Variant report

Variant	rs9425758
Chromosome Location	chr1:173827053-173827054
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173686890..173689888-chr1:173826040..173828331,2	MCF-7	breast:
2	chr1:173397788..173400470-chr1:173826012..173828676,2	K562	blood:
3	chr1:173791743..173795924-chr1:173822974..173827118,6	K562	blood:
4	chr1:173826504..173829648-chr1:173870510..173874111,3	K562	blood:
5	chr1:173826578..173827244-chr8:75201062..75201899,2	MCF-7	breast:
6	chr1:173808404..173810597-chr1:173824341..173827364,3	MCF-7	breast:
7	chr1:173826105..173828318-chr1:173891336..173894864,3	K562	blood:
8	chr1:173457080..173459531-chr1:173825329..173828115,2	K562	blood:
9	chr1:173806275..173809871-chr1:173825699..173827456,4	K562	blood:
10	chr1:173398919..173401669-chr1:173825835..173827646,3	MCF-7	breast:
11	chr1:173826383..173830416-chr1:173877536..173882048,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120334	Chromatin interaction
ENSG00000117593	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10081990	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10158663	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10798298	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912677	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912678	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912680	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912682	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912684	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1115487	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11487392	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12067571	0.89[AMR][1000 genomes]
rs12070556	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12080389	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12082206	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12083423	0.88[AMR][1000 genomes]
rs12085748	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12085894	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12094130	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095090	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12096832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12098124	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1322771	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1322772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375555	0.88[AMR][1000 genomes]
rs1474907	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846383	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846420	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2224657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28578576	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56124923	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59845733	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6425257	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6658217	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6663880	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6675762	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6686455	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689764	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6691327	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6691922	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6692452	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6695782	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6698348	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6702485	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7518130	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7522788	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7534521	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536773	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544583	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7550036	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7552840	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9282959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9282960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9286886	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9286887	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9286890	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9286894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425415	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9425418	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425419	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425420	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425421	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425423	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425424	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425425	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425426	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425734	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425736	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425738	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425740	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425741	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425742	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9425746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425747	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425750	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425751	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425752	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425759	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425761	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425774	0.83[AMR][1000 genomes]
rs9442660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9970488	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9970633	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases
3	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 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	chr1:173794400-173832800	Weak transcription	Fetal Heart	heart
2	chr1:173794600-173832000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:173794600-173832000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:173794600-173832600	Weak transcription	Brain Substantia Nigra	brain
5	chr1:173794600-173833800	Weak transcription	Stomach Mucosa	stomach
6	chr1:173794800-173834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:173795000-173834600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:173797200-173828400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:173799600-173828800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:173809800-173831800	Weak transcription	Colonic Mucosa	Colon
11	chr1:173811200-173829200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:173813200-173831800	Weak transcription	Right Ventricle	heart
13	chr1:173813200-173832000	Weak transcription	Small Intestine	intestine
14	chr1:173813400-173831000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:173818200-173831600	Weak transcription	Fetal Brain Male	brain
16	chr1:173818400-173829000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:173818400-173829800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:173818600-173829600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:173818600-173830200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr1:173818600-173834800	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:173818600-173834800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:173818800-173827200	Strong transcription	Primary T cells from cord blood	blood
23	chr1:173818800-173827800	Strong transcription	Dnd41	blood
24	chr1:173819200-173828200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:173819200-173833200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:173819200-173833800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:173819200-173834000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:173819400-173827600	Strong transcription	HMEC	breast
29	chr1:173819400-173829800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:173819400-173832000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:173819400-173834800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:173819600-173830000	Weak transcription	Right Atrium	heart
33	chr1:173819600-173834000	Strong transcription	Fetal Thymus	thymus
34	chr1:173819600-173835600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr1:173819800-173827600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:173820400-173828200	Strong transcription	Adipose Nuclei	Adipose
37	chr1:173820400-173828600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:173820600-173827400	Strong transcription	HSMM	muscle
39	chr1:173820600-173827600	Strong transcription	K562	blood
40	chr1:173820600-173828200	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:173820600-173833800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:173820600-173834000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr1:173821000-173828600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:173821000-173834000	Strong transcription	Liver	Liver
45	chr1:173821000-173834000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr1:173821200-173828000	Strong transcription	Aorta	Aorta
47	chr1:173821800-173829400	Strong transcription	Placenta	Placenta
48	chr1:173822000-173827600	Strong transcription	HSMMtube	muscle
49	chr1:173822000-173834000	Strong transcription	Fetal Intestine Large	intestine
50	chr1:173822200-173828000	Strong transcription	Thymus	Thymus

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