Variant report

Variant	rs73411085
Chromosome Location	chr12:123548457-123548458
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123546664..123549233-chr12:123586175..123588803,2	MCF-7	breast:
2	chr12:123546572..123549007-chr12:123579476..123581464,2	MCF-7	breast:
3	chr12:123547288..123551146-chr12:123559107..123563202,4	MCF-7	breast:
4	chr12:123547555..123551371-chr12:123552619..123557163,4	MCF-7	breast:
5	chr12:123545212..123549412-chr12:123716616..123719797,3	MCF-7	breast:
6	chr12:123544642..123548641-chr12:123611003..123613032,3	K562	blood:
7	chr12:123523014..123525784-chr12:123547595..123549554,2	MCF-7	breast:
8	chr12:123546470..123548882-chr12:123596558..123599374,2	MCF-7	breast:
9	chr12:123547606..123549243-chr12:123635108..123637286,2	MCF-7	breast:
10	chr12:123547591..123550519-chr12:123566743..123569004,2	K562	blood:
11	chr12:123547502..123550130-chr12:123566313..123570146,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction
ENSG00000251497	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000130921	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs57143069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57190557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57530745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58251569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58283587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58463629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58570201	1.00[AMR][1000 genomes]
rs59107122	1.00[AMR][1000 genomes]
rs59312127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60052793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60442043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60543890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60726563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60817665	0.85[AFR][1000 genomes]
rs61685353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408811	1.00[AMR][1000 genomes]
rs73408817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411044	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417352	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr12:123537800-123551200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:123539600-123552600	Enhancers	Right Ventricle	heart
3	chr12:123539800-123549600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:123541800-123551200	Enhancers	Fetal Muscle Leg	muscle
5	chr12:123542200-123551200	Enhancers	Fetal Muscle Trunk	muscle
6	chr12:123542600-123550400	Enhancers	NHDF-Ad	bronchial
7	chr12:123542600-123550600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:123542600-123550800	Enhancers	Placenta	Placenta
9	chr12:123542800-123563800	Enhancers	Left Ventricle	heart
10	chr12:123543000-123549600	Enhancers	NHLF	lung
11	chr12:123543000-123551400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:123543200-123548800	Enhancers	Brain Anterior Caudate	brain
13	chr12:123543200-123549000	Enhancers	Adipose Nuclei	Adipose
14	chr12:123543200-123552600	Enhancers	Lung	lung
15	chr12:123543400-123548800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:123543400-123550200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:123543400-123551000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:123543400-123551200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr12:123543400-123551400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:123543400-123552600	Enhancers	Right Atrium	heart
21	chr12:123543600-123550200	Enhancers	Spleen	Spleen
22	chr12:123543600-123552600	Enhancers	Brain Hippocampus Middle	brain
23	chr12:123543800-123549600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:123543800-123559000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:123544000-123552800	Enhancers	Psoas Muscle	Psoas
26	chr12:123544000-123559000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:123544600-123550800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:123544600-123554800	Weak transcription	Fetal Lung	lung
29	chr12:123545000-123552200	Enhancers	Primary T cells from cord blood	blood
30	chr12:123545400-123551000	Enhancers	Pancreas	Pancrea
31	chr12:123545800-123551000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:123546000-123552600	Transcr. at gene 5' and 3'	Thymus	Thymus
33	chr12:123546200-123549600	Enhancers	Fetal Intestine Small	intestine
34	chr12:123546200-123551000	Enhancers	Primary B cells from peripheral blood	blood
35	chr12:123546400-123548600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr12:123546400-123549200	Enhancers	Fetal Intestine Large	intestine
37	chr12:123546400-123549400	Enhancers	Fetal Stomach	stomach
38	chr12:123546400-123549600	Enhancers	Primary B cells from cord blood	blood
39	chr12:123546400-123551000	Enhancers	Brain Angular Gyrus	brain
40	chr12:123546400-123562400	Enhancers	Liver	Liver
41	chr12:123546600-123548800	Enhancers	Rectal Smooth Muscle	rectum
42	chr12:123546600-123549600	Enhancers	HSMMtube	muscle
43	chr12:123546600-123550800	Enhancers	Aorta	Aorta
44	chr12:123546600-123551000	Enhancers	Brain Substantia Nigra	brain
45	chr12:123546600-123551000	Enhancers	Fetal Brain Male	brain
46	chr12:123546600-123551200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr12:123546600-123552400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr12:123546800-123548600	Enhancers	Colon Smooth Muscle	Colon
49	chr12:123546800-123548600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr12:123546800-123549400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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