Variant report

Variant	rs12122816
Chromosome Location	chr1:85792384-85792385
allele	C/T
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	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161599	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801146	0.82[ASN][1000 genomes]
rs12118950	0.92[ASN][1000 genomes]
rs12120551	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12123745	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12125900	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12128907	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12129502	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12130145	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12130591	0.90[ASN][1000 genomes]
rs12132677	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12133722	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12135333	0.91[ASN][1000 genomes]
rs12138621	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138852	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12139958	0.86[ASN][1000 genomes]
rs12140170	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12140272	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140457	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12140935	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12717763	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12724823	0.90[ASN][1000 genomes]
rs12736004	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12743049	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12757160	0.82[AMR][1000 genomes]
rs12758237	0.92[ASN][1000 genomes]
rs12758768	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1498374	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608536	0.92[ASN][1000 genomes]
rs17384381	0.90[ASN][1000 genomes]
rs17388521	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2076699	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2300639	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2300640	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28529751	0.90[ASN][1000 genomes]
rs34561661	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35193119	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs35240561	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35761966	0.90[ASN][1000 genomes]
rs36110608	0.95[ASN][1000 genomes]
rs3768223	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71652696	0.86[AFR][1000 genomes];0.84[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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85774600-85794800	Weak transcription	Spleen	Spleen
2	chr1:85774800-85794200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:85780000-85795800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:85780200-85795800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:85780400-85793200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:85780400-85795800	Weak transcription	Gastric	stomach
7	chr1:85781800-85792800	Weak transcription	Pancreas	Pancrea
8	chr1:85782400-85795000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:85782800-85794600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:85783000-85795800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:85783200-85795800	Weak transcription	Aorta	Aorta
12	chr1:85784000-85794600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:85784600-85794600	Weak transcription	Fetal Lung	lung
14	chr1:85787200-85793600	Weak transcription	HSMMtube	muscle
15	chr1:85788600-85797400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:85789400-85795800	Weak transcription	Liver	Liver
17	chr1:85789600-85794600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:85789800-85795800	Weak transcription	Fetal Stomach	stomach
19	chr1:85789800-85795800	Weak transcription	Lung	lung
20	chr1:85790000-85795600	Enhancers	NHDF-Ad	bronchial
21	chr1:85790200-85795200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:85790400-85793800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:85790400-85795600	Weak transcription	Brain Germinal Matrix	brain
24	chr1:85790400-85796200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:85790400-85797000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:85790600-85794200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:85790600-85794400	Enhancers	Hela-S3	cervix
28	chr1:85790600-85800000	Enhancers	HUVEC	blood vessel
29	chr1:85790800-85793800	Enhancers	HSMM	muscle
30	chr1:85790800-85794400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:85790800-85794600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:85791000-85792600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:85791000-85792600	Enhancers	HMEC	breast
34	chr1:85791000-85792600	Enhancers	NHEK	skin
35	chr1:85791000-85793000	Enhancers	Osteobl	bone
36	chr1:85791000-85793600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:85791000-85794200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:85791000-85794200	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:85791000-85794600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:85791000-85796800	Enhancers	HepG2	liver
41	chr1:85791200-85792600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:85791200-85792800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:85791200-85792800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:85791200-85792800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:85791200-85794000	Weak transcription	Left Ventricle	heart
46	chr1:85791200-85794200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr1:85791200-85794800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:85791200-85798000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:85791400-85792400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr1:85791400-85792600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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