Variant report

Variant	rs12140117
Chromosome Location	chr1:224699805-224699806
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224693369..224695979-chr1:224697952..224700518,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10753474	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10916626	0.80[ASN][1000 genomes]
rs10916628	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10916629	0.91[EUR][1000 genomes]
rs10916630	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10916631	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10916632	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12093242	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12140906	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12141016	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141708	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12142949	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12566578	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1891243	0.81[ASN][1000 genomes]
rs1891244	0.94[EUR][1000 genomes]
rs2648743	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3738367	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4653589	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59319739	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61825792	0.94[EUR][1000 genomes]
rs6426133	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665956	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6688146	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6695773	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6699035	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs712065	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs712066	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541723	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7541917	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7545252	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7550648	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs791504	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224690000-224702000	Enhancers	Liver	Liver
2	chr1:224692000-224701600	Weak transcription	Fetal Lung	lung
3	chr1:224692400-224701600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:224692600-224700600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:224694200-224704000	Weak transcription	Right Atrium	heart
6	chr1:224694200-224717600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:224694200-224727600	Weak transcription	Brain Anterior Caudate	brain
8	chr1:224696400-224701200	Weak transcription	Fetal Kidney	kidney
9	chr1:224696400-224716600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:224697000-224700000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:224697200-224702200	Enhancers	Dnd41	blood
12	chr1:224698200-224700600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:224698600-224700600	Weak transcription	Fetal Intestine Large	intestine
14	chr1:224698600-224701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:224698600-224701200	Weak transcription	Adipose Nuclei	Adipose
16	chr1:224698600-224701400	Weak transcription	Ovary	ovary
17	chr1:224698600-224701400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:224698800-224700000	Weak transcription	HepG2	liver
19	chr1:224698800-224701000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:224698800-224701200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:224698800-224701200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:224698800-224701400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:224699000-224700200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:224699000-224700400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:224699000-224700600	Weak transcription	Stomach Mucosa	stomach
26	chr1:224699000-224701400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:224699000-224701600	Weak transcription	NHDF-Ad	bronchial
28	chr1:224699200-224700600	Weak transcription	Fetal Intestine Small	intestine
29	chr1:224699200-224701200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:224699200-224701200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:224699200-224701400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:224699200-224701400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:224699200-224701400	Weak transcription	K562	blood
34	chr1:224699200-224701600	Weak transcription	NH-A	brain
35	chr1:224699200-224701600	Weak transcription	NHEK	skin
36	chr1:224699200-224704200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:224699200-224704600	Weak transcription	HSMM	muscle
38	chr1:224699400-224701200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:224699400-224701200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:224699400-224701200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:224699400-224701600	Weak transcription	HMEC	breast
42	chr1:224699400-224701600	Weak transcription	NHLF	lung

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