Variant report

Variant	rs1682605
Chromosome Location	chr12:83410255-83410256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83409479..83411224-chr12:83411247..83412794,2	K562	blood:
2	chr12:83409329..83411312-chr12:83542800..83545681,4	K562	blood:

Variant related genes	Relation type
ENSG00000213270	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10082865	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1036343	0.84[EUR][1000 genomes]
rs10746263	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10778925	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10778926	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10778928	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778930	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862536	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10862537	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10862538	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10862540	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10862541	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10862542	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12824406	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1369035	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484992	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1617818	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619500	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1623131	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1624819	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1655592	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1655593	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1655594	0.82[ASN][1000 genomes]
rs1655595	0.82[ASN][1000 genomes]
rs1655596	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1655597	0.93[ASN][1000 genomes]
rs1655598	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1655599	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1655601	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1655602	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1655603	0.90[ASN][1000 genomes]
rs1655604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1655605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1655606	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1655608	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1682577	0.90[ASN][1000 genomes]
rs1682584	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1682585	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1682586	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1682587	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1682588	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1682589	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1682600	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1682601	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1682602	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1682604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796144	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1796145	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1796146	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796151	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1796152	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1796153	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1796154	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1796175	0.96[ASN][1000 genomes]
rs1796176	0.90[ASN][1000 genomes]
rs1796191	0.96[ASN][1000 genomes]
rs1796192	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796193	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796194	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796195	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796196	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796197	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796198	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796199	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796205	0.90[ASN][1000 genomes]
rs1796206	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1796207	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1796292	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796293	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796294	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1821443	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1836247	0.96[ASN][1000 genomes]
rs1865357	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2019742	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082647	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2082648	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2086909	0.90[ASN][1000 genomes]
rs2403054	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2629040	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2629041	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2952614	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3940515	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4569064	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6539699	0.82[ASN][1000 genomes]
rs7135727	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314831	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs745156	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485212	0.81[AMR][1000 genomes]
rs7487579	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8181714	0.81[ASN][1000 genomes]
rs963363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs963364	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv559557	chr12:83334204-83453620	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	nsv1047239	chr12:83362299-83444855	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83404400-83417200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:83404400-83420800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:83404400-83422000	Weak transcription	Esophagus	oesophagus
4	chr12:83405000-83436200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:83405400-83410400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:83405400-83410600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:83405400-83411200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:83406000-83410400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:83408800-83413400	Enhancers	Fetal Stomach	stomach
10	chr12:83409000-83410600	Enhancers	Stomach Mucosa	stomach
11	chr12:83409000-83411000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:83409000-83411600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:83409200-83410400	Flanking Active TSS	Fetal Lung	lung
14	chr12:83409200-83410600	Enhancers	HMEC	breast
15	chr12:83409400-83410400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:83409400-83410400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr12:83409400-83410400	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr12:83409400-83410400	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr12:83409400-83410400	Flanking Active TSS	HUVEC	blood vessel
20	chr12:83409400-83410400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr12:83409400-83410400	Enhancers	NHEK	skin
22	chr12:83409400-83410600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:83409400-83411000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr12:83409400-83411200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr12:83409400-83411600	Enhancers	Brain Cingulate Gyrus	brain
26	chr12:83409600-83410400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:83409600-83410600	Enhancers	HSMM	muscle
28	chr12:83409600-83410600	Enhancers	HSMMtube	muscle
29	chr12:83409600-83411000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:83409600-83411200	Enhancers	Brain Anterior Caudate	brain
31	chr12:83409600-83412400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:83409800-83410400	Active TSS	Brain Hippocampus Middle	brain
33	chr12:83409800-83410600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:83409800-83410600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr12:83409800-83411200	Enhancers	Brain Angular Gyrus	brain
36	chr12:83409800-83411400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr12:83409800-83411600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:83409800-83412800	Enhancers	Fetal Heart	heart
39	chr12:83409800-83414000	Weak transcription	Fetal Brain Male	brain
40	chr12:83409800-83417200	Weak transcription	Pancreas	Pancrea
41	chr12:83410000-83410400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:83410000-83411000	Enhancers	NH-A	brain
43	chr12:83410000-83411200	Enhancers	Hela-S3	cervix
44	chr12:83410000-83412400	Enhancers	Fetal Muscle Leg	muscle
45	chr12:83410000-83412600	Enhancers	Rectal Smooth Muscle	rectum
46	chr12:83410200-83410400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:83410200-83410400	Genic enhancers	Primary monocytes fromperipheralblood	blood
48	chr12:83410200-83410400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:83410200-83410400	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr12:83410200-83410400	Flanking Active TSS	Brain Substantia Nigra	brain

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