Variant report

Variant	rs61817589
Chromosome Location	chr1:114301335-114301336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114300393..114302237-chr1:114446494..114449478,3	K562	blood:
2	chr1:114300040..114303354-chr1:114351974..114356702,9	MCF-7	breast:
3	chr1:114280513..114282133-chr1:114300491..114302186,2	K562	blood:
4	chr1:114299428..114302166-chr1:114446012..114448303,2	K562	blood:
5	chr1:114300920..114303595-chr20:48598216..48600704,4	MCF-7	breast:
6	chr1:114301057..114304105-chr1:114310097..114314111,4	MCF-7	breast:
7	chr1:114298167..114305255-chr1:114351008..114356451,27	MCF-7	breast:
8	chr1:114300422..114303875-chr1:114445198..114448512,7	MCF-7	breast:
9	chr1:114301163..114303418-chr1:114471834..114473459,2	K562	blood:
10	chr1:114299507..114303267-chr1:114354438..114356409,4	K562	blood:
11	chr1:113160444..113162018-chr1:114299842..114302657,2	K562	blood:
12	chr1:114301276..114301895-chr11:120195897..120196744,2	Hela-S3	cervix:
13	chr1:114300956..114303148-chr11:59521456..59522999,2	MCF-7	breast:
14	chr1:114300712..114302958-chr1:114446093..114449659,3	MCF-7	breast:
15	chr1:114300189..114305139-chr20:48598182..48603040,8	MCF-7	breast:
16	chr1:114300069..114302951-chr1:114469985..114474355,4	MCF-7	breast:
17	chr1:114299235..114302663-chr1:114470274..114473459,3	K562	blood:
18	chr1:114300200..114301915-chr1:114470901..114473894,2	MCF-7	breast:
19	chr1:11968995..11970627-chr1:114300900..114302572,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000007341	Chromatin interaction
ENSG00000118655	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000235527	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000116793	Chromatin interaction
ENSG00000124216	Chromatin interaction
ENSG00000166900	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000134262	Chromatin interaction
ENSG00000181264	Chromatin interaction
ENSG00000254477	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10858017	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10858018	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10858019	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10858021	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11102669	0.81[EUR][1000 genomes]
rs1146182	0.82[EUR][1000 genomes]
rs1146187	0.82[EUR][1000 genomes]
rs12041547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12044534	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12061482	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12063216	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217210	0.82[EUR][1000 genomes]
rs1217376	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217377	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217380	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217386	0.85[ASN][1000 genomes]
rs1217388	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217389	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217395	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217396	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1217407	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217410	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1217412	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217413	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217416	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217421	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1230637	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230638	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1230639	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1230640	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1230642	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230645	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1230646	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230647	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1230649	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1230655	0.82[EUR][1000 genomes]
rs1230656	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1230658	0.82[EUR][1000 genomes]
rs1230659	0.82[EUR][1000 genomes]
rs1230661	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1230671	0.82[EUR][1000 genomes]
rs1230678	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1230679	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1230683	0.82[EUR][1000 genomes]
rs1230685	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230687	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1237682	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12566340	0.85[EUR][1000 genomes]
rs1599971	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17031716	0.80[EUR][1000 genomes]
rs1743605	0.82[EUR][1000 genomes]
rs1775754	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1777237	0.82[EUR][1000 genomes]
rs1777238	0.82[EUR][1000 genomes]
rs1777241	0.82[EUR][1000 genomes]
rs1935838	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1936398	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1981319	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2093436	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2243471	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2295853	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2359167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2488457	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2488458	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2636013	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2636014	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2797408	0.89[EUR][1000 genomes]
rs2797409	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2797412	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2798135	0.81[EUR][1000 genomes]
rs2798138	0.81[EUR][1000 genomes]
rs4145859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4423005	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4565712	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4600045	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4838997	0.82[EUR][1000 genomes]
rs4838998	0.80[ASN][1000 genomes]
rs4839335	0.84[EUR][1000 genomes]
rs6537792	0.82[EUR][1000 genomes]
rs6537795	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6663679	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6698586	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7526209	0.89[ASN][1000 genomes]
rs7529353	0.84[EUR][1000 genomes]
rs7553188	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9429730	0.86[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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114280400-114301400	Weak transcription	Spleen	Spleen
2	chr1:114299800-114301400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:114300000-114301400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:114300000-114301600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr1:114300000-114301600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr1:114300000-114302200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:114300000-114302200	Active TSS	Rectal Smooth Muscle	rectum
8	chr1:114300000-114302400	Active TSS	GM12878-XiMat	blood
9	chr1:114300000-114302600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:114300000-114302600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:114300000-114302600	Active TSS	Psoas Muscle	Psoas
12	chr1:114300000-114302800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:114300000-114302800	Active TSS	Right Ventricle	heart
14	chr1:114300000-114303000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr1:114300200-114301400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr1:114300200-114302400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:114300200-114302400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr1:114300200-114302400	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr1:114300200-114302400	Active TSS	Fetal Muscle Leg	muscle
20	chr1:114300200-114302400	Active TSS	NHLF	lung
21	chr1:114300200-114302600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:114300200-114302600	Active TSS	Brain Angular Gyrus	brain
23	chr1:114300200-114302600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr1:114300200-114302600	Active TSS	Stomach Smooth Muscle	stomach
25	chr1:114300200-114302600	Active TSS	A549	lung
26	chr1:114300200-114302800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:114300200-114302800	Active TSS	Right Atrium	heart
28	chr1:114300200-114303000	Active TSS	H1 Cell Line	embryonic stem cell
29	chr1:114300200-114303000	Active TSS	H9 Cell Line	embryonic stem cell
30	chr1:114300400-114301400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr1:114300400-114301400	Flanking Active TSS	Liver	Liver
32	chr1:114300400-114301600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr1:114300400-114301600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr1:114300400-114301600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:114300400-114302200	Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr1:114300400-114302200	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr1:114300400-114302200	Active TSS	Muscle Satellite Cultured Cells	--
38	chr1:114300400-114302200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:114300400-114302200	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr1:114300400-114302200	Active TSS	Hela-S3	cervix
41	chr1:114300400-114302200	Active TSS	HMEC	breast
42	chr1:114300400-114302200	Active TSS	NH-A	brain
43	chr1:114300400-114302400	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr1:114300400-114302400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:114300400-114302400	Active TSS	Brain Germinal Matrix	brain
46	chr1:114300400-114302400	Active TSS	Brain Hippocampus Middle	brain
47	chr1:114300400-114302400	Active TSS	HSMMtube	muscle
48	chr1:114300400-114302400	Active TSS	K562	blood
49	chr1:114300400-114302600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:114300400-114302600	Active TSS	HUES6 Cell Line	embryonic stem cell

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