Variant report

Variant	rs73267972
Chromosome Location	chr12:10903214-10903215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:10872352..10877950-chr12:10900438..10904327,7	K562	blood:
2	chr12:10873685..10876806-chr12:10901229..10904377,4	K562	blood:
3	chr12:10760237..10760868-chr12:10902891..10903444,2	K562	blood:
4	chr12:10870598..10876467-chr12:10900594..10904029,6	MCF-7	breast:
5	chr12:10876078..10877207-chr12:10902879..10903524,3	K562	blood:
6	chr12:10765868..10766555-chr12:10902891..10903421,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111196	Chromatin interaction
ENSG00000060138	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11053921	1.00[EUR][1000 genomes]
rs11053922	1.00[EUR][1000 genomes]
rs11053929	1.00[EUR][1000 genomes]
rs12300797	1.00[EUR][1000 genomes]
rs12302178	1.00[EUR][1000 genomes]
rs28470343	1.00[EUR][1000 genomes]
rs28858471	1.00[EUR][1000 genomes]
rs7301725	1.00[EUR][1000 genomes]
rs7314768	1.00[EUR][1000 genomes]
rs9668523	1.00[EUR][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	nsv1049362	chr12:10893573-11018850	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10902400-10903400	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:10902800-10903400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:10902800-10903400	Enhancers	Liver	Liver
4	chr12:10902800-10903400	Active TSS	Placenta Amnion	Placenta Amnion
5	chr12:10902800-10903400	Enhancers	HUVEC	blood vessel
6	chr12:10902800-10903600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:10902800-10903600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:10902800-10905600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:10902800-10905600	Weak transcription	HMEC	breast
10	chr12:10903000-10903400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:10903000-10903400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:10903000-10903400	Enhancers	Dnd41	blood
13	chr12:10903000-10905600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:10903200-10903400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:10903200-10903400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:10903200-10903400	Enhancers	Brain Substantia Nigra	brain
17	chr12:10903200-10903400	Enhancers	NHDF-Ad	bronchial
18	chr12:10903200-10903600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:10903200-10905400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:10903200-10905400	Weak transcription	Fetal Kidney	kidney
21	chr12:10903200-10905600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:10903200-10905600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:10903200-10905600	Weak transcription	Psoas Muscle	Psoas
24	chr12:10903200-10905600	Weak transcription	HSMM	muscle
25	chr12:10903200-10905600	Weak transcription	NHEK	skin
26	chr12:10903200-10908400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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