Variant report

Variant	rs73290379
Chromosome Location	chr12:46915967-46915968
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46763774..46766489-chr12:46915686..46917593,2	MCF-7	breast:
2	chr12:46912625..46916029-chr12:46919758..46923382,3	K562	blood:
3	chr12:46914529..46916503-chr12:46919514..46921258,2	K562	blood:
4	chr12:46764738..46768711-chr12:46912622..46917783,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC38A2-3	chr12:46915618-46916304	NONHSAT027883

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56669049	1.00[AFR][1000 genomes]
rs56838582	1.00[AFR][1000 genomes]
rs57410946	0.83[AFR][1000 genomes]
rs59321024	1.00[AFR][1000 genomes]
rs73290358	1.00[AFR][1000 genomes]
rs73290374	1.00[AFR][1000 genomes]
rs73291969	1.00[AFR][1000 genomes]
rs73293933	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46903400-46917800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:46908000-46917400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:46909400-46916000	Enhancers	Ovary	ovary
4	chr12:46909600-46916400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:46910800-46918000	Weak transcription	Psoas Muscle	Psoas
6	chr12:46910800-46920000	Enhancers	Fetal Lung	lung
7	chr12:46911000-46917000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:46911000-46917000	Weak transcription	Lung	lung
9	chr12:46911000-46917200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:46911200-46917200	Weak transcription	Left Ventricle	heart
11	chr12:46911200-46917200	Weak transcription	Thymus	Thymus
12	chr12:46911200-46918000	Weak transcription	Pancreas	Pancrea
13	chr12:46911400-46917200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:46911400-46917200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:46911400-46917200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:46911600-46916400	Weak transcription	Dnd41	blood
17	chr12:46911600-46916800	Weak transcription	Fetal Thymus	thymus
18	chr12:46911600-46922800	Weak transcription	Primary B cells from cord blood	blood
19	chr12:46911800-46916400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:46911800-46916600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:46911800-46917200	Weak transcription	Fetal Intestine Small	intestine
22	chr12:46911800-46921800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:46912000-46917200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:46912000-46917200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:46912400-46916800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:46912400-46916800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:46912400-46917200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:46912600-46917800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:46912800-46917800	Weak transcription	Adipose Nuclei	Adipose
30	chr12:46913200-46917000	Enhancers	HepG2	liver
31	chr12:46913400-46916400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:46913400-46917400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:46913600-46917200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:46913600-46918000	Weak transcription	Aorta	Aorta
35	chr12:46913600-46921400	Weak transcription	GM12878-XiMat	blood
36	chr12:46914000-46916000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:46914600-46916000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr12:46914600-46917600	Enhancers	Primary T cells from cord blood	blood
39	chr12:46914800-46916000	Enhancers	Fetal Muscle Leg	muscle
40	chr12:46914800-46916600	Enhancers	Fetal Stomach	stomach
41	chr12:46914800-46917200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:46914800-46917200	Weak transcription	K562	blood
43	chr12:46915000-46916000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr12:46915000-46916000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:46915000-46916000	Enhancers	Fetal Kidney	kidney
46	chr12:46915000-46916000	Enhancers	Rectal Smooth Muscle	rectum
47	chr12:46915000-46916400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:46915200-46916800	Weak transcription	Placenta	Placenta
49	chr12:46915200-46917200	Weak transcription	Right Atrium	heart
50	chr12:46915200-46917200	Weak transcription	Small Intestine	intestine

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