Variant report

Variant	rs57083451
Chromosome Location	chr12:104302476-104302477
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: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	chr12:104300678..104303599-chr12:104319392..104323559,4	K562	blood:
2	chr12:104300942..104303237-chr12:104305354..104306983,2	K562	blood:
3	chr12:104296301..104298365-chr12:104301480..104303104,2	K562	blood:
4	chr12:104302164..104305303-chr12:104321451..104326533,4	MCF-7	breast:
5	chr12:104299931..104303136-chr12:104307150..104309681,4	K562	blood:
6	chr12:104301059..104305002-chr12:104308299..104311769,5	K562	blood:
7	chr12:104298858..104303101-chr12:104321689..104325332,4	K562	blood:
8	chr12:104301536..104303979-chr12:104529834..104532594,2	K562	blood:
9	chr12:104296301..104297835-chr12:104301480..104303235,2	K562	blood:
10	chr12:104300652..104303185-chr12:104457889..104460360,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000214198	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10861144	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861145	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111825	0.81[ASN][1000 genomes]
rs11111829	0.81[ASN][1000 genomes]
rs11111833	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111835	1.00[ASN][1000 genomes]
rs11111837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11111838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11111839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11111842	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111844	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111849	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11111850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11830285	0.81[ASN][1000 genomes]
rs11831836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833702	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034931	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583273	0.93[ASN][1000 genomes]
rs3794246	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58929830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58943141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7315947	0.81[ASN][1000 genomes]
rs73177915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177916	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73177918	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177919	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177921	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104295800-104303000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr12:104295800-104303200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:104295800-104303800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:104299400-104303000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:104299600-104302600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:104299800-104303000	Enhancers	Fetal Thymus	thymus
7	chr12:104301000-104303600	Weak transcription	Spleen	Spleen
8	chr12:104301400-104302800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:104301400-104304200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:104301400-104304200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:104301400-104304200	Enhancers	HMEC	breast
12	chr12:104301400-104304400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:104301400-104304400	Enhancers	HSMMtube	muscle
14	chr12:104301600-104302600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:104301800-104302600	Weak transcription	NH-A	brain
16	chr12:104301800-104302800	Enhancers	GM12878-XiMat	blood
17	chr12:104302000-104303600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:104302200-104302800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:104302200-104303000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:104302200-104303000	Enhancers	Fetal Heart	heart
21	chr12:104302200-104303000	Enhancers	Placenta	Placenta
22	chr12:104302200-104303800	Enhancers	NHDF-Ad	bronchial
23	chr12:104302200-104304200	Enhancers	HSMM	muscle
24	chr12:104302200-104304200	Enhancers	Osteobl	bone
25	chr12:104302200-104304400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:104302400-104302800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:104302400-104302800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:104302400-104302800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:104302400-104303000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:104302400-104303200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:104302400-104304000	Weak transcription	Thymus	Thymus
32	chr12:104302400-104304200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:104302400-104304200	Enhancers	NHEK	skin

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