Variant report

Variant	rs73406948
Chromosome Location	chr12:123362542-123362543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123359999..123363082-chr12:123363364..123366412,4	MCF-7	breast:
2	chr12:123361905..123363893-chr12:123371746..123374359,2	MCF-7	breast:
3	chr12:123362099..123364653-chr12:123375458..123377701,2	K562	blood:
4	chr12:123358138..123360225-chr12:123360853..123363329,2	MCF-7	breast:
5	chr12:123336928..123338440-chr12:123360381..123363029,2	K562	blood:

Variant related genes	Relation type
ENSG00000130787	Chromatin interaction

Extended variants
information (count: 28 )
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]
rs73406954	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:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123355800-123363600	Weak transcription	Dnd41	blood
2	chr12:123356200-123368600	Weak transcription	Hela-S3	cervix
3	chr12:123356600-123364200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:123356800-123363600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:123356800-123369200	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:123356800-123370000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:123357000-123362800	Enhancers	Fetal Muscle Trunk	muscle
8	chr12:123357000-123365600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:123357000-123369800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:123357000-123373000	Weak transcription	Aorta	Aorta
11	chr12:123357200-123363800	Weak transcription	K562	blood
12	chr12:123357200-123365200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:123357800-123362800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:123358200-123367200	Weak transcription	HUVEC	blood vessel
15	chr12:123358600-123363400	Weak transcription	Esophagus	oesophagus
16	chr12:123358800-123371400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:123359000-123365000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:123359000-123365200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:123359000-123368400	Weak transcription	Fetal Intestine Large	intestine
20	chr12:123359000-123369600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr12:123359400-123366000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr12:123359600-123365000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:123359600-123366200	Enhancers	Right Atrium	heart
24	chr12:123360000-123362600	Enhancers	Adipose Nuclei	Adipose
25	chr12:123360200-123362600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:123360200-123363600	Strong transcription	Fetal Intestine Small	intestine
27	chr12:123360400-123363600	Weak transcription	Gastric	stomach
28	chr12:123360400-123363800	Weak transcription	Colonic Mucosa	Colon
29	chr12:123360400-123365400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:123360600-123363600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:123360800-123362600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:123360800-123363400	Weak transcription	Thymus	Thymus
33	chr12:123360800-123363600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:123360800-123364200	Weak transcription	Brain Anterior Caudate	brain
35	chr12:123360800-123364600	Enhancers	Spleen	Spleen
36	chr12:123360800-123364800	Weak transcription	Brain Angular Gyrus	brain
37	chr12:123360800-123364800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:123360800-123368800	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:123361000-123362800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:123361000-123362800	Enhancers	Psoas Muscle	Psoas
41	chr12:123361200-123365400	Genic enhancers	Lung	lung
42	chr12:123361200-123365600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:123361400-123362600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:123361400-123362600	Enhancers	Ovary	ovary
45	chr12:123361400-123362600	Genic enhancers	Rectal Mucosa Donor 29	rectum
46	chr12:123361400-123362600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
47	chr12:123361400-123362600	Enhancers	HepG2	liver
48	chr12:123361400-123363400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:123361400-123364000	Weak transcription	Brain Substantia Nigra	brain
50	chr12:123361400-123365400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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