Variant report

Variant	rs56405424
Chromosome Location	chr12:57467180-57467181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57465821..57469934-chr12:57470632..57472882,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166881	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs55707312	0.83[AMR][1000 genomes]
rs73131106	0.83[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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899110	chr12:57422934-57472502	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv899111	chr12:57438658-57472502	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr12:57420400-57471800	Weak transcription	Gastric	stomach
2	chr12:57437000-57471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57442200-57471600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:57448000-57472800	Weak transcription	Fetal Heart	heart
5	chr12:57448600-57471800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:57449000-57467200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:57449000-57468800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:57449000-57470600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:57452600-57472800	Weak transcription	Fetal Brain Male	brain
10	chr12:57453800-57471800	Weak transcription	Esophagus	oesophagus
11	chr12:57453800-57471800	Weak transcription	Lung	lung
12	chr12:57453800-57471800	Weak transcription	Pancreas	Pancrea
13	chr12:57453800-57471800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:57453800-57471800	Weak transcription	Right Ventricle	heart
15	chr12:57453800-57471800	Weak transcription	Small Intestine	intestine
16	chr12:57453800-57472000	Weak transcription	Aorta	Aorta
17	chr12:57454000-57471200	Weak transcription	Fetal Brain Female	brain
18	chr12:57454200-57471400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:57454400-57471200	Weak transcription	Brain Germinal Matrix	brain
20	chr12:57454400-57471600	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:57454600-57471800	Weak transcription	Left Ventricle	heart
22	chr12:57454600-57471800	Weak transcription	HSMMtube	muscle
23	chr12:57454800-57471800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:57460400-57471800	Weak transcription	Stomach Mucosa	stomach
25	chr12:57462600-57471600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:57463000-57471400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:57463800-57467200	Strong transcription	Fetal Muscle Leg	muscle
28	chr12:57463800-57471400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:57463800-57471400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:57463800-57471400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:57463800-57471400	Weak transcription	Fetal Kidney	kidney
32	chr12:57463800-57471600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:57463800-57471800	Weak transcription	Brain Angular Gyrus	brain
34	chr12:57463800-57471800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:57463800-57471800	Weak transcription	Fetal Intestine Large	intestine
36	chr12:57463800-57471800	Weak transcription	Psoas Muscle	Psoas
37	chr12:57463800-57471800	Weak transcription	Spleen	Spleen
38	chr12:57464000-57467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:57464000-57469200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:57464000-57471200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:57464000-57471400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr12:57464000-57471400	Weak transcription	Liver	Liver
43	chr12:57464200-57471400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:57464400-57471800	Weak transcription	Brain Anterior Caudate	brain
45	chr12:57464600-57471200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:57464600-57471200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:57464600-57471200	Weak transcription	NH-A	brain
48	chr12:57464600-57471400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:57464600-57471800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:57464800-57471400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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