Variant report

Variant	rs695949
Chromosome Location	chr12:121149736-121149737
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
2	chr12:121148056..121150871-chr12:121436598..121439075,2	MCF-7	breast:
3	chr12:121021974..121024111-chr12:121148529..121150037,2	MCF-7	breast:
4	chr12:121145921..121147941-chr12:121149529..121151514,2	MCF-7	breast:
5	chr12:121148398..121150885-chr12:121151004..121154800,4	MCF-7	breast:
6	chr12:121148319..121151196-chr12:121161623..121163655,2	K562	blood:
7	chr12:121021368..121022342-chr12:121149363..121149884,2	K562	blood:
8	chr12:121122969..121126872-chr12:121145365..121151601,10	K562	blood:
9	chr12:121122617..121126013-chr12:121146742..121149972,4	MCF-7	breast:
10	chr12:121123292..121126341-chr12:121146632..121149740,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000122971	Chromatin interaction
ENSG00000265455	Chromatin interaction
ENSG00000271769	Chromatin interaction
ENSG00000256569	Chromatin interaction
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10431385	0.84[EUR][1000 genomes]
rs10774566	0.82[EUR][1000 genomes]
rs11065223	0.94[EUR][1000 genomes]
rs17847	0.93[EUR][1000 genomes]
rs1814851	0.92[EUR][1000 genomes]
rs2005455	0.84[EUR][1000 genomes]
rs2239760	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2948149	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3021338	0.83[EUR][1000 genomes]
rs34734847	0.84[EUR][1000 genomes]
rs35360964	0.84[EUR][1000 genomes]
rs3752531	0.84[EUR][1000 genomes]
rs3829290	0.92[EUR][1000 genomes]
rs3915	0.90[EUR][1000 genomes]
rs548093	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs555404	0.92[EUR][1000 genomes]
rs556001	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55730005	0.84[EUR][1000 genomes]
rs56273049	0.84[EUR][1000 genomes]
rs575437	0.92[EUR][1000 genomes]
rs658521	0.94[EUR][1000 genomes]
rs695948	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs695952	0.92[EUR][1000 genomes]
rs696337	0.95[EUR][1000 genomes]
rs696339	0.90[EUR][1000 genomes]
rs696340	0.87[EUR][1000 genomes]
rs697854	0.90[EUR][1000 genomes]
rs708783	0.92[EUR][1000 genomes]
rs7308648	0.91[EUR][1000 genomes]
rs7312316	0.87[EUR][1000 genomes]
rs7976497	0.93[EUR][1000 genomes]
rs998727	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121148000-121149800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr12:121148000-121149800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:121148000-121150000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:121148000-121150000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:121148400-121149800	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr12:121148600-121149800	Flanking Active TSS	Right Ventricle	heart
7	chr12:121148600-121149800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr12:121148600-121150000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:121148800-121149800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr12:121148800-121149800	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr12:121148800-121149800	Flanking Active TSS	Fetal Brain Female	brain
12	chr12:121148800-121149800	Flanking Active TSS	Fetal Muscle Trunk	muscle
13	chr12:121148800-121149800	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr12:121148800-121150200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:121149000-121149800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:121149000-121149800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr12:121149000-121149800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr12:121149000-121149800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:121149000-121149800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:121149000-121149800	Flanking Active TSS	Stomach Mucosa	stomach
21	chr12:121149000-121149800	Flanking Active TSS	A549	lung
22	chr12:121149000-121149800	Flanking Active TSS	HepG2	liver
23	chr12:121149000-121150000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:121149000-121150000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:121149000-121150000	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr12:121149000-121150000	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr12:121149000-121150000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr12:121149000-121150000	Flanking Active TSS	HMEC	breast
29	chr12:121149000-121150200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:121149000-121150200	Flanking Active TSS	Dnd41	blood
31	chr12:121149000-121153600	Weak transcription	Aorta	Aorta
32	chr12:121149200-121149800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr12:121149200-121149800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr12:121149200-121149800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:121149200-121149800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:121149200-121149800	Enhancers	Primary B cells from peripheral blood	blood
37	chr12:121149200-121149800	Flanking Active TSS	K562	blood
38	chr12:121149200-121149800	Flanking Active TSS	NHEK	skin
39	chr12:121149200-121149800	Flanking Active TSS	NHLF	lung
40	chr12:121149200-121149800	Flanking Active TSS	Osteobl	bone
41	chr12:121149200-121150000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:121149200-121150000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:121149200-121150000	Flanking Active TSS	Fetal Lung	lung
44	chr12:121149200-121150000	Flanking Active TSS	Hela-S3	cervix
45	chr12:121149200-121150200	Flanking Active TSS	GM12878-XiMat	blood
46	chr12:121149400-121149800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:121149400-121149800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:121149400-121149800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:121149400-121149800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr12:121149400-121149800	Enhancers	Primary neutrophils fromperipheralblood	blood

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