Variant report

Variant	rs73177918
Chromosome Location	chr12:104303172-104303173
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 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	chr12:104302164..104305303-chr12:104321451..104326533,4	MCF-7	breast:
4	chr12:104301059..104305002-chr12:104308299..104311769,5	K562	blood:
5	chr12:104301536..104303979-chr12:104529834..104532594,2	K562	blood:
6	chr12:104296301..104297835-chr12:104301480..104303235,2	K562	blood:
7	chr12:104300652..104303185-chr12:104457889..104460360,2	K562	blood:

No data

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

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10861144	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861145	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111819	0.83[AFR][1000 genomes]
rs11111820	0.83[AFR][1000 genomes]
rs11111825	0.81[ASN][1000 genomes]
rs11111829	0.81[ASN][1000 genomes]
rs11111833	1.00[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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11111838	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11111839	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11111842	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111843	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111844	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111846	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11111850	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11830285	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11831836	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833702	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034916	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034931	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583273	0.93[ASN][1000 genomes]
rs3794246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57083451	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58929830	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58943141	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295489	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7302790	0.81[AFR][1000 genomes]
rs7315947	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73177915	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73177919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177921	0.81[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104295800-104303200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr12:104295800-104303800	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr12:104301000-104303600	Weak transcription	Spleen	Spleen
4	chr12:104301400-104304200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:104301400-104304200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:104301400-104304200	Enhancers	HMEC	breast
7	chr12:104301400-104304400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:104301400-104304400	Enhancers	HSMMtube	muscle
9	chr12:104302000-104303600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:104302200-104303800	Enhancers	NHDF-Ad	bronchial
11	chr12:104302200-104304200	Enhancers	HSMM	muscle
12	chr12:104302200-104304200	Enhancers	Osteobl	bone
13	chr12:104302200-104304400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:104302400-104303200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:104302400-104304000	Weak transcription	Thymus	Thymus
16	chr12:104302400-104304200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:104302400-104304200	Enhancers	NHEK	skin
18	chr12:104302600-104303600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:104302600-104304000	Enhancers	NH-A	brain
20	chr12:104302800-104303800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:104302800-104304000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:104302800-104306000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:104303000-104303400	Flanking Active TSS	Fetal Heart	heart
24	chr12:104303000-104304000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:104303000-104304000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:104303000-104304000	Weak transcription	NHLF	lung
27	chr12:104303000-104305600	Weak transcription	Fetal Muscle Leg	muscle

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