Variant report

Variant	rs73415659
Chromosome Location	chr12:122399348-122399349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122233788..122236172-chr12:122398855..122400644,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272849	Chromatin interaction
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11833399	1.00[AMR][1000 genomes]
rs12299502	1.00[AMR][1000 genomes]
rs12301316	1.00[AMR][1000 genomes]
rs57845241	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59071684	1.00[AMR][1000 genomes]
rs73413782	1.00[AMR][1000 genomes]
rs73415609	1.00[AMR][1000 genomes]
rs73415629	0.84[AFR][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	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122363600-122408000	Weak transcription	Right Ventricle	heart
2	chr12:122365800-122405000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:122370600-122403200	Weak transcription	Fetal Kidney	kidney
4	chr12:122374000-122402800	Weak transcription	HSMM	muscle
5	chr12:122374000-122405600	Weak transcription	Adipose Nuclei	Adipose
6	chr12:122375400-122401400	Weak transcription	Ovary	ovary
7	chr12:122375400-122402600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:122375800-122415800	Weak transcription	Liver	Liver
9	chr12:122376000-122401600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:122376000-122413000	Weak transcription	Aorta	Aorta
11	chr12:122377400-122406200	Weak transcription	Thymus	Thymus
12	chr12:122380600-122401600	Weak transcription	Pancreas	Pancrea
13	chr12:122380800-122405800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:122381000-122400000	Weak transcription	Spleen	Spleen
15	chr12:122381000-122405800	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:122382200-122402200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:122382600-122399600	Weak transcription	K562	blood
18	chr12:122388400-122399800	Weak transcription	NHLF	lung
19	chr12:122388400-122401800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:122391400-122410800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:122391600-122402800	Weak transcription	A549	lung
22	chr12:122391600-122405600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:122391800-122410800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:122393200-122402000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:122394000-122429800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:122394200-122402800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:122394200-122407600	Weak transcription	Brain Angular Gyrus	brain
28	chr12:122394200-122411000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:122394200-122411200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:122396000-122408000	Weak transcription	Fetal Intestine Small	intestine
31	chr12:122396400-122399600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:122396400-122401800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:122396600-122408200	Weak transcription	Fetal Brain Female	brain
34	chr12:122396600-122439200	Weak transcription	Brain Anterior Caudate	brain
35	chr12:122396800-122401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:122396800-122402800	Weak transcription	NH-A	brain
37	chr12:122396800-122410800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:122397000-122401000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:122397200-122402600	Weak transcription	NHDF-Ad	bronchial
40	chr12:122397200-122403000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:122397200-122406000	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:122397200-122408400	Weak transcription	Brain Substantia Nigra	brain
43	chr12:122397400-122400000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:122397400-122400000	Weak transcription	HMEC	breast
45	chr12:122397600-122403000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:122397600-122406000	Weak transcription	Esophagus	oesophagus
47	chr12:122398000-122400800	Weak transcription	Brain Germinal Matrix	brain
48	chr12:122398400-122400400	Strong transcription	Osteobl	bone
49	chr12:122398600-122400200	Genic enhancers	NHEK	skin
50	chr12:122398600-122400400	Strong transcription	HSMMtube	muscle

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