcription	Psoas Muscle	Psoas
17	chr1:225819000-225831000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:225819000-225832200	Weak transcription	NHDF-Ad	bronchial
19	chr1:225819200-225829600	Weak transcription	Left Ventricle	heart
20	chr1:225819200-225830000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:225819200-225830000	Weak transcription	Gastric	stomach
22	chr1:225819600-225836400	Weak transcription	Brain Angular Gyrus	brain
23	chr1:225820000-225835800	Weak transcription	Brain Anterior Caudate	brain
24	chr1:225820800-225829800	Weak transcription	HSMM	muscle
25	chr1:225820800-225837200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:225822800-225828200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:225823400-225830800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:225823600-225830000	Weak transcription	Right Ventricle	heart
29	chr1:225823600-225834200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:225823800-225828600	Weak transcription	Aorta	Aorta
31	chr1:225823800-225830000	Strong transcription	NH-A	brain
32	chr1:225823800-225835400	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:225823800-225836600	Weak transcription	NHLF	lung
34	chr1:225824000-225829800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:225824000-225830000	Weak transcription	Stomach Mucosa	stomach
36	chr1:225824000-225832200	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:225824200-225834400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:225824400-225830000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:225825000-225827000	Weak transcription	Lung	lung
40	chr1:225825000-225828000	Strong transcription	Osteobl	bone
41	chr1:225825000-225837400	Weak transcription	Hela-S3	cervix
42	chr1:225825200-225827000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:225825200-225828800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:225825400-225827600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
45	chr1:225825400-225827800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:225825400-225828200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:225825400-225828400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:225825400-225828400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:225825600-225828800	Weak transcription	Fetal Stomach	stomach
50	chr1:225825600-225829600	Weak transcription	Fetal Muscle Trunk	muscle

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