Variant report

Variant	rs28384349
Chromosome Location	chr12:122498002-122498003
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122491216..122493323-chr12:122496696..122498393,2	K562	blood:
2	chr12:122496130..122500092-chr12:122599945..122602978,3	K562	blood:
3	chr12:122496582..122498514-chr12:122515494..122517625,2	MCF-7	breast:
4	chr12:122230875..122233088-chr12:122497334..122499947,2	K562	blood:
5	chr12:122497140..122499056-chr12:122581496..122584026,2	MCF-7	breast:
6	chr12:122491823..122494895-chr12:122496656..122499239,3	K562	blood:

Variant related genes	Relation type
ENSG00000139725	Chromatin interaction
ENSG00000175727	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11043307	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11057403	0.84[EUR][1000 genomes]
rs12299752	0.85[EUR][1000 genomes]
rs12314700	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1916334	0.84[EUR][1000 genomes]
rs28478029	0.84[EUR][1000 genomes]
rs28622891	0.83[EUR][1000 genomes]
rs28643366	0.93[EUR][1000 genomes]
rs28707600	0.85[EUR][1000 genomes]
rs4132932	0.84[EUR][1000 genomes]
rs4132933	0.84[EUR][1000 genomes]
rs73217773	0.85[EUR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122462400-122500000	Weak transcription	Hela-S3	cervix
2	chr12:122466200-122500800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr12:122467800-122500000	Strong transcription	Thymus	Thymus
4	chr12:122467800-122500200	Strong transcription	Dnd41	blood
5	chr12:122472000-122507200	Weak transcription	Fetal Brain Male	brain
6	chr12:122474400-122500600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:122475200-122501400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:122479400-122500600	Weak transcription	Small Intestine	intestine
9	chr12:122483600-122500200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:122488000-122500600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:122489600-122499800	Weak transcription	HUVEC	blood vessel
12	chr12:122491200-122500000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:122491800-122501000	Strong transcription	Fetal Brain Female	brain
14	chr12:122492400-122499400	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:122492400-122500200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:122492400-122500400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:122492600-122498800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:122492600-122499200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:122492600-122499800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:122492600-122500000	Strong transcription	NHEK	skin
21	chr12:122492600-122500200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:122492600-122500200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:122492600-122500400	Strong transcription	Primary T cells from cord blood	blood
24	chr12:122492600-122500600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:122492600-122500600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:122492600-122505600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:122492800-122498400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:122492800-122498400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr12:122492800-122498800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:122492800-122498800	Strong transcription	Brain Anterior Caudate	brain
31	chr12:122492800-122499600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:122492800-122499800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:122492800-122499800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:122492800-122499800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:122492800-122500000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:122492800-122500200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr12:122492800-122500200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:122492800-122500400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:122492800-122500400	Strong transcription	Fetal Thymus	thymus
40	chr12:122492800-122500600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:122492800-122500800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr12:122492800-122501000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:122492800-122501600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr12:122493000-122498200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:122493000-122498200	Strong transcription	Primary B cells from cord blood	blood
46	chr12:122493000-122498400	Strong transcription	Lung	lung
47	chr12:122493000-122499200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr12:122493000-122499600	Strong transcription	Aorta	Aorta
49	chr12:122493000-122500000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:122493000-122500000	Weak transcription	Stomach Mucosa	stomach

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