Variant report

Variant	rs12916473
Chromosome Location	chr15:75321999-75322000
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75320623..75324392-chr15:75326315..75329283,4	K562	blood:
2	chr15:75321592..75322142-chr15:75566565..75567153,2	MCF-7	breast:
3	chr15:75321381..75322163-chr15:75591397..75591903,2	MCF-7	breast:
4	chr15:75321286..75323042-chr15:75496777..75497847,27	K562	blood:
5	chr15:75314427..75332274-chr15:75491598..75502885,56	MCF-7	breast:
6	chr15:75321284..75322601-chr15:75494010..75494988,6	K562	blood:
7	chr15:75321743..75322266-chr15:75334995..75335833,2	MCF-7	breast:
8	chr15:75321516..75324460-chr15:75459942..75461573,2	MCF-7	breast:
9	chr15:75314704..75323577-chr15:75491522..75500562,29	MCF-7	breast:
10	chr15:75321350..75322254-chr15:75493363..75493944,2	MCF-7	breast:
11	chr15:75321482..75322238-chr15:75494273..75494864,3	MCF-7	breast:
12	chr15:75321302..75322293-chr15:75496812..75497792,15	MCF-7	breast:
13	chr15:75321657..75322201-chr15:75335761..75336283,2	K562	blood:
14	chr15:75314737..75326433-chr15:75490770..75500610,30	K562	blood:
15	chr15:75312886..75327225-chr15:75491522..75500922,36	K562	blood:
16	chr15:75320338..75322055-chr15:75659198..75660857,2	K562	blood:
17	chr15:75320936..75323384-chr15:75742999..75744813,2	K562	blood:
18	chr15:75319473..75322181-chr17:62205905..62208887,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178607	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000140400	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000167173	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4594228	1.00[AFR][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	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75316600-75336800	Weak transcription	Fetal Brain Female	brain
2	chr15:75316800-75322000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr15:75316800-75322000	Weak transcription	Brain Angular Gyrus	brain
4	chr15:75316800-75322000	Weak transcription	Fetal Brain Male	brain
5	chr15:75316800-75322000	Weak transcription	Psoas Muscle	Psoas
6	chr15:75316800-75322000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:75316800-75322600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:75316800-75322800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:75316800-75338800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:75317000-75322000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:75317200-75322000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr15:75317200-75335000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr15:75317600-75322000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:75317800-75322000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:75317800-75322000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:75318000-75341400	Weak transcription	Brain Germinal Matrix	brain
17	chr15:75320200-75322800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:75320400-75323000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:75320600-75323800	Genic enhancers	Fetal Muscle Trunk	muscle
20	chr15:75320800-75322800	Enhancers	Brain Hippocampus Middle	brain
21	chr15:75320800-75322800	Enhancers	Fetal Muscle Leg	muscle
22	chr15:75320800-75323000	Enhancers	K562	blood
23	chr15:75320800-75323200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:75321000-75322000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr15:75321000-75322400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr15:75321000-75322600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr15:75321000-75322800	Enhancers	Spleen	Spleen
28	chr15:75321000-75323000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr15:75321000-75323000	Enhancers	Brain Substantia Nigra	brain
30	chr15:75321000-75323000	Enhancers	Stomach Mucosa	stomach
31	chr15:75321200-75322800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr15:75321200-75323000	Genic enhancers	Fetal Stomach	stomach
33	chr15:75321400-75322000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:75321400-75322000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:75321400-75322000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:75321400-75322400	Enhancers	Primary B cells from peripheral blood	blood
37	chr15:75321400-75322400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr15:75321400-75322600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:75321400-75322600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr15:75321400-75322800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:75321400-75322800	Enhancers	Brain Anterior Caudate	brain
42	chr15:75321400-75322800	Genic enhancers	Fetal Intestine Large	intestine
43	chr15:75321400-75323000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr15:75321400-75323000	Enhancers	Liver	Liver
45	chr15:75321400-75323000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr15:75321400-75323000	Enhancers	Duodenum Mucosa	Duodenum
47	chr15:75321400-75323200	Genic enhancers	Fetal Intestine Small	intestine
48	chr15:75321400-75326600	Enhancers	Primary B cells from cord blood	blood
49	chr15:75321600-75322000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:75321600-75322200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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