Variant report

Variant	rs12026548
Chromosome Location	chr1:223982576-223982577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223913291..223915988-chr1:223981454..223983055,2	K562	blood:
2	chr1:223974924..223977423-chr1:223981900..223984346,2	MCF-7	breast:
3	chr1:223982215..223984387-chr1:223987440..223989506,2	K562	blood:
4	chr1:223981509..223983436-chr1:223983532..223986465,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10158199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10159010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10159015	0.81[ASN][1000 genomes]
rs1153962	1.00[EUR][1000 genomes]
rs1153966	1.00[EUR][1000 genomes]
rs12022914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12022920	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12022934	0.83[CHB][hapmap]
rs12024059	0.95[ASN][1000 genomes]
rs12025911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12027762	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12028843	0.95[ASN][1000 genomes]
rs12031859	0.95[ASN][1000 genomes]
rs12034120	0.93[ASN][1000 genomes]
rs12034645	0.83[CHB][hapmap]
rs12034914	0.93[ASN][1000 genomes]
rs12035506	0.83[ASN][1000 genomes]
rs12036390	0.83[ASN][1000 genomes]
rs12036573	0.83[CHB][hapmap]
rs12036717	0.93[ASN][1000 genomes]
rs12037507	0.83[CHB][hapmap]
rs12038665	0.95[ASN][1000 genomes]
rs12038706	0.93[ASN][1000 genomes]
rs12039721	0.93[ASN][1000 genomes]
rs12040996	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12043790	1.00[ASN][1000 genomes]
rs12044358	1.00[ASN][1000 genomes]
rs12044652	0.93[ASN][1000 genomes]
rs12044659	0.93[ASN][1000 genomes]
rs12047342	0.93[ASN][1000 genomes]
rs12047952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12088254	0.83[CHB][hapmap];0.85[ASN][1000 genomes]
rs1222131	1.00[EUR][1000 genomes]
rs12239402	1.00[EUR][1000 genomes]
rs12239445	1.00[EUR][1000 genomes]
rs12239678	1.00[EUR][1000 genomes]
rs13375296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1542507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16842078	1.00[EUR][1000 genomes]
rs16842173	1.00[EUR][1000 genomes]
rs16842177	1.00[EUR][1000 genomes]
rs16842201	1.00[EUR][1000 genomes]
rs16842217	1.00[EUR][1000 genomes]
rs16842234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842259	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16842291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842341	0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1890119	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2230082	1.00[EUR][1000 genomes]
rs28370064	1.00[EUR][1000 genomes]
rs28370079	1.00[EUR][1000 genomes]
rs28370095	0.93[ASN][1000 genomes]
rs28370099	1.00[EUR][1000 genomes]
rs28370112	0.93[ASN][1000 genomes]
rs28370115	0.93[ASN][1000 genomes]
rs28370160	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28370161	1.00[EUR][1000 genomes]
rs28370162	1.00[EUR][1000 genomes]
rs28370166	1.00[ASN][1000 genomes]
rs28370174	1.00[ASN][1000 genomes]
rs28370177	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28370178	1.00[ASN][1000 genomes]
rs28458390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28684725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3754088	0.93[ASN][1000 genomes]
rs3767710	1.00[ASN][1000 genomes]
rs3767712	0.91[CHB][hapmap];0.93[ASN][1000 genomes]
rs3767713	0.93[ASN][1000 genomes]
rs3820474	0.95[ASN][1000 genomes]
rs3820481	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41345146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41405749	1.00[YRI][hapmap]
rs56947789	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57380389	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58753599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59433589	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59793743	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59948383	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59970447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60681980	0.81[ASN][1000 genomes]
rs61437308	0.95[ASN][1000 genomes]
rs61824005	0.85[ASN][1000 genomes]
rs73114413	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125398	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73127405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127411	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127438	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127450	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs747811	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7538151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7552702	0.81[ASN][1000 genomes]
rs8179303	0.83[CHB][hapmap]
rs9286986	1.00[EUR][1000 genomes]
rs9804140	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9970756	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223956600-224004600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr1:223956600-224004600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:223957000-223983400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:223960200-223998600	Strong transcription	Fetal Thymus	thymus
5	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:223960600-223986800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:223960600-223995200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:223960600-224001400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:223960800-223995400	Weak transcription	GM12878-XiMat	blood
10	chr1:223961800-224004400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:223962600-223983600	Weak transcription	Psoas Muscle	Psoas
12	chr1:223963400-223983800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:223964000-223985600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:223964400-224008000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:223965400-223983800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:223966600-223983600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:223968400-223984000	Weak transcription	Colonic Mucosa	Colon
18	chr1:223968600-223983000	Weak transcription	Small Intestine	intestine
19	chr1:223969000-223983400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:223969200-223983400	Weak transcription	HepG2	liver
21	chr1:223969800-223995200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:223970000-223995200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:223970600-223990400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:223971200-223983400	Weak transcription	Esophagus	oesophagus
25	chr1:223971400-223983400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:223971400-223985200	Weak transcription	Gastric	stomach
27	chr1:223971400-223985800	Weak transcription	Aorta	Aorta
28	chr1:223972000-223983400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:223972000-223983600	Weak transcription	Right Ventricle	heart
30	chr1:223972000-223985400	Weak transcription	HMEC	breast
31	chr1:223972200-223982800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:223972200-223983400	Weak transcription	A549	lung
33	chr1:223972200-223983600	Weak transcription	Fetal Kidney	kidney
34	chr1:223972800-223995200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr1:223973200-223996000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:223973800-223983400	Weak transcription	Ovary	ovary
37	chr1:223973800-223983400	Weak transcription	NHLF	lung
38	chr1:223973800-223983600	Weak transcription	Pancreas	Pancrea
39	chr1:223974000-223983000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:223974000-223995000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:223974200-223983200	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:223974200-223983200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:223974200-223983400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:223975000-223989800	Strong transcription	Liver	Liver
45	chr1:223975800-223984400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:223975800-223995200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:223976400-223985800	Weak transcription	Hela-S3	cervix
48	chr1:223976800-224003000	Weak transcription	Fetal Heart	heart
49	chr1:223977000-223983000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:223977000-223983400	Weak transcription	Lung	lung

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