Variant report

Variant	rs73315987
Chromosome Location	chr12:66502326-66502327
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	chr12:66501889..66503697-chr12:66505453..66507197,2	K562	blood:
2	chr12:66501520..66504935-chr12:66522647..66526244,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139233	Chromatin interaction
ENSG00000239335	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58117458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58801573	1.00[AMR][1000 genomes]
rs61293788	1.00[AMR][1000 genomes]
rs7311517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314145	1.00[AMR][1000 genomes]
rs73314150	1.00[AMR][1000 genomes]
rs73314153	1.00[AMR][1000 genomes]
rs73314160	1.00[AMR][1000 genomes]
rs73317705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73321649	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking 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 miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66500600-66503800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:66501000-66502400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:66501000-66502400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:66501000-66502400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:66501000-66502600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:66501000-66502600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:66501000-66503000	Enhancers	Fetal Brain Male	brain
8	chr12:66501000-66503400	Enhancers	NHDF-Ad	bronchial
9	chr12:66501200-66502600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:66501200-66505400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:66501200-66516000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:66501400-66502600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:66501400-66502800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr12:66501400-66514600	Weak transcription	A549	lung
15	chr12:66501400-66515400	Weak transcription	Liver	Liver
16	chr12:66501600-66502800	Enhancers	Fetal Brain Female	brain
17	chr12:66501600-66505200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:66501600-66505400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:66501600-66512200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:66501600-66513000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:66501600-66513200	Weak transcription	Brain Anterior Caudate	brain
22	chr12:66501600-66513200	Weak transcription	HSMM	muscle
23	chr12:66501600-66513600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:66501600-66513800	Weak transcription	Adipose Nuclei	Adipose
25	chr12:66501600-66514600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:66501600-66514600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:66501600-66514600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:66501600-66516000	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:66501600-66517600	Weak transcription	Right Ventricle	heart
30	chr12:66501800-66502400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr12:66501800-66512400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr12:66501800-66516800	Weak transcription	NHEK	skin
33	chr12:66502000-66505200	Weak transcription	Osteobl	bone
34	chr12:66502000-66508800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:66502000-66513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:66502000-66518000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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