Variant report

Variant	rs73229915
Chromosome Location	chr12:122149565-122149566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122148895..122150482-chr12:122213569..122215143,2	K562	blood:
2	chr12:122148985..122154094-chr12:122210649..122217008,11	MCF-7	breast:
3	chr12:122149249..122152147-chr12:122229581..122233327,7	MCF-7	breast:
4	chr12:122148639..122153380-chr12:122238008..122242328,5	MCF-7	breast:
5	chr12:122149069..122151072-chr12:122242291..122244324,2	MCF-7	breast:
6	chr12:122147215..122155218-chr12:122185094..122190846,22	MCF-7	breast:
7	chr12:122145450..122152863-chr12:122233897..122241914,16	MCF-7	breast:
8	chr12:122016960..122018583-chr12:122148688..122150222,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188735	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000089094	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139718	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2871131	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56331304	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60596226	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227955	0.95[EUR][1000 genomes]
rs73229914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7398276	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
2	chr12:122142600-122149800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122142800-122149800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:122146400-122149600	Enhancers	Fetal Intestine Large	intestine
5	chr12:122146400-122149800	Enhancers	Fetal Intestine Small	intestine
6	chr12:122147200-122149600	Weak transcription	Thymus	Thymus
7	chr12:122147400-122149800	Enhancers	Fetal Muscle Leg	muscle
8	chr12:122148000-122149600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:122148000-122149600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:122148000-122149600	Enhancers	Adipose Nuclei	Adipose
11	chr12:122148000-122149600	Enhancers	Liver	Liver
12	chr12:122148000-122149800	Enhancers	Fetal Muscle Trunk	muscle
13	chr12:122148000-122149800	Weak transcription	HSMMtube	muscle
14	chr12:122148200-122149600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:122148200-122149600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:122148200-122149600	Enhancers	Pancreas	Pancrea
17	chr12:122148200-122149800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:122148200-122149800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:122148200-122149800	Weak transcription	NH-A	brain
20	chr12:122148600-122149600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:122148600-122150000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:122148800-122149600	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:122148800-122149800	Enhancers	Primary B cells from cord blood	blood
24	chr12:122149000-122149600	Enhancers	Fetal Heart	heart
25	chr12:122149000-122149800	Weak transcription	GM12878-XiMat	blood
26	chr12:122149000-122150000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:122149200-122149600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:122149200-122149600	Enhancers	Colonic Mucosa	Colon
29	chr12:122149200-122149800	Enhancers	Placenta	Placenta
30	chr12:122149200-122149800	Enhancers	Fetal Thymus	thymus
31	chr12:122149200-122149800	Enhancers	Psoas Muscle	Psoas
32	chr12:122149200-122150000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:122149200-122150000	Enhancers	Spleen	Spleen
34	chr12:122149400-122149600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:122149400-122149600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:122149400-122149600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr12:122149400-122149600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr12:122149400-122149600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:122149400-122149600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr12:122149400-122149600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:122149400-122149600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr12:122149400-122149600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr12:122149400-122149600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:122149400-122149600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:122149400-122149600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:122149400-122149600	Enhancers	Brain Anterior Caudate	brain
47	chr12:122149400-122149600	Enhancers	Gastric	stomach
48	chr12:122149400-122149600	Enhancers	Left Ventricle	heart
49	chr12:122149400-122149600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr12:122149400-122149600	Enhancers	Stomach Mucosa	stomach

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