Variant report

Variant	rs12083162
Chromosome Location	chr1:95272293-95272294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11165239	1.00[EUR][1000 genomes]
rs11165244	1.00[EUR][1000 genomes]
rs11165250	1.00[EUR][1000 genomes]
rs11165255	1.00[EUR][1000 genomes]
rs11165257	1.00[EUR][1000 genomes]
rs12057287	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12058606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12058766	1.00[EUR][1000 genomes]
rs12059284	1.00[EUR][1000 genomes]
rs12059919	1.00[EUR][1000 genomes]
rs12060754	1.00[EUR][1000 genomes]
rs12063764	1.00[EUR][1000 genomes]
rs12077638	1.00[EUR][1000 genomes]
rs12078728	1.00[EUR][1000 genomes]
rs12079200	1.00[EUR][1000 genomes]
rs12081570	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12085965	1.00[EUR][1000 genomes]
rs12086647	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086825	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12089732	1.00[EUR][1000 genomes]
rs12091334	1.00[EUR][1000 genomes]
rs12091567	1.00[EUR][1000 genomes]
rs12095617	1.00[EUR][1000 genomes]
rs3916208	1.00[EUR][1000 genomes]
rs3931243	1.00[EUR][1000 genomes]
rs56004399	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56075866	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56088880	1.00[EUR][1000 genomes]
rs56252039	1.00[EUR][1000 genomes]
rs56989877	1.00[EUR][1000 genomes]
rs58484675	1.00[EUR][1000 genomes]
rs59906561	1.00[EUR][1000 genomes]
rs60642625	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61371315	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61634360	1.00[EUR][1000 genomes]
rs6665321	1.00[EUR][1000 genomes]
rs72956408	1.00[EUR][1000 genomes]
rs72956422	1.00[EUR][1000 genomes]
rs72956423	1.00[EUR][1000 genomes]
rs72956425	1.00[EUR][1000 genomes]
rs72974472	1.00[EUR][1000 genomes]
rs72974480	1.00[EUR][1000 genomes]
rs74101525	1.00[EUR][1000 genomes]
rs74101528	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101530	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74101532	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74101533	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74101536	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74101553	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74101555	0.82[AFR][1000 genomes]
rs74101559	1.00[EUR][1000 genomes]
rs74101566	1.00[EUR][1000 genomes]
rs74101887	1.00[EUR][1000 genomes]
rs7540383	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95258200-95284800	Weak transcription	Gastric	stomach
2	chr1:95267200-95275200	Enhancers	Fetal Intestine Large	intestine
3	chr1:95267400-95272600	Enhancers	Fetal Muscle Leg	muscle
4	chr1:95268200-95272400	Enhancers	Brain Hippocampus Middle	brain
5	chr1:95268200-95273800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:95268200-95274200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:95268200-95276800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:95268200-95285000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:95268400-95272600	Weak transcription	Dnd41	blood
10	chr1:95269000-95273800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:95269000-95282400	Weak transcription	Right Atrium	heart
12	chr1:95269800-95273400	Weak transcription	Placenta	Placenta
13	chr1:95269800-95274000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:95269800-95275400	Enhancers	Fetal Intestine Small	intestine
15	chr1:95270000-95273600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:95270000-95285000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:95270400-95284800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:95271000-95275400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:95271400-95272600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:95271400-95274800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:95271600-95272400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:95271600-95272400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:95271600-95272400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr1:95271600-95272400	Enhancers	Brain Cingulate Gyrus	brain
25	chr1:95271600-95272400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr1:95271600-95272400	Enhancers	Small Intestine	intestine
27	chr1:95271600-95272400	Flanking Active TSS	HUVEC	blood vessel
28	chr1:95271600-95272400	Enhancers	NH-A	brain
29	chr1:95271600-95272400	Enhancers	NHEK	skin
30	chr1:95271600-95272600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:95271600-95272600	Enhancers	Fetal Brain Male	brain
32	chr1:95271600-95272600	Enhancers	Stomach Mucosa	stomach
33	chr1:95271600-95272600	Enhancers	HSMMtube	muscle
34	chr1:95271600-95272600	Flanking Active TSS	NHDF-Ad	bronchial
35	chr1:95271600-95272800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:95271600-95272800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr1:95271600-95272800	Enhancers	Fetal Stomach	stomach
38	chr1:95271600-95273000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr1:95271600-95274600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr1:95271600-95274600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:95271600-95274800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:95271600-95274800	Enhancers	Fetal Thymus	thymus
43	chr1:95271600-95275000	Enhancers	HepG2	liver
44	chr1:95271800-95272400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:95271800-95272400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:95271800-95272400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:95271800-95272400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:95271800-95272600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:95271800-95272600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr1:95271800-95272600	Enhancers	HSMM	muscle

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