Variant report

Variant	rs73384160
Chromosome Location	chr12:104917728-104917729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104913735..104915662-chr12:104916731..104918448,2	K562	blood:
2	chr12:104849686..104852352-chr12:104916410..104918510,2	K562	blood:
3	chr12:104907056..104912149-chr12:104913273..104918297,6	K562	blood:
4	chr12:104909660..104911855-chr12:104915030..104918297,3	K562	blood:
5	chr12:104908202..104911501-chr12:104915065..104918852,3	MCF-7	breast:
6	chr12:104849686..104853120-chr12:104916879..104918907,3	K562	blood:

Variant related genes	Relation type
ENSG00000258111	Chromatin interaction
ENSG00000171310	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12306787	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307498	1.00[AMR][1000 genomes]
rs12311871	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317943	1.00[AMR][1000 genomes]
rs73384136	1.00[AMR][1000 genomes]
rs73384149	1.00[AMR][1000 genomes]
rs73384150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73384152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73384169	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104901200-104919200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:104901800-104920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:104908600-104920600	Weak transcription	Right Ventricle	heart
4	chr12:104909400-104919200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:104909400-104919400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:104909800-104919400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:104910400-104918200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:104911000-104921800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:104911400-104918600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:104912000-104919200	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:104912400-104918400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:104912800-104919200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:104913200-104917800	Enhancers	Right Atrium	heart
14	chr12:104913200-104918600	Enhancers	Placenta	Placenta
15	chr12:104913400-104918600	Enhancers	Spleen	Spleen
16	chr12:104913600-104919600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:104914000-104918600	Enhancers	Primary hematopoietic stem cells	blood
18	chr12:104914000-104921200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:104914400-104918200	Enhancers	NHDF-Ad	bronchial
20	chr12:104914400-104919400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:104914600-104920400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:104914800-104919600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:104914800-104919600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:104914800-104920200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:104915000-104918200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr12:104915200-104918200	Enhancers	HUVEC	blood vessel
27	chr12:104915200-104918200	Enhancers	Osteobl	bone
28	chr12:104915200-104918400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:104915200-104919800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:104915400-104918800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:104915400-104920200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:104915600-104917800	Enhancers	Dnd41	blood
33	chr12:104915600-104918200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr12:104915600-104918400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:104915600-104918400	Enhancers	Fetal Brain Female	brain
36	chr12:104915600-104919600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr12:104915600-104920000	Weak transcription	Brain Germinal Matrix	brain
38	chr12:104915600-104936600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:104915800-104918000	Weak transcription	Brain Substantia Nigra	brain
40	chr12:104915800-104920200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:104916200-104918200	Enhancers	Fetal Thymus	thymus
42	chr12:104916200-104918400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr12:104916200-104918600	Enhancers	Fetal Brain Male	brain
44	chr12:104916400-104918200	Enhancers	Primary T cells fromperipheralblood	blood
45	chr12:104916400-104918600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:104916400-104918600	Enhancers	Left Ventricle	heart
47	chr12:104916400-104919200	Enhancers	Primary T cells from cord blood	blood
48	chr12:104916600-104917800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:104916600-104917800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr12:104916600-104917800	Flanking Active TSS	GM12878-XiMat	blood

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