Variant report

Variant	rs73319644
Chromosome Location	chr12:65011498-65011499
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr12:65011490-65011976	HUVEC	blood vessel:	n/a	chr12:65011678-65011688
2	POLR2A	chr12:65011495-65011988	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:65011485-65011778	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:65011047..65013425-chr12:65022632..65024706,2	MCF-7	breast:
2	chr12:65011462..65014885-chr12:65017332..65020916,6	MCF-7	breast:
3	chr12:65010556..65012937-chr12:65017376..65021348,4	K562	blood:
4	chr12:64960849..64962963-chr12:65011488..65013311,2	K562	blood:

Variant related genes	Relation type
MIR548C	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11175467	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175469	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299132	1.00[ASN][1000 genomes]
rs12315116	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12828124	1.00[ASN][1000 genomes]
rs34100626	1.00[ASN][1000 genomes]
rs56379182	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58306163	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58562693	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59517579	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61730726	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1048199	chr12:64951666-65021700	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv541512	chr12:64951666-65021700	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65005800-65015200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:65005800-65017800	Weak transcription	Gastric	stomach
3	chr12:65006000-65012800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:65006200-65013000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:65006200-65017400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:65006200-65017600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:65006200-65018800	Weak transcription	Fetal Thymus	thymus
8	chr12:65006200-65019000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:65006200-65019000	Weak transcription	NHEK	skin
10	chr12:65006200-65019400	Weak transcription	Psoas Muscle	Psoas
11	chr12:65006400-65017000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:65006600-65012000	Weak transcription	Placenta	Placenta
13	chr12:65006600-65012200	Weak transcription	Pancreas	Pancrea
14	chr12:65006600-65012800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:65006600-65012800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:65006600-65012800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:65006600-65012800	Weak transcription	Right Atrium	heart
18	chr12:65006600-65017400	Weak transcription	Small Intestine	intestine
19	chr12:65006600-65018200	Weak transcription	Fetal Intestine Large	intestine
20	chr12:65006800-65013000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:65006800-65031800	Weak transcription	Dnd41	blood
22	chr12:65007000-65014800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:65007000-65018800	Weak transcription	HMEC	breast
24	chr12:65007000-65019200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:65007200-65012400	Weak transcription	Hela-S3	cervix
26	chr12:65007200-65013000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr12:65007200-65015000	Weak transcription	HepG2	liver
28	chr12:65007200-65017600	Weak transcription	Stomach Mucosa	stomach
29	chr12:65007400-65011600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr12:65007600-65012400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr12:65007600-65012800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:65007800-65011800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:65007800-65017600	Weak transcription	Lung	lung
34	chr12:65008000-65011600	Genic enhancers	Monocytes-CD14+_RO01746	blood
35	chr12:65008200-65011600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:65008600-65019000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:65008800-65012000	Weak transcription	Fetal Intestine Small	intestine
38	chr12:65009000-65012200	Genic enhancers	Primary B cells from cord blood	blood
39	chr12:65009000-65012800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:65009000-65013200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr12:65009200-65011600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:65009200-65012000	Weak transcription	K562	blood
43	chr12:65009200-65019200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:65009600-65012000	Enhancers	Adipose Nuclei	Adipose
45	chr12:65009800-65013200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr12:65009800-65019200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:65009800-65019400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:65010000-65023200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:65010200-65019400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:65010400-65011600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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