Variant report

Variant	rs998727
Chromosome Location	chr12:121149064-121149065
allele	G/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 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	chr12:121133471..121136112-chr12:121146959..121149468,2	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	chr12:121122969..121126872-chr12:121145365..121151601,10	K562	blood:
8	chr12:121122617..121126013-chr12:121146742..121149972,4	MCF-7	breast:
9	chr12:121123292..121126341-chr12:121146632..121149740,5	MCF-7	breast:

No data

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

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10431384	0.93[ASN][1000 genomes]
rs10431385	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10431386	0.93[ASN][1000 genomes]
rs11065223	0.81[EUR][1000 genomes]
rs17847	0.81[EUR][1000 genomes]
rs2005455	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2239760	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2393778	0.93[ASN][1000 genomes]
rs2948149	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3021338	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34734847	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35360964	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3752531	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs548093	0.84[EUR][1000 genomes]
rs556001	0.84[EUR][1000 genomes]
rs55730005	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56273049	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6490300	0.83[EUR][1000 genomes]
rs658521	0.82[EUR][1000 genomes]
rs695948	0.84[EUR][1000 genomes]
rs695949	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs696337	0.83[EUR][1000 genomes]
rs7976497	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3330833	chr12:121148056-121149683	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121147600-121149400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:121147800-121149200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:121147800-121149200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:121147800-121149200	Active TSS	Osteobl	bone
5	chr12:121147800-121149400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:121147800-121149600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:121147800-121149600	Active TSS	Fetal Kidney	kidney
8	chr12:121147800-121149600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:121148000-121149200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:121148000-121149200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:121148000-121149200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr12:121148000-121149200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:121148000-121149200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:121148000-121149200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:121148000-121149200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:121148000-121149200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:121148000-121149200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:121148000-121149200	Active TSS	Brain Anterior Caudate	brain
19	chr12:121148000-121149200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr12:121148000-121149200	Active TSS	Esophagus	oesophagus
21	chr12:121148000-121149200	Active TSS	Fetal Intestine Small	intestine
22	chr12:121148000-121149200	Active TSS	Fetal Lung	lung
23	chr12:121148000-121149200	Active TSS	Fetal Stomach	stomach
24	chr12:121148000-121149200	Active TSS	Gastric	stomach
25	chr12:121148000-121149200	Active TSS	Left Ventricle	heart
26	chr12:121148000-121149200	Active TSS	Lung	lung
27	chr12:121148000-121149200	Active TSS	Pancreas	Pancrea
28	chr12:121148000-121149200	Active TSS	Placenta Amnion	Placenta Amnion
29	chr12:121148000-121149200	Active TSS	Right Atrium	heart
30	chr12:121148000-121149200	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr12:121148000-121149200	Active TSS	GM12878-XiMat	blood
32	chr12:121148000-121149200	Active TSS	Hela-S3	cervix
33	chr12:121148000-121149200	Active TSS	HSMM	muscle
34	chr12:121148000-121149200	Active TSS	K562	blood
35	chr12:121148000-121149200	Active TSS	NHDF-Ad	bronchial
36	chr12:121148000-121149200	Active TSS	NHEK	skin
37	chr12:121148000-121149200	Active TSS	NHLF	lung
38	chr12:121148000-121149400	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr12:121148000-121149400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:121148000-121149400	Active TSS	Fetal Intestine Large	intestine
41	chr12:121148000-121149400	Active TSS	Ovary	ovary
42	chr12:121148000-121149400	Active TSS	Psoas Muscle	Psoas
43	chr12:121148000-121149400	Active TSS	Small Intestine	intestine
44	chr12:121148000-121149600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:121148000-121149800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr12:121148000-121149800	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr12:121148000-121150000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:121148000-121150000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:121148200-121149200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:121148400-121149200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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