Variant report

Variant	rs12031089
Chromosome Location	chr1:224075336-224075337
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224061505..224063787-chr1:224074137..224075680,2	K562	blood:
2	chr1:224064879..224067819-chr1:224073518..224075866,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12022914	0.83[ASN][1000 genomes]
rs12022920	0.83[ASN][1000 genomes]
rs12024059	0.83[ASN][1000 genomes]
rs12025911	0.97[ASN][1000 genomes]
rs12027762	0.97[ASN][1000 genomes]
rs12028843	0.83[ASN][1000 genomes]
rs12029400	1.00[ASN][1000 genomes]
rs12031127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12031539	1.00[ASN][1000 genomes]
rs12031859	0.83[ASN][1000 genomes]
rs12032205	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12032254	1.00[ASN][1000 genomes]
rs12032570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12033388	1.00[ASN][1000 genomes]
rs12033399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12033405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12034120	0.85[ASN][1000 genomes]
rs12034364	1.00[ASN][1000 genomes]
rs12034534	1.00[ASN][1000 genomes]
rs12034737	1.00[ASN][1000 genomes]
rs12034914	0.85[ASN][1000 genomes]
rs12035506	0.95[ASN][1000 genomes]
rs12035610	0.90[ASN][1000 genomes]
rs12036636	1.00[ASN][1000 genomes]
rs12036693	1.00[ASN][1000 genomes]
rs12036717	0.85[ASN][1000 genomes]
rs12037893	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12038665	0.83[ASN][1000 genomes]
rs12038706	0.85[ASN][1000 genomes]
rs12039721	0.85[ASN][1000 genomes]
rs12040996	0.85[ASN][1000 genomes]
rs12044652	0.85[ASN][1000 genomes]
rs12044659	0.85[ASN][1000 genomes]
rs12047342	0.85[ASN][1000 genomes]
rs12047952	0.97[ASN][1000 genomes]
rs16842259	0.83[ASN][1000 genomes]
rs1981168	1.00[ASN][1000 genomes]
rs1981169	1.00[ASN][1000 genomes]
rs1981170	1.00[ASN][1000 genomes]
rs28370160	0.81[ASN][1000 genomes]
rs4274023	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60681980	0.97[ASN][1000 genomes]
rs61437308	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	esv1793921	chr1:224048131-224105965	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1817834	chr1:224052449-224095114	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1803377	chr1:224052449-224108920	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv522556	chr1:224061898-224075483	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1818074	chr1:224069625-224092240	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv17562	chr1:224074599-224112449	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224072200-224076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:224072200-224077000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:224072400-224076000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:224073000-224077400	Enhancers	Liver	Liver
5	chr1:224073600-224076200	Enhancers	Psoas Muscle	Psoas
6	chr1:224074000-224075400	Enhancers	Hela-S3	cervix
7	chr1:224074200-224075400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:224074200-224075400	Enhancers	A549	lung
9	chr1:224074200-224076200	Enhancers	Fetal Muscle Leg	muscle
10	chr1:224074400-224075400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:224074400-224075400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:224074400-224075400	Enhancers	NHLF	lung
13	chr1:224074400-224075600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:224074400-224076200	Enhancers	Right Atrium	heart
15	chr1:224074400-224079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:224074600-224075400	Enhancers	NH-A	brain
17	chr1:224074600-224075800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:224074600-224076000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:224074800-224075600	Enhancers	Left Ventricle	heart
20	chr1:224074800-224075800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:224075000-224075400	Weak transcription	NHEK	skin
22	chr1:224075000-224075600	Enhancers	Fetal Heart	heart
23	chr1:224075000-224075600	Enhancers	HSMM	muscle
24	chr1:224075000-224075600	Enhancers	NHDF-Ad	bronchial
25	chr1:224075000-224075600	Enhancers	Osteobl	bone
26	chr1:224075000-224075800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:224075000-224075800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr1:224075200-224075400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:224075200-224075400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:224075200-224075400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:224075200-224075400	Flanking Active TSS	HSMMtube	muscle
32	chr1:224075200-224075600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:224075200-224075600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:224075200-224075600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:224075200-224075800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:224075200-224076200	Enhancers	Fetal Stomach	stomach

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