Variant report

Variant	rs2686358
Chromosome Location	chr12:121753713-121753714
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	chr12:121752880..121755223-chr12:121756738..121758316,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11065526	0.83[EUR][1000 genomes]
rs12579382	0.93[ASN][1000 genomes]
rs2001701	0.86[ASN][1000 genomes]
rs2007651	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280067	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2461474	0.86[ASN][1000 genomes]
rs2686350	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2686356	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2686359	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2942064	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2942065	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2942067	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2948123	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2948127	0.86[ASN][1000 genomes]
rs2948129	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2948132	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3751162	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59997381	0.88[ASN][1000 genomes]
rs7134657	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7297531	0.82[ASN][1000 genomes]
rs7971785	0.86[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121735600-121755600	Weak transcription	Brain Angular Gyrus	brain
2	chr12:121735600-121755800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:121735600-121755800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:121735600-121755800	Weak transcription	Aorta	Aorta
5	chr12:121735600-121755800	Weak transcription	Esophagus	oesophagus
6	chr12:121735800-121754000	Weak transcription	Fetal Kidney	kidney
7	chr12:121735800-121755800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:121735800-121755800	Weak transcription	Right Ventricle	heart
9	chr12:121735800-121756000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:121735800-121764200	Weak transcription	Fetal Heart	heart
11	chr12:121736000-121761200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:121738400-121755800	Weak transcription	Psoas Muscle	Psoas
13	chr12:121741400-121754000	Weak transcription	HepG2	liver
14	chr12:121742400-121754800	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:121742600-121766200	Weak transcription	Fetal Brain Male	brain
16	chr12:121744000-121763600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:121744200-121783400	Weak transcription	Stomach Mucosa	stomach
18	chr12:121744800-121754000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:121746400-121755400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:121746600-121754600	Weak transcription	NHDF-Ad	bronchial
21	chr12:121746600-121755600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:121746600-121755800	Weak transcription	Small Intestine	intestine
23	chr12:121747400-121755800	Weak transcription	Colonic Mucosa	Colon
24	chr12:121747600-121754600	Weak transcription	Left Ventricle	heart
25	chr12:121747600-121754800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:121747800-121754000	Weak transcription	Ovary	ovary
27	chr12:121747800-121754600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:121747800-121754600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:121747800-121755200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:121747800-121755200	Weak transcription	Brain Germinal Matrix	brain
31	chr12:121747800-121755400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:121747800-121755600	Weak transcription	Spleen	Spleen
33	chr12:121747800-121755800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:121747800-121755800	Weak transcription	Gastric	stomach
35	chr12:121747800-121755800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:121748000-121754000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:121748000-121754200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:121748000-121754600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:121748000-121754800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:121748000-121754800	Weak transcription	NH-A	brain
41	chr12:121748000-121755800	Weak transcription	Lung	lung
42	chr12:121748000-121755800	Weak transcription	HSMMtube	muscle
43	chr12:121748000-121756200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:121748200-121754000	Weak transcription	Primary B cells from cord blood	blood
45	chr12:121748200-121754000	Weak transcription	HMEC	breast
46	chr12:121748200-121754600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:121748200-121754800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:121748200-121755400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr12:121748200-121755600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:121748400-121755800	Weak transcription	Brain Anterior Caudate	brain

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