Variant report

Variant	rs12140272
Chromosome Location	chr1:85789757-85789758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10782550	0.85[ASN][1000 genomes]
rs11161597	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161599	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801146	0.82[ASN][1000 genomes]
rs12118950	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12120551	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12122816	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123745	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12125900	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12128907	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12129502	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12130145	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12130591	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12131926	0.81[EUR][1000 genomes]
rs12132677	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12133722	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12135333	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12138621	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138852	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12139958	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12140170	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12140457	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12140935	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12717763	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12724823	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12736004	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12743049	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12758237	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12758768	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1498374	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608536	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17384381	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17388521	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2076699	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2300639	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2300640	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28529751	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34561661	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35193119	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35240561	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35761966	0.90[ASN][1000 genomes]
rs36110608	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3768223	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71652696	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85774600-85794800	Weak transcription	Spleen	Spleen
2	chr1:85774800-85790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:85774800-85790600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:85774800-85794200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:85778200-85790400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:85780000-85791800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:85780000-85795800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:85780200-85790400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:85780200-85795800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:85780400-85791600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:85780400-85793200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:85780400-85795800	Weak transcription	Gastric	stomach
13	chr1:85781800-85792800	Weak transcription	Pancreas	Pancrea
14	chr1:85782200-85790600	Genic enhancers	Muscle Satellite Cultured Cells	--
15	chr1:85782400-85795000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:85782800-85794600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:85783000-85795800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:85783200-85795800	Weak transcription	Aorta	Aorta
19	chr1:85783800-85789800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:85783800-85791000	Genic enhancers	Osteobl	bone
21	chr1:85784000-85790400	Weak transcription	Left Ventricle	heart
22	chr1:85784000-85794600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:85784600-85794600	Weak transcription	Fetal Lung	lung
24	chr1:85785800-85789800	Strong transcription	Fetal Intestine Large	intestine
25	chr1:85786200-85790400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:85786400-85791200	Strong transcription	Fetal Intestine Small	intestine
27	chr1:85786600-85790000	Weak transcription	Fetal Heart	heart
28	chr1:85786600-85790400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:85786600-85790600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:85786600-85791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:85786600-85791600	Weak transcription	Fetal Kidney	kidney
32	chr1:85786800-85790400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:85787200-85790600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:85787200-85793600	Weak transcription	HSMMtube	muscle
35	chr1:85787400-85790400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:85787400-85790600	Weak transcription	Hela-S3	cervix
37	chr1:85787400-85791600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:85787600-85790800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:85787600-85791000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:85787600-85791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:85787600-85791400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:85788000-85790000	Weak transcription	Brain Germinal Matrix	brain
43	chr1:85788000-85790400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:85788600-85789800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:85788600-85790400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:85788600-85790600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:85788600-85790600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:85788600-85797400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:85788800-85790200	Weak transcription	A549	lung
50	chr1:85788800-85791000	Weak transcription	HMEC	breast

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