Variant report

Variant	rs73393894
Chromosome Location	chr12:105477925-105477926
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105476762..105478986-chr12:105499431..105503042,4	K562	blood:
2	chr12:105476808..105479481-chr12:105501524..105503382,3	K562	blood:
3	chr12:105477772..105479851-chr12:105501425..105505225,4	MCF-7	breast:
4	chr12:105477899..105479847-chr12:105501301..105502988,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257999	Chromatin interaction
ENSG00000136051	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs59840770	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60167837	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73393833	0.85[ASN][1000 genomes]
rs73393835	0.85[ASN][1000 genomes]
rs73393841	0.85[ASN][1000 genomes]
rs73393842	0.85[ASN][1000 genomes]
rs73393866	0.97[ASN][1000 genomes]
rs73393869	0.97[ASN][1000 genomes]
rs73393881	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73393882	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7959931	0.85[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105475000-105478000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:105476200-105478000	Flanking Active TSS	Osteobl	bone
3	chr12:105476400-105478200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:105476600-105478600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:105476800-105478000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
6	chr12:105476800-105478000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
7	chr12:105476800-105478000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr12:105476800-105478000	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr12:105476800-105478000	Flanking Active TSS	NH-A	brain
10	chr12:105476800-105478200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:105477000-105478000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr12:105477000-105478000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr12:105477000-105478800	Active TSS	Brain Angular Gyrus	brain
14	chr12:105477200-105478000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr12:105477200-105478000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:105477200-105478000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr12:105477200-105478000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr12:105477200-105478000	Flanking Active TSS	GM12878-XiMat	blood
19	chr12:105477200-105478200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:105477200-105478200	Active TSS	Brain Substantia Nigra	brain
21	chr12:105477200-105478200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr12:105477200-105478400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:105477200-105478400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:105477200-105478400	Active TSS	HMEC	breast
25	chr12:105477200-105478400	Active TSS	HSMMtube	muscle
26	chr12:105477200-105478600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr12:105477200-105478600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:105477200-105478600	Active TSS	Colon Smooth Muscle	Colon
29	chr12:105477200-105478600	Active TSS	NHDF-Ad	bronchial
30	chr12:105477200-105478800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:105477200-105478800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:105477200-105478800	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr12:105477200-105478800	Active TSS	HSMM	muscle
34	chr12:105477200-105479000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr12:105477400-105478000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:105477400-105478000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr12:105477400-105478000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:105477400-105478000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:105477400-105478000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
40	chr12:105477400-105478000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
41	chr12:105477400-105478000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr12:105477400-105478000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:105477400-105478000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:105477400-105478000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:105477400-105478000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
46	chr12:105477400-105478000	Flanking Active TSS	Fetal Brain Male	brain
47	chr12:105477400-105478000	Flanking Active TSS	Fetal Heart	heart
48	chr12:105477400-105478000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr12:105477400-105478000	Flanking Active TSS	Left Ventricle	heart
50	chr12:105477400-105478000	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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