Variant report

Variant	rs73411044
Chromosome Location	chr12:123495728-123495729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123495379..123497416-chr12:123735794..123738601,2	MCF-7	breast:
2	chr12:123494754..123497414-chr12:123717630..123719730,2	K562	blood:
3	chr12:123464088..123467689-chr12:123493302..123498202,6	MCF-7	breast:
4	chr12:123490178..123492960-chr12:123494344..123496225,2	K562	blood:
5	chr12:123495256..123498165-chr12:123500426..123502065,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130921	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000265603	Chromatin interaction
ENSG00000090975	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs57143069	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57190557	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57530745	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58251569	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58283587	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58463629	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58570201	1.00[AMR][1000 genomes]
rs59107122	1.00[AMR][1000 genomes]
rs59312127	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60052793	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60442043	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60543890	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60726563	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61685353	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408808	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408811	1.00[AMR][1000 genomes]
rs73408817	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408823	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408840	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408867	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408884	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408885	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408886	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408898	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411020	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411029	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411039	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411046	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411050	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411070	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411082	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411085	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411096	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411101	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413207	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413234	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413271	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413279	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413285	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417309	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417352	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
8	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123466800-123516000	Weak transcription	Small Intestine	intestine
2	chr12:123467600-123504000	Weak transcription	Hela-S3	cervix
3	chr12:123469200-123498600	Strong transcription	Primary T cells from cord blood	blood
4	chr12:123469400-123509400	Weak transcription	NHDF-Ad	bronchial
5	chr12:123469400-123509600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:123470200-123512800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung
8	chr12:123472000-123499000	Strong transcription	Thymus	Thymus
9	chr12:123472800-123500400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:123473400-123501000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:123473800-123500800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:123483200-123496800	Weak transcription	Psoas Muscle	Psoas
13	chr12:123485200-123496200	Strong transcription	Fetal Thymus	thymus
14	chr12:123487400-123497600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:123487600-123498800	Strong transcription	Fetal Stomach	stomach
16	chr12:123488000-123497400	Strong transcription	Ovary	ovary
17	chr12:123488000-123498400	Strong transcription	Right Ventricle	heart
18	chr12:123488000-123498800	Strong transcription	Fetal Intestine Small	intestine
19	chr12:123488400-123498600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:123488600-123498600	Strong transcription	Liver	Liver
21	chr12:123488800-123498400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:123489200-123512400	Weak transcription	Aorta	Aorta
23	chr12:123490000-123515800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:123490200-123498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:123490200-123503600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:123490200-123511000	Weak transcription	Pancreas	Pancrea
27	chr12:123490200-123528200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:123490400-123503200	Weak transcription	NHEK	skin
29	chr12:123490400-123503800	Weak transcription	A549	lung
30	chr12:123491200-123498400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr12:123491200-123498800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:123491200-123503000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:123491400-123498400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:123491400-123498400	Strong transcription	Adipose Nuclei	Adipose
35	chr12:123491400-123498600	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:123491400-123498800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:123491400-123498800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:123491600-123496200	Strong transcription	Placenta	Placenta
39	chr12:123491600-123496600	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:123491600-123497600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:123491600-123497800	Strong transcription	Fetal Muscle Leg	muscle
42	chr12:123491600-123498000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:123491600-123498200	Strong transcription	Left Ventricle	heart
44	chr12:123491600-123498400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:123491600-123498800	Strong transcription	Lung	lung
46	chr12:123491600-123526400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:123491800-123496000	Strong transcription	Esophagus	oesophagus
48	chr12:123491800-123496000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr12:123491800-123503400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:123492000-123496000	Strong transcription	Brain Cingulate Gyrus	brain

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