Variant report

Variant	rs73406957
Chromosome Location	chr12:123367417-123367418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123349944..123351476-chr12:123367250..123369233,2	K562	blood:
2	chr12:123357674..123359965-chr12:123366472..123369443,2	MCF-7	breast:
3	chr12:123365783..123368770-chr12:123465841..123468621,2	K562	blood:
4	chr12:123364142..123368499-chr12:123374436..123379970,6	K562	blood:

Variant related genes	Relation type
ENSG00000139722	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000182196	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]
rs73406954	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:105 , 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	chr12:123357000-123369800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:123357000-123373000	Weak transcription	Aorta	Aorta
6	chr12:123358800-123371400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:123359000-123368400	Weak transcription	Fetal Intestine Large	intestine
8	chr12:123359000-123369600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:123360800-123368800	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:123362200-123367600	Enhancers	Primary T cells from cord blood	blood
11	chr12:123362400-123368400	Weak transcription	Liver	Liver
12	chr12:123364000-123371000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:123364200-123370600	Weak transcription	Esophagus	oesophagus
14	chr12:123364400-123368400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:123365000-123370600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:123365200-123367600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:123365200-123367600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:123365200-123369000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:123365200-123371000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:123365200-123373000	Weak transcription	Fetal Stomach	stomach
21	chr12:123365400-123368200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:123365400-123368400	Weak transcription	NHEK	skin
23	chr12:123365400-123369000	Enhancers	Fetal Thymus	thymus
24	chr12:123365400-123369600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:123365400-123373000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:123365600-123367600	Enhancers	Primary B cells from peripheral blood	blood
27	chr12:123365600-123368400	Weak transcription	HMEC	breast
28	chr12:123365600-123368600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:123365800-123367600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:123365800-123368400	Weak transcription	HSMMtube	muscle
31	chr12:123365800-123368600	Weak transcription	NH-A	brain
32	chr12:123365800-123368600	Weak transcription	Osteobl	bone
33	chr12:123365800-123371600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:123365800-123371800	Weak transcription	Fetal Lung	lung
35	chr12:123366000-123367600	Enhancers	Primary B cells from cord blood	blood
36	chr12:123366000-123367800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:123366000-123368400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:123366000-123368400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:123366000-123368400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:123366000-123368400	Weak transcription	HepG2	liver
41	chr12:123366000-123368400	Weak transcription	HSMM	muscle
42	chr12:123366000-123368400	Weak transcription	NHLF	lung
43	chr12:123366000-123368600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:123366000-123368600	Weak transcription	NHDF-Ad	bronchial
45	chr12:123366000-123368800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:123366000-123368800	Weak transcription	A549	lung
47	chr12:123366000-123369000	Weak transcription	Brain Substantia Nigra	brain
48	chr12:123366000-123370800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:123366000-123370800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:123366000-123370800	Weak transcription	Gastric	stomach

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