Variant report

Variant	rs57195740
Chromosome Location	chr12:122128195-122128196
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:1)
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	chr12:122127725..122130645-chr12:122248269..122249908,2	MCF-7	breast:
2	chr12:122124453..122127425-chr12:122127713..122130672,3	K562	blood:
3	chr12:122123146..122128451-chr12:122240721..122245772,6	MCF-7	breast:
4	chr12:122064685..122067395-chr12:122126741..122128662,2	K562	blood:
5	chr12:122123715..122126577-chr12:122127730..122130596,2	K562	blood:
6	chr12:122127208..122129378-chr12:122132253..122133825,2	MCF-7	breast:
7	chr12:122125119..122128228-chr12:122229957..122233821,5	MCF-7	breast:
8	chr12:122127171..122128973-chr12:122208402..122210704,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM120B-2	chr12:122128146-122128265	NONHSAT031436

No data

Variant related genes	Relation type
ENSG00000182500	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs35343615	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4760119	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760120	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760122	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760124	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55692746	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55699326	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55911302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56166919	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56790499	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57099146	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58648683	1.00[EUR][1000 genomes]
rs59143714	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59976026	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60637634	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73227927	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73227935	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73227941	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227943	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227944	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227945	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227946	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227949	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227954	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397580	0.83[EUR][1000 genomes]
rs7486943	1.00[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	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
2	chr12:122124600-122129000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:122125200-122129000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:122125400-122128800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:122125400-122128800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:122125400-122128800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:122125400-122128800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:122125400-122129000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:122125400-122129000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:122125400-122129000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:122125400-122129000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:122125400-122129000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:122125400-122129000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:122125400-122129000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:122125400-122129000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:122125400-122129000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:122125400-122129000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:122125400-122129000	Weak transcription	Fetal Brain Female	brain
19	chr12:122125400-122129000	Weak transcription	Pancreas	Pancrea
20	chr12:122125400-122129000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:122125400-122129000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:122125400-122129000	Weak transcription	A549	lung
23	chr12:122125400-122129000	Weak transcription	GM12878-XiMat	blood
24	chr12:122125400-122129000	Enhancers	HepG2	liver
25	chr12:122125400-122129000	Weak transcription	HSMMtube	muscle
26	chr12:122125400-122129000	Weak transcription	NH-A	brain
27	chr12:122125400-122129000	Weak transcription	Osteobl	bone
28	chr12:122125400-122135200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:122125400-122137600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:122125400-122139200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:122125600-122128800	Weak transcription	Hela-S3	cervix
32	chr12:122125600-122135200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:122125800-122128600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:122126000-122128600	Weak transcription	K562	blood
35	chr12:122128000-122129000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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