Variant report

Variant	rs55758326
Chromosome Location	chr12:50217231-50217232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50172187..50173794-chr12:50215810..50217637,2	MCF-7	breast:
2	chr12:50216203..50220741-chr12:50220862..50224448,8	MCF-7	breast:
3	chr12:50216965..50224421-chr12:50234869..50238255,17	MCF-7	breast:
4	chr12:50186306..50187844-chr12:50216014..50218551,2	K562	blood:
5	chr12:50214966..50217807-chr12:50220350..50223080,3	K562	blood:
6	chr12:50197055..50201000-chr12:50217056..50221303,4	K562	blood:
7	chr12:50216445..50219303-chr12:50297052..50298599,2	K562	blood:
8	chr12:50181461..50183796-chr12:50216518..50220004,3	MCF-7	breast:
9	chr12:50210959..50213852-chr12:50216092..50218529,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186666	Chromatin interaction
ENSG00000258057	Chromatin interaction
ENSG00000167566	Chromatin interaction
ENSG00000135472	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1031477	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11169166	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55677077	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66908137	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50195200-50218400	Weak transcription	K562	blood
2	chr12:50197600-50220400	Weak transcription	A549	lung
3	chr12:50199400-50218400	Weak transcription	HMEC	breast
4	chr12:50200000-50219400	Weak transcription	Gastric	stomach
5	chr12:50202200-50218400	Weak transcription	Fetal Brain Female	brain
6	chr12:50203600-50218000	Weak transcription	NH-A	brain
7	chr12:50203600-50219800	Weak transcription	Aorta	Aorta
8	chr12:50203800-50217800	Weak transcription	NHLF	lung
9	chr12:50203800-50218600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:50204200-50217800	Weak transcription	Fetal Brain Male	brain
11	chr12:50204400-50220200	Weak transcription	Fetal Kidney	kidney
12	chr12:50205200-50219000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:50205200-50220000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:50208800-50221200	Weak transcription	Small Intestine	intestine
15	chr12:50210200-50218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:50210200-50218400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:50212000-50217600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:50213600-50218000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:50213600-50219000	Enhancers	Brain Hippocampus Middle	brain
20	chr12:50213600-50219000	Genic enhancers	Fetal Muscle Leg	muscle
21	chr12:50213800-50218800	Weak transcription	Hela-S3	cervix
22	chr12:50213800-50219000	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr12:50214000-50218200	Weak transcription	NHDF-Ad	bronchial
24	chr12:50214200-50217600	Weak transcription	Fetal Intestine Large	intestine
25	chr12:50214400-50218000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:50214400-50220200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:50214400-50220800	Enhancers	Placenta	Placenta
28	chr12:50214600-50218200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:50215200-50217600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:50215200-50217800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:50215200-50221000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:50215400-50217400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:50215400-50217800	Weak transcription	Spleen	Spleen
34	chr12:50215400-50218400	Enhancers	GM12878-XiMat	blood
35	chr12:50215400-50218600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:50215400-50218800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:50215400-50219000	Weak transcription	Colonic Mucosa	Colon
38	chr12:50215400-50219200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:50215400-50219200	Weak transcription	Pancreas	Pancrea
40	chr12:50215400-50219600	Weak transcription	Liver	Liver
41	chr12:50215600-50217600	Weak transcription	Brain Anterior Caudate	brain
42	chr12:50215600-50217800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr12:50215600-50218000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:50215600-50218000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:50215600-50218200	Weak transcription	Primary B cells from cord blood	blood
46	chr12:50215600-50218200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:50215600-50218400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:50215600-50218600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:50215600-50218800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
50	chr12:50215800-50217400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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