Variant report

Variant	rs2954114
Chromosome Location	chr12:122169884-122169885
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122163003..122165142-chr12:122169048..122171086,2	K562	blood:
2	chr12:122149101..122151899-chr12:122169083..122170683,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188735	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12814006	0.86[EUR][1000 genomes]
rs2669170	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2720030	0.87[EUR][1000 genomes]
rs2720031	0.87[EUR][1000 genomes]
rs2942373	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34933970	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7976443	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv560459	chr12:122167095-122185780	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122151600-122186200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:122152000-122182200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:122152000-122188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:122152200-122181600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:122152200-122181800	Weak transcription	Right Ventricle	heart
6	chr12:122152200-122186400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:122152200-122188000	Weak transcription	Brain Germinal Matrix	brain
8	chr12:122152200-122188000	Weak transcription	Dnd41	blood
9	chr12:122152200-122191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:122152200-122191600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:122152200-122200200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:122152400-122171600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:122152400-122188000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:122152800-122186200	Weak transcription	Pancreas	Pancrea
15	chr12:122154000-122182200	Weak transcription	Primary T cells from cord blood	blood
16	chr12:122154200-122200400	Weak transcription	Psoas Muscle	Psoas
17	chr12:122155200-122170000	Weak transcription	Adipose Nuclei	Adipose
18	chr12:122155200-122181600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:122155200-122182400	Weak transcription	NHEK	skin
20	chr12:122155200-122186400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:122155400-122178600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:122155600-122186200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:122157000-122174800	Weak transcription	Hela-S3	cervix
24	chr12:122157200-122179600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:122157200-122182400	Weak transcription	GM12878-XiMat	blood
26	chr12:122158200-122171800	Weak transcription	K562	blood
27	chr12:122158800-122171800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:122158800-122175000	Weak transcription	Osteobl	bone
29	chr12:122158800-122186200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:122158800-122186200	Weak transcription	NHDF-Ad	bronchial
31	chr12:122158800-122186400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:122159000-122186200	Weak transcription	NH-A	brain
33	chr12:122159200-122170200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:122159200-122181600	Weak transcription	NHLF	lung
35	chr12:122159200-122186400	Weak transcription	HSMM	muscle
36	chr12:122159400-122194800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:122159600-122181600	Weak transcription	Brain Angular Gyrus	brain
38	chr12:122161800-122181600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:122162400-122176400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:122163400-122181400	Weak transcription	Fetal Stomach	stomach
41	chr12:122163400-122186200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:122163600-122170000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:122163600-122170000	Weak transcription	A549	lung
44	chr12:122163600-122171600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:122163600-122180400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:122163600-122182000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr12:122163600-122186200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:122163600-122186200	Weak transcription	Liver	Liver
49	chr12:122163600-122186600	Weak transcription	HSMMtube	muscle
50	chr12:122163600-122188000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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