Variant report

Variant	rs2279833
Chromosome Location	chr12:118854804-118854805
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	chr12:118843686..118846621-chr12:118854145..118856022,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12581553	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17625759	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs514826	0.81[ASN][1000 genomes]
rs56237350	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs572869	0.81[ASN][1000 genomes]
rs59848754	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7298005	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7307848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311865	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7960344	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs882926	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955134	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs956873	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr12:118815800-118855200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:118816000-118862000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:118816200-118863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:118816400-118855000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:118816400-118855400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr12:118816800-118855000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:118816800-118855200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:118816800-118855400	Strong transcription	Primary T cells from cord blood	blood
9	chr12:118816800-118856600	Strong transcription	Placenta	Placenta
10	chr12:118817000-118855600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:118817000-118856000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:118817200-118855400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:118817200-118856600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:118817200-118856600	Strong transcription	Fetal Intestine Large	intestine
15	chr12:118817400-118855000	Strong transcription	Liver	Liver
16	chr12:118817400-118855200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:118817400-118855400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:118822000-118856200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:118823400-118855000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:118830000-118856800	Strong transcription	Adipose Nuclei	Adipose
21	chr12:118830800-118857400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:118836200-118856800	Strong transcription	Fetal Muscle Leg	muscle
23	chr12:118838200-118855000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:118840400-118856000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:118840800-118855000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:118841000-118856200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:118843000-118855000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:118843400-118855200	Strong transcription	Fetal Stomach	stomach
29	chr12:118843600-118855200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr12:118846000-118855800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:118846600-118856000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:118846800-118855000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:118846800-118855000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr12:118847000-118855000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:118847200-118855200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:118847200-118855200	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr12:118847200-118856400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr12:118847400-118855000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:118847400-118855000	Strong transcription	Lung	lung
40	chr12:118847400-118857000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:118847600-118855000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:118847600-118855000	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr12:118847600-118855200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:118847600-118855200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:118847600-118855800	Strong transcription	A549	lung
46	chr12:118848400-118856000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr12:118848600-118855000	Strong transcription	Fetal Intestine Small	intestine
48	chr12:118848600-118855000	Strong transcription	Left Ventricle	heart
49	chr12:118848800-118855000	Strong transcription	Colon Smooth Muscle	Colon
50	chr12:118848800-118855000	Strong transcription	Right Ventricle	heart

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