Variant report

Variant	rs73326501
Chromosome Location	chr12:67824865-67824866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67824090..67825052-chr12:67835259..67836288,4	MCF-7	breast:
2	chr12:67822398..67825852-chr12:67826641..67830656,5	MCF-7	breast:
3	chr12:67824150..67825044-chr12:68331354..68332021,2	MCF-7	breast:
4	chr12:67824554..67829846-chr12:68041224..68045203,8	MCF-7	breast:
5	chr12:67820987..67824264-chr12:67824816..67827435,5	K562	blood:

Variant related genes	Relation type
ENSG00000127334	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17103864	1.00[EUR][1000 genomes]
rs17103875	0.83[EUR][1000 genomes]
rs73328481	0.83[EUR][1000 genomes]
rs73328487	0.83[EUR][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	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67817800-67830600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr12:67818600-67827000	Enhancers	Fetal Intestine Small	intestine
3	chr12:67818600-67832000	Enhancers	Fetal Intestine Large	intestine
4	chr12:67819600-67825400	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr12:67819600-67831400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:67820000-67828600	Weak transcription	Pancreas	Pancrea
7	chr12:67820000-67828800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:67820200-67829000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:67820600-67825200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:67821000-67826000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:67821400-67830600	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr12:67822000-67825000	Weak transcription	Colonic Mucosa	Colon
13	chr12:67822000-67827200	Weak transcription	GM12878-XiMat	blood
14	chr12:67822200-67825000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:67822200-67827600	Weak transcription	Small Intestine	intestine
16	chr12:67822400-67827200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:67822400-67827600	Weak transcription	Stomach Mucosa	stomach
18	chr12:67823000-67827200	Weak transcription	HMEC	breast
19	chr12:67823000-67827200	Weak transcription	NHEK	skin
20	chr12:67823200-67827400	Weak transcription	HepG2	liver
21	chr12:67823400-67825400	Enhancers	Fetal Stomach	stomach
22	chr12:67823400-67825400	Enhancers	Ovary	ovary
23	chr12:67823400-67825600	Enhancers	Fetal Kidney	kidney
24	chr12:67823800-67825000	Enhancers	Aorta	Aorta
25	chr12:67824000-67825200	Enhancers	Fetal Lung	lung
26	chr12:67824000-67825600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:67824000-67825800	Enhancers	NHDF-Ad	bronchial
28	chr12:67824000-67826000	Enhancers	Psoas Muscle	Psoas
29	chr12:67824000-67826000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr12:67824200-67825400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:67824200-67825400	Enhancers	Fetal Muscle Leg	muscle
32	chr12:67824200-67825600	Enhancers	Liver	Liver
33	chr12:67824200-67828600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:67824400-67825400	Enhancers	Adipose Nuclei	Adipose
35	chr12:67824600-67825000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:67824600-67825400	Enhancers	HSMMtube	muscle
37	chr12:67824800-67825000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:67824800-67825200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:67824800-67825200	Enhancers	Brain Hippocampus Middle	brain
40	chr12:67824800-67825200	Enhancers	HSMM	muscle
41	chr12:67824800-67825400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:67824800-67825400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr12:67824800-67825600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:67824800-67825600	Weak transcription	Brain Angular Gyrus	brain
45	chr12:67824800-67825600	Enhancers	Duodenum Mucosa	Duodenum
46	chr12:67824800-67825600	Enhancers	Fetal Heart	heart
47	chr12:67824800-67825600	Enhancers	NHLF	lung
48	chr12:67824800-67825800	Enhancers	Rectal Smooth Muscle	rectum
49	chr12:67824800-67828800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:67824800-67829000	Weak transcription	Placenta	Placenta

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