Variant report

Variant	rs12121694
Chromosome Location	chr1:179822278-179822279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179820647..179822358-chr1:179825151..179827760,2	K562	blood:
2	chr1:179783903..179786438-chr1:179821262..179823436,2	K562	blood:
3	chr1:179821213..179823373-chr1:179831118..179833958,2	K562	blood:
4	chr1:179815555..179818166-chr1:179820853..179822407,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1048418	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10494523	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10913894	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913895	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913905	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10913909	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12119431	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126625	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12136091	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12136465	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12143942	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12144991	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16854910	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3845388	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4301600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61740391	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6425596	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6659939	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6673144	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72708661	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72708662	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7527215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531195	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545581	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549317	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9726605	1.00[AMR][1000 genomes];0.99[EUR][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	nsv1005808	chr1:179783922-179864710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005051	chr1:179785643-179861950	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv429947	chr1:179790518-179925104	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv429958	chr1:179814306-179994628	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179795600-179834200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:179802400-179836200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:179803600-179833600	Weak transcription	Fetal Brain Male	brain
4	chr1:179807600-179827400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:179807800-179833800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:179808600-179822600	Strong transcription	Fetal Intestine Large	intestine
7	chr1:179808600-179837000	Strong transcription	Liver	Liver
8	chr1:179808600-179839800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:179808800-179836000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:179809800-179827800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:179810200-179828000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:179812200-179827800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:179812600-179842600	Weak transcription	Stomach Mucosa	stomach
14	chr1:179812800-179822600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:179813000-179822600	Strong transcription	Placenta	Placenta
16	chr1:179813200-179822600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:179813200-179823000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:179813200-179823400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:179813200-179839200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:179813400-179825400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:179813400-179834000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:179814200-179823600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:179814200-179834400	Weak transcription	Fetal Heart	heart
24	chr1:179814400-179839200	Strong transcription	HSMM	muscle
25	chr1:179815000-179822400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr1:179815000-179822800	Strong transcription	NHEK	skin
27	chr1:179815000-179828400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:179815000-179839400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:179815200-179822600	Strong transcription	Primary B cells from cord blood	blood
30	chr1:179815200-179822600	Strong transcription	NHDF-Ad	bronchial
31	chr1:179816000-179836000	Weak transcription	Colonic Mucosa	Colon
32	chr1:179816800-179826400	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:179820200-179825000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:179820200-179825400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:179820200-179825600	Weak transcription	Fetal Intestine Small	intestine
36	chr1:179820200-179825800	Weak transcription	Lung	lung
37	chr1:179820200-179826200	Weak transcription	NHLF	lung
38	chr1:179820200-179829600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:179820200-179831600	Weak transcription	Esophagus	oesophagus
40	chr1:179820200-179834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:179820400-179824600	Weak transcription	Fetal Lung	lung
42	chr1:179820400-179825000	Weak transcription	Aorta	Aorta
43	chr1:179820400-179825000	Weak transcription	Brain Germinal Matrix	brain
44	chr1:179820400-179825400	Weak transcription	Fetal Brain Female	brain
45	chr1:179820400-179825600	Weak transcription	Ovary	ovary
46	chr1:179820400-179825600	Weak transcription	Pancreas	Pancrea
47	chr1:179820400-179825600	Weak transcription	Spleen	Spleen
48	chr1:179820400-179825600	Weak transcription	HMEC	breast
49	chr1:179820400-179825800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:179820400-179825800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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