Variant report

Variant	rs9425723
Chromosome Location	chr1:173448495-173448496
allele	A/G
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	CUX1	chr1:173448477-173448568	K562	blood:	n/a	n/a
2	IRF1	chr1:173448222-173449297	K562	blood:	n/a	chr1:173448270-173448281 chr1:173448945-173448959 chr1:173448943-173448957 chr1:173448462-173448471 chr1:173448947-173448957 chr1:173448946-173448958
3	POLR2A	chr1:173448336-173448522	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:173446081-173449810	K562	blood:	n/a	n/a
5	MAFK	chr1:173448492-173448503	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:173447936..173449773-chr1:173832296..173834859,2	K562	blood:
2	chr1:173446508..173448738-chr1:173682879..173684641,2	K562	blood:
3	chr1:173442552..173449186-chr1:173835087..173838637,8	MCF-7	breast:
4	chr1:173446841..173450176-chr1:173473892..173477707,4	K562	blood:
5	chr1:173447238..173449255-chr1:173683141..173684861,2	K562	blood:
6	chr1:173448175..173449804-chr1:173683297..173685231,2	MCF-7	breast:
7	chr1:173444899..173448691-chr1:173990820..173993753,4	MCF-7	breast:
8	chr1:173446558..173448990-chr1:173454032..173456674,3	MCF-7	breast:
9	chr1:173443316..173450639-chr1:173791413..173797919,15	K562	blood:
10	chr1:173443428..173450639-chr1:173791407..173797248,10	K562	blood:

Variant related genes	Relation type
PRDX6	TF binding region
ENSG00000185278	Chromatin interaction
ENSG00000224977	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000208317	Chromatin interaction
ENSG00000076321	Chromatin interaction
ENSG00000270084	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000117593	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10753081	0.95[ASN][1000 genomes]
rs10798282	0.94[ASN][1000 genomes]
rs10912617	0.86[ASN][1000 genomes]
rs10912618	0.86[ASN][1000 genomes]
rs12140760	0.80[ASN][1000 genomes]
rs4255417	0.89[ASN][1000 genomes]
rs4276950	0.86[ASN][1000 genomes]
rs4325171	0.87[ASN][1000 genomes]
rs4382766	0.95[ASN][1000 genomes]
rs4611	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4916220	0.91[ASN][1000 genomes]
rs4916355	0.84[ASN][1000 genomes]
rs4916358	0.92[ASN][1000 genomes]
rs4916359	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4916361	0.94[ASN][1000 genomes]
rs4916362	0.96[ASN][1000 genomes]
rs4916363	0.96[ASN][1000 genomes]
rs55654074	0.87[ASN][1000 genomes]
rs6425231	0.81[ASN][1000 genomes]
rs6425233	0.84[ASN][1000 genomes]
rs6696012	0.93[ASN][1000 genomes]
rs6702835	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7314	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7537938	0.87[ASN][1000 genomes]
rs7540065	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556003	0.81[ASN][1000 genomes]
rs9425718	0.93[ASN][1000 genomes]
rs9425719	0.93[ASN][1000 genomes]
rs9425724	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr1:173444400-173448600	Active TSS	HSMMtube	muscle
2	chr1:173444800-173449000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:173445200-173449000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:173445600-173448600	Active TSS	Psoas Muscle	Psoas
5	chr1:173445600-173448800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:173445600-173448800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr1:173445600-173449000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr1:173445600-173449000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:173446600-173449600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:173446800-173449600	Active TSS	Right Atrium	heart
11	chr1:173447000-173448800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr1:173447000-173448800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr1:173447000-173448800	Flanking Active TSS	HMEC	breast
14	chr1:173447200-173448800	Flanking Active TSS	Liver	Liver
15	chr1:173447200-173448800	Flanking Active TSS	Dnd41	blood
16	chr1:173447200-173448800	Flanking Active TSS	HUVEC	blood vessel
17	chr1:173447200-173448800	Flanking Active TSS	Osteobl	bone
18	chr1:173447200-173449000	Flanking Active TSS	NH-A	brain
19	chr1:173447400-173448600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:173447400-173449000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:173447400-173449000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr1:173447400-173449000	Flanking Active TSS	NHDF-Ad	bronchial
23	chr1:173447400-173449400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:173447400-173449600	Transcr. at gene 5' and 3'	K562	blood
25	chr1:173447600-173448600	Flanking Active TSS	Hela-S3	cervix
26	chr1:173447600-173448800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:173447600-173448800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr1:173447600-173448800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:173447600-173448800	Flanking Active TSS	NHEK	skin
30	chr1:173447600-173449000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr1:173447600-173449000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:173447600-173449000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr1:173447600-173449200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:173447600-173449400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr1:173447600-173449600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:173447600-173449600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:173447600-173449600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr1:173447600-173449600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr1:173447600-173450400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:173447600-173450400	Weak transcription	Aorta	Aorta
41	chr1:173447600-173450400	Weak transcription	Gastric	stomach
42	chr1:173447600-173450400	Weak transcription	Spleen	Spleen
43	chr1:173447800-173448600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr1:173447800-173448800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:173447800-173448800	Enhancers	Stomach Mucosa	stomach
46	chr1:173447800-173448800	Flanking Active TSS	HepG2	liver
47	chr1:173447800-173449000	Enhancers	Small Intestine	intestine
48	chr1:173447800-173449000	Transcr. at gene 5' and 3'	HSMM	muscle
49	chr1:173447800-173449200	Active TSS	Brain Anterior Caudate	brain
50	chr1:173447800-173449400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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