Variant report

Variant	rs73112143
Chromosome Location	chr12:49691250-49691251
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49689988..49692308-chr12:49713640..49717456,5	K562	blood:
2	chr12:49686580..49692358-chr12:49712251..49718367,13	MCF-7	breast:
3	chr12:49524142..49526154-chr12:49690463..49692891,2	MCF-7	breast:
4	chr12:49656941..49662685-chr12:49687034..49693573,13	MCF-7	breast:
5	chr12:49685493..49694205-chr12:49728829..49734805,16	K562	blood:
6	chr12:49664091..49667882-chr12:49690109..49694759,4	K562	blood:
7	chr12:49666275..49670972-chr12:49688443..49691988,7	K562	blood:
8	chr12:49680691..49694205-chr12:49725987..49738512,25	K562	blood:
9	chr12:49689191..49691482-chr12:49728607..49731292,2	MCF-7	breast:
10	chr12:49691061..49691606-chr12:49735920..49736671,2	K562	blood:
11	chr12:49689044..49692243-chr12:49760659..49764012,4	MCF-7	breast:
12	chr12:49656956..49663896-chr12:49681239..49693031,16	K562	blood:
13	chr12:49657190..49661099-chr12:49688432..49694179,9	K562	blood:
14	chr12:49654800..49660850-chr12:49685742..49692441,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123416	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000135451	Chromatin interaction
ENSG00000258334	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000186897	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000123352	Chromatin interaction
ENSG00000258232	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10400435	0.85[ASN][1000 genomes]
rs10400567	0.85[ASN][1000 genomes]
rs11168967	0.81[AMR][1000 genomes]
rs11168973	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168974	0.92[ASN][1000 genomes]
rs11168975	0.92[ASN][1000 genomes]
rs11503617	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11835037	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11835303	0.89[ASN][1000 genomes]
rs12301545	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12313488	0.96[ASN][1000 genomes]
rs12315095	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12315130	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12317532	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12322335	0.85[AMR][1000 genomes]
rs12322783	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12580931	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822293	0.85[ASN][1000 genomes]
rs2070760	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236746	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28493849	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28543370	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28691217	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28798494	0.82[EUR][1000 genomes]
rs28823960	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28857010	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3088008	0.89[ASN][1000 genomes]
rs4243545	0.89[ASN][1000 genomes]
rs4898504	0.96[ASN][1000 genomes]
rs4898515	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4898516	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4898519	0.92[ASN][1000 genomes]
rs57241318	0.92[ASN][1000 genomes]
rs59575791	0.89[ASN][1000 genomes]
rs61023481	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67236923	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67309388	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68030039	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7136538	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7136945	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7294873	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7295247	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73309977	0.89[ASN][1000 genomes]
rs7342318	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7342370	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7342384	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7488343	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv558834	chr12:49676010-49691567	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv826367	chr12:49686493-49691709	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49686600-49692000	Bivalent Enhancer	Placenta	Placenta
2	chr12:49687800-49692000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr12:49688200-49691400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
4	chr12:49688600-49691800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr12:49689200-49691400	Bivalent Enhancer	Liver	Liver
6	chr12:49689600-49692600	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr12:49689800-49691800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:49690200-49691400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:49690200-49691400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
10	chr12:49690200-49691400	Bivalent Enhancer	Fetal Brain Male	brain
11	chr12:49690200-49691600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:49690200-49692000	Bivalent Enhancer	Fetal Thymus	thymus
13	chr12:49690400-49691400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
14	chr12:49690400-49691400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
15	chr12:49690400-49691400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:49690400-49691400	Enhancers	Lung	lung
17	chr12:49690400-49691400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
18	chr12:49690400-49691600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr12:49690400-49691600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr12:49690400-49691600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:49690400-49691600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr12:49690400-49691800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:49690600-49691400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:49690600-49691400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:49690600-49691400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
26	chr12:49690600-49691400	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:49690600-49691400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:49690600-49691400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
29	chr12:49690600-49691400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:49690600-49691400	Bivalent/Poised TSS	Fetal Brain Female	brain
31	chr12:49690600-49691400	Flanking Active TSS	Ovary	ovary
32	chr12:49690600-49691400	Flanking Active TSS	Right Ventricle	heart
33	chr12:49690600-49691400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
34	chr12:49690600-49691400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr12:49690600-49691600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr12:49690600-49691600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:49690600-49691600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:49690600-49691600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr12:49690600-49691600	Bivalent Enhancer	Small Intestine	intestine
40	chr12:49690600-49691800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
41	chr12:49690600-49691800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr12:49690800-49691400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
43	chr12:49690800-49691400	Bivalent Enhancer	Colon Smooth Muscle	Colon
44	chr12:49690800-49691400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
45	chr12:49690800-49691800	Enhancers	Spleen	Spleen
46	chr12:49690800-49692000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:49690800-49692000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr12:49690800-49692000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
49	chr12:49691000-49691400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:49691000-49691400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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