Variant report

Variant	rs7978866
Chromosome Location	chr12:122125571-122125572
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122125125..122127616-chr12:122187006..122188687,2	K562	blood:
2	chr12:122125213..122127538-chr12:122150948..122152845,2	MCF-7	breast:
3	chr12:122064331..122066305-chr12:122123658..122126561,2	MCF-7	breast:
4	chr12:122115091..122119007-chr12:122123231..122126528,5	K562	blood:
5	chr12:122124453..122127425-chr12:122127713..122130672,3	K562	blood:
6	chr12:122122153..122127459-chr12:122235506..122240049,10	MCF-7	breast:
7	chr12:122125224..122127960-chr12:122132175..122134959,2	K562	blood:
8	chr12:122125187..122126836-chr12:122146753..122149407,2	MCF-7	breast:
9	chr12:121931227..121933297-chr12:122123567..122126169,2	K562	blood:
10	chr12:122123146..122128451-chr12:122240721..122245772,6	MCF-7	breast:
11	chr12:122125178..122127616-chr12:122187006..122188526,2	K562	blood:
12	chr12:122123518..122126727-chr12:122231097..122233939,3	MCF-7	breast:
13	chr12:122017543..122019584-chr12:122124847..122126466,2	K562	blood:
14	chr12:122101998..122103824-chr12:122123372..122125942,2	K562	blood:
15	chr12:122063044..122066006-chr12:122123378..122126114,2	MCF-7	breast:
16	chr12:122125009..122127418-chr12:122238463..122240400,2	K562	blood:
17	chr12:122103388..122106454-chr12:122121633..122126620,5	K562	blood:
18	chr12:122125045..122125638-chr12:122231767..122232417,2	K562	blood:
19	chr12:122123533..122126462-chr12:122235379..122238113,4	K562	blood:
20	chr12:122125017..122126600-chr12:122240555..122242407,2	MCF-7	breast:
21	chr12:122124832..122127542-chr12:122129875..122131876,2	MCF-7	breast:
22	chr12:122062918..122065816-chr12:122124530..122126213,2	K562	blood:
23	chr12:122125119..122128228-chr12:122229957..122233821,5	MCF-7	breast:
24	chr12:122123715..122126577-chr12:122127730..122130596,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000256742	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000089094	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000182500	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10743188	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10840652	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11043179	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12320939	0.84[EUR][1000 genomes]
rs1877484	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2309142	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2669163	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2669165	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2669166	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2669168	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2720021	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2720022	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2720025	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2720035	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2942368	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2942370	0.82[AMR][1000 genomes]
rs2942379	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2954116	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3825175	0.83[EUR][1000 genomes]
rs6486789	0.84[EUR][1000 genomes]
rs7297028	0.86[EUR][1000 genomes]
rs7978609	0.84[EUR][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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	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
3	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122117000-122125800	Weak transcription	K562	blood
2	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
3	chr12:122123800-122125600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:122124600-122125600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:122124600-122129000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:122124800-122125600	Active TSS	Monocytes-CD14+_RO01746	blood
7	chr12:122125000-122125600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:122125000-122125600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:122125000-122125600	Active TSS	Colonic Mucosa	Colon
10	chr12:122125000-122125600	Active TSS	Placenta	Placenta
11	chr12:122125000-122125600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr12:122125000-122125600	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr12:122125000-122125600	Active TSS	Rectal Smooth Muscle	rectum
14	chr12:122125000-122125600	Active TSS	Hela-S3	cervix
15	chr12:122125200-122125600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr12:122125200-122125600	Enhancers	Fetal Brain Male	brain
17	chr12:122125200-122129000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:122125400-122125600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:122125400-122125600	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:122125400-122125600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr12:122125400-122125600	Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr12:122125400-122125600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:122125400-122125600	Enhancers	Adipose Nuclei	Adipose
24	chr12:122125400-122125600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr12:122125400-122125600	Enhancers	Fetal Muscle Trunk	muscle
26	chr12:122125400-122125600	Enhancers	Fetal Thymus	thymus
27	chr12:122125400-122125600	Active TSS	Dnd41	blood
28	chr12:122125400-122125800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr12:122125400-122128800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:122125400-122128800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:122125400-122128800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:122125400-122128800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:122125400-122129000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:122125400-122129000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:122125400-122129000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:122125400-122129000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:122125400-122129000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:122125400-122129000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:122125400-122129000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:122125400-122129000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:122125400-122129000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:122125400-122129000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:122125400-122129000	Weak transcription	Fetal Brain Female	brain
44	chr12:122125400-122129000	Weak transcription	Pancreas	Pancrea
45	chr12:122125400-122129000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:122125400-122129000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:122125400-122129000	Weak transcription	A549	lung
48	chr12:122125400-122129000	Weak transcription	GM12878-XiMat	blood
49	chr12:122125400-122129000	Enhancers	HepG2	liver
50	chr12:122125400-122129000	Weak transcription	HSMMtube	muscle

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