Variant report

Variant	rs4759204
Chromosome Location	chr12:56242470-56242471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56242307..56243158-chr12:56319929..56320703,2	K562	blood:
2	chr12:56212745..56216725-chr12:56242057..56244419,3	K562	blood:
3	chr12:56240938..56242512-chr12:56243413..56245568,2	MCF-7	breast:
4	chr12:56234675..56238778-chr12:56240052..56242647,4	MCF-7	breast:
5	chr12:56232992..56234564-chr12:56240310..56243141,2	K562	blood:

Variant related genes	Relation type
ENSG00000257390	Chromatin interaction
ENSG00000123342	Chromatin interaction

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

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

rs_ID	r²[population]
rs7301691	0.83[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	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56225800-56244000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:56236800-56242600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:56237200-56244000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:56239200-56242600	Enhancers	Fetal Muscle Leg	muscle
5	chr12:56239200-56243800	Enhancers	Fetal Muscle Trunk	muscle
6	chr12:56239400-56243400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:56240400-56242800	Enhancers	NHLF	lung
8	chr12:56240800-56242800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:56240800-56242800	Enhancers	Placenta	Placenta
10	chr12:56240800-56242800	Enhancers	HMEC	breast
11	chr12:56240800-56243000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:56240800-56243000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:56240800-56243200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:56240800-56245000	Enhancers	Right Atrium	heart
15	chr12:56241000-56242600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:56241200-56242800	Enhancers	Brain Angular Gyrus	brain
17	chr12:56241200-56242800	Enhancers	Fetal Stomach	stomach
18	chr12:56241400-56242600	Enhancers	Aorta	Aorta
19	chr12:56241400-56242600	Enhancers	Brain Cingulate Gyrus	brain
20	chr12:56241400-56242800	Bivalent Enhancer	HepG2	liver
21	chr12:56241600-56242600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:56241800-56242600	Weak transcription	Brain Anterior Caudate	brain
23	chr12:56241800-56242800	Enhancers	Fetal Kidney	kidney
24	chr12:56241800-56243000	Enhancers	HUVEC	blood vessel
25	chr12:56241800-56244000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:56242000-56242800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:56242000-56242800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr12:56242000-56244200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:56242000-56244200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:56242000-56244400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:56242000-56246200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:56242200-56242600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr12:56242200-56242600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr12:56242200-56242800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:56242200-56242800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:56242200-56242800	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr12:56242200-56242800	Enhancers	NH-A	brain
38	chr12:56242200-56243000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:56242200-56243000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:56242200-56243400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:56242200-56244200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:56242400-56242600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:56242400-56242600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr12:56242400-56242600	Enhancers	Lung	lung
45	chr12:56242400-56242600	Enhancers	Right Ventricle	heart
46	chr12:56242400-56242600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr12:56242400-56242600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
48	chr12:56242400-56242600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
49	chr12:56242400-56242600	Enhancers	Spleen	Spleen
50	chr12:56242400-56242600	Flanking Active TSS	K562	blood

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