Variant report

Variant	rs41295103
Chromosome Location	chr12:54578764-54578765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:54575531..54577964-chr12:54578549..54581232,2	K562	blood:

Variant related genes	Relation type
ENSG00000123415	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12722489	0.82[ASN][1000 genomes]
rs3118475	0.87[ASN][1000 genomes]
rs41295055	0.89[ASN][1000 genomes]
rs41295075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41295077	0.89[ASN][1000 genomes]
rs41295079	0.89[ASN][1000 genomes]
rs41295105	0.91[ASN][1000 genomes]
rs41295125	1.00[AFR][1000 genomes]
rs62626317	0.89[ASN][1000 genomes]
rs62626325	0.91[ASN][1000 genomes]
rs62626326	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531529	chr12:53617808-54616234	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1353 gene(s)	inside rSNPs	diseases
2	nsv948598	chr12:53856026-54712308	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1376 gene(s)	inside rSNPs	diseases
3	esv3427772	chr12:54305441-54742273	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1569 gene(s)	inside rSNPs	diseases
4	nsv832418	chr12:54410340-54580444	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	914 gene(s)	inside rSNPs	diseases
5	nsv1048638	chr12:54410571-55031557	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1343 gene(s)	inside rSNPs	diseases
6	nsv482373	chr12:54454788-54582389	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv832419	chr12:54457827-54652940	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv832420	chr12:54531056-54690581	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
9	nsv1050451	chr12:54548428-54679811	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:54567600-54581600	Weak transcription	HSMM	muscle
2	chr12:54568200-54580400	Weak transcription	NHDF-Ad	bronchial
3	chr12:54569400-54581200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:54569600-54579600	Weak transcription	HMEC	breast
5	chr12:54569800-54581200	Weak transcription	GM12878-XiMat	blood
6	chr12:54570600-54581000	Weak transcription	HepG2	liver
7	chr12:54570600-54581800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:54571000-54581000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:54572000-54581800	Weak transcription	Psoas Muscle	Psoas
10	chr12:54572000-54582200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:54572800-54579000	Strong transcription	Fetal Stomach	stomach
12	chr12:54572800-54581000	Weak transcription	Stomach Mucosa	stomach
13	chr12:54573200-54580800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:54573200-54582200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:54573400-54578800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr12:54573400-54581800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:54573600-54581800	Weak transcription	NH-A	brain
18	chr12:54573600-54582000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:54573600-54582200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:54573800-54581600	Strong transcription	Fetal Muscle Leg	muscle
21	chr12:54574000-54581800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:54574000-54583000	Weak transcription	Fetal Heart	heart
23	chr12:54574400-54582400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:54574800-54581200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:54575200-54578800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:54575200-54581600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:54575400-54582200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:54575600-54581200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:54575800-54580400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:54576000-54581000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:54576000-54581600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:54576000-54581800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:54576000-54581800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:54576000-54582200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:54576000-54582200	Weak transcription	HSMMtube	muscle
36	chr12:54576200-54580800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:54576200-54581800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:54576200-54581800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:54576400-54581600	Weak transcription	Liver	Liver
40	chr12:54576400-54581800	Weak transcription	Left Ventricle	heart
41	chr12:54576600-54582000	Weak transcription	Colonic Mucosa	Colon
42	chr12:54576800-54579800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:54576800-54581600	Weak transcription	Fetal Lung	lung
44	chr12:54577000-54581600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:54577200-54581600	Weak transcription	NHLF	lung
46	chr12:54577200-54581800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:54577200-54582200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:54577400-54579600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:54577400-54580600	Weak transcription	Ovary	ovary
50	chr12:54577400-54581600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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