Variant report

Variant	rs73406954
Chromosome Location	chr12:123365101-123365102
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123363372..123365357-chr12:123379648..123382097,2	MCF-7	breast:
2	chr12:123364797..123365909-chr12:123430977..123432176,4	MCF-7	breast:
3	chr12:123356727..123361663-chr12:123362714..123365634,4	K562	blood:
4	chr12:123365086..123366070-chr12:123436544..123437474,3	MCF-7	breast:
5	chr12:123364125..123366940-chr12:123368799..123371711,4	K562	blood:
6	chr12:123364800..123365963-chr12:123436508..123437755,7	MCF-7	breast:
7	chr12:123359999..123363082-chr12:123363364..123366412,4	MCF-7	breast:
8	chr12:123364142..123368499-chr12:123374436..123379970,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139722	Chromatin interaction
ENSG00000150967	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs34647278	1.00[AMR][1000 genomes]
rs35245907	1.00[AMR][1000 genomes]
rs56718360	1.00[AFR][1000 genomes]
rs57023093	1.00[AMR][1000 genomes]
rs58901651	1.00[AMR][1000 genomes]
rs59065210	1.00[AMR][1000 genomes]
rs60009235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60448869	1.00[AMR][1000 genomes]
rs60589503	1.00[AMR][1000 genomes]
rs61520028	1.00[AMR][1000 genomes]
rs73406914	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406940	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406973	1.00[AMR][1000 genomes]
rs73406977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73415564	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421628	1.00[AMR][1000 genomes]
rs73421644	1.00[AMR][1000 genomes]
rs73421649	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421661	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123356200-123368600	Weak transcription	Hela-S3	cervix
2	chr12:123356800-123369200	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr12:123356800-123370000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:123357000-123365600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:123357000-123369800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:123357000-123373000	Weak transcription	Aorta	Aorta
7	chr12:123357200-123365200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:123358200-123367200	Weak transcription	HUVEC	blood vessel
9	chr12:123358800-123371400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:123359000-123365200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:123359000-123368400	Weak transcription	Fetal Intestine Large	intestine
12	chr12:123359000-123369600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:123359400-123366000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr12:123359600-123366200	Enhancers	Right Atrium	heart
15	chr12:123360400-123365400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:123360800-123368800	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:123361200-123365400	Genic enhancers	Lung	lung
18	chr12:123361200-123365600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:123361400-123365400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:123361600-123365200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:123361600-123365200	Weak transcription	Fetal Brain Male	brain
22	chr12:123361600-123365600	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr12:123361800-123365400	Genic enhancers	Fetal Thymus	thymus
24	chr12:123362200-123365800	Genic enhancers	Fetal Muscle Leg	muscle
25	chr12:123362200-123367600	Enhancers	Primary T cells from cord blood	blood
26	chr12:123362400-123365200	Weak transcription	Small Intestine	intestine
27	chr12:123362400-123365600	Strong transcription	HMEC	breast
28	chr12:123362400-123368400	Weak transcription	Liver	Liver
29	chr12:123363200-123366200	Enhancers	Psoas Muscle	Psoas
30	chr12:123363400-123365400	Genic enhancers	Thymus	Thymus
31	chr12:123363400-123365800	Enhancers	HSMMtube	muscle
32	chr12:123363400-123366200	Enhancers	Left Ventricle	heart
33	chr12:123363400-123366200	Enhancers	Pancreas	Pancrea
34	chr12:123363400-123366200	Enhancers	Stomach Mucosa	stomach
35	chr12:123363600-123365200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:123363600-123365600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:123363600-123365600	Genic enhancers	Rectal Mucosa Donor 29	rectum
38	chr12:123363600-123365800	Genic enhancers	Gastric	stomach
39	chr12:123363600-123366000	Genic enhancers	Primary B cells from cord blood	blood
40	chr12:123363600-123366000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:123363600-123366000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:123363600-123366200	Enhancers	Adipose Nuclei	Adipose
43	chr12:123363600-123366200	Enhancers	Brain Hippocampus Middle	brain
44	chr12:123363600-123366200	Genic enhancers	Fetal Intestine Small	intestine
45	chr12:123363600-123366400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:123363600-123366400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:123363600-123366400	Enhancers	Fetal Heart	heart
48	chr12:123363600-123366400	Enhancers	Placenta	Placenta
49	chr12:123363600-123367000	Enhancers	Primary T cells fromperipheralblood	blood
50	chr12:123363800-123365200	Enhancers	Muscle Satellite Cultured Cells	--

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