Variant report

Variant	rs73392594
Chromosome Location	chr12:104609131-104609132
allele	A/T
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	MAX	chr12:104609073-104611142	A549	lung:	n/a	chr12:104609481-104609491
2	CTCF	chr12:104609131-104609965	HCT-116	colon:	n/a	chr12:104609511-104609524 chr12:104609508-104609526
3	CHD1	chr12:104609017-104610017	IMR90	lung:	n/a	n/a
4	RAD21	chr12:104609078-104609861	IMR90	lung:	n/a	chr12:104609514-104609524 chr12:104609827-104609836
5	SIX5	chr12:104608844-104611017	A549	lung:	n/a	n/a
6	CTCF	chr12:104608875-104611081	A549	lung:	n/a	chr12:104609511-104609524 chr12:104609508-104609526
7	CTCF	chr12:104609040-104609190	HCM	heart:	n/a	n/a
8	GATA3	chr12:104608997-104611173	A549	lung:	n/a	chr12:104610806-104610814 chr12:104609404-104609414
9	TCF12	chr12:104609018-104611069	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104605545..104609502-chr12:104611890..104614832,4	MCF-7	breast:
2	chr12:104608375..104610840-chr12:104681920..104683609,3	MCF-7	breast:
3	chr12:104606650..104611349-chr12:104679680..104683932,8	K562	blood:
4	chr12:104606650..104616346-chr12:104679108..104687347,18	K562	blood:

Variant related genes	Relation type
TXNRD1	TF binding region
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10861184	0.83[AMR][1000 genomes]
rs11111974	0.83[AMR][1000 genomes]
rs11111975	0.83[AMR][1000 genomes]
rs11829922	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836627	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11837739	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838277	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299450	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12303096	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307313	0.83[AMR][1000 genomes]
rs12320661	0.92[EUR][1000 genomes]
rs17035253	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17035296	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17807362	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35861067	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57040145	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57416848	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57718153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58729796	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59185359	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59945395	0.85[EUR][1000 genomes]
rs60264625	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61690515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296260	0.86[ASN][1000 genomes]
rs73392529	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73392542	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73392580	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394503	0.94[EUR][1000 genomes]
rs73394521	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394563	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104599200-104609200	Weak transcription	Ovary	ovary
2	chr12:104602000-104609200	Weak transcription	HSMM	muscle
3	chr12:104607000-104609200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:104607800-104609200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:104607800-104609200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:104607800-104609200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:104607800-104609200	Enhancers	Osteobl	bone
8	chr12:104607800-104609400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:104607800-104609400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:104607800-104609800	Enhancers	NHDF-Ad	bronchial
11	chr12:104608200-104609200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:104608200-104609200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:104608200-104609400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:104608800-104609200	Enhancers	HUVEC	blood vessel
15	chr12:104609000-104609200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:104609000-104609200	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:104609000-104609200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr12:104609000-104609200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr12:104609000-104609200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:104609000-104609200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:104609000-104609200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:104609000-104609200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:104609000-104609200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr12:104609000-104609200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:104609000-104609200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:104609000-104609200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr12:104609000-104609200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr12:104609000-104609200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:104609000-104609200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:104609000-104609200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:104609000-104609200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:104609000-104609200	Enhancers	Colonic Mucosa	Colon
33	chr12:104609000-104609200	Enhancers	Duodenum Mucosa	Duodenum
34	chr12:104609000-104609200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr12:104609000-104609200	Flanking Active TSS	NHLF	lung
36	chr12:104609000-104609400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:104609000-104609400	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr12:104609000-104609400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:104609000-104609400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr12:104609000-104609400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:104609000-104609400	Enhancers	Fetal Kidney	kidney
42	chr12:104609000-104609400	Flanking Active TSS	A549	lung
43	chr12:104609000-104609400	Flanking Active TSS	Hela-S3	cervix
44	chr12:104609000-104609600	Enhancers	Primary monocytes fromperipheralblood	blood

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