Variant report

Variant	rs7980777
Chromosome Location	chr12:122905504-122905505
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122905165..122906940-chr12:122983858..122986344,2	MCF-7	breast:
2	chr12:122879571..122888507-chr12:122899670..122909196,27	K562	blood:
3	chr12:122904832..122906414-chr12:122939257..122941013,2	MCF-7	breast:
4	chr12:122882564..122887396-chr12:122904302..122908331,13	MCF-7	breast:
5	chr12:122819260..122821230-chr12:122903461..122905626,2	K562	blood:
6	chr12:122904060..122906537-chr12:122948950..122950891,2	MCF-7	breast:
7	chr12:122905434..122908389-chr12:122983902..122986310,2	K562	blood:
8	chr12:122903628..122906130-chr12:122965497..122967386,2	K562	blood:
9	chr12:122877588..122886723-chr12:122904086..122910536,22	K562	blood:
10	chr12:122878851..122886809-chr12:122904517..122908613,16	MCF-7	breast:
11	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000033030	Chromatin interaction
ENSG00000257097	Chromatin interaction
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12297174	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297513	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303070	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303304	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305053	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312090	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314651	1.00[AMR][1000 genomes]
rs12319914	1.00[AMR][1000 genomes]
rs12320418	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294383	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs7311062	0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7959187	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7966324	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972719	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976580	1.00[AMR][1000 genomes]
rs7977242	0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][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	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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122885200-122906000	Weak transcription	Ovary	ovary
2	chr12:122887200-122906200	Weak transcription	Lung	lung
3	chr12:122896400-122905600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:122898200-122905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:122901800-122905800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:122903000-122905800	Enhancers	Pancreas	Pancrea
7	chr12:122903200-122905600	Enhancers	K562	blood
8	chr12:122904000-122905600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:122904400-122905600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr12:122904400-122905800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:122904400-122907600	Active TSS	HSMMtube	muscle
12	chr12:122904600-122905600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr12:122904600-122905600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:122904600-122905600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr12:122904600-122905800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:122904600-122905800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:122904600-122905800	Enhancers	Small Intestine	intestine
18	chr12:122904600-122906000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:122904800-122905600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:122904800-122905600	Enhancers	Brain Hippocampus Middle	brain
21	chr12:122904800-122905600	Enhancers	Duodenum Mucosa	Duodenum
22	chr12:122904800-122905600	Enhancers	Fetal Intestine Small	intestine
23	chr12:122904800-122905600	Flanking Active TSS	GM12878-XiMat	blood
24	chr12:122904800-122906000	Flanking Active TSS	Hela-S3	cervix
25	chr12:122904800-122906400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr12:122904800-122906400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:122905000-122905600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:122905000-122905600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:122905000-122905600	Enhancers	Primary B cells from cord blood	blood
30	chr12:122905000-122905600	Enhancers	Primary T cells from cord blood	blood
31	chr12:122905000-122905600	Enhancers	Adipose Nuclei	Adipose
32	chr12:122905000-122905600	Enhancers	Aorta	Aorta
33	chr12:122905000-122905600	Enhancers	Brain Anterior Caudate	brain
34	chr12:122905000-122905600	Enhancers	Fetal Brain Male	brain
35	chr12:122905000-122905600	Enhancers	Fetal Intestine Large	intestine
36	chr12:122905000-122905600	Enhancers	Fetal Muscle Leg	muscle
37	chr12:122905000-122905800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr12:122905000-122905800	Enhancers	Brain Substantia Nigra	brain
39	chr12:122905000-122905800	Flanking Active TSS	Placenta	Placenta
40	chr12:122905000-122905800	Enhancers	Stomach Mucosa	stomach
41	chr12:122905000-122906000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:122905000-122906000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:122905000-122906000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:122905000-122906000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:122905000-122906000	Enhancers	Primary B cells from peripheral blood	blood
46	chr12:122905000-122906000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr12:122905000-122906000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr12:122905000-122906000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:122905000-122906000	Enhancers	Spleen	Spleen
50	chr12:122905000-122906000	Flanking Active TSS	A549	lung

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