Variant report

Variant	rs73397624
Chromosome Location	chr12:105604939-105604940
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	CEBPB	chr12:105604782-105605140	A549	lung:	n/a	chr12:105604960-105604969 chr12:105604955-105604972 chr12:105604947-105604958 chr12:105604945-105604962 chr12:105604960-105604971
2	CEBPB	chr12:105604806-105605112	HepG2	liver:	n/a	chr12:105604960-105604969 chr12:105604955-105604972 chr12:105604947-105604958 chr12:105604945-105604962 chr12:105604960-105604971
3	STAT3	chr12:105604918-105605112	MCF10A-Er-Src	breast:	n/a	chr12:105604960-105604968
4	STAT3	chr12:105604870-105605026	MCF10A-Er-Src	breast:	n/a	chr12:105604960-105604968
5	STAT3	chr12:105604822-105605062	MCF10A-Er-Src	breast:	n/a	chr12:105604960-105604968

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105586360..105589934-chr12:105601343..105605180,3	MCF-7	breast:
2	chr12:105602998..105604968-chr12:105605214..105607629,2	MCF-7	breast:

Variant related genes	Relation type
APPL2	TF binding region
ENSG00000136044	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1078420	0.88[ASN][1000 genomes]
rs1196851	0.88[ASN][1000 genomes]
rs1196869	0.94[ASN][1000 genomes]
rs1196872	0.88[ASN][1000 genomes]
rs1196873	0.94[ASN][1000 genomes]
rs12309135	0.88[ASN][1000 genomes]
rs17036781	0.88[ASN][1000 genomes]
rs1882148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2257156	0.94[ASN][1000 genomes]
rs2464175	0.94[ASN][1000 genomes]
rs3763991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57393988	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57448746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57456392	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57618699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58301361	1.00[EUR][1000 genomes]
rs58969183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59143432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59811168	1.00[EUR][1000 genomes]
rs59840770	1.00[EUR][1000 genomes]
rs59935781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59955900	1.00[EUR][1000 genomes]
rs60167837	1.00[EUR][1000 genomes]
rs60230439	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60294187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60495600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60725801	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61042175	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61336075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61437377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7294681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7297845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7304175	1.00[EUR][1000 genomes]
rs7307834	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73393833	1.00[EUR][1000 genomes]
rs73393835	1.00[EUR][1000 genomes]
rs73393837	1.00[EUR][1000 genomes]
rs73393841	1.00[EUR][1000 genomes]
rs73393842	1.00[EUR][1000 genomes]
rs73393866	1.00[EUR][1000 genomes]
rs73393869	1.00[EUR][1000 genomes]
rs73393881	1.00[EUR][1000 genomes]
rs73393882	1.00[EUR][1000 genomes]
rs73395723	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73395740	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395744	1.00[EUR][1000 genomes]
rs73395745	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73395746	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73395758	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73395770	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395771	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395772	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395783	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395785	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397684	1.00[AMR][1000 genomes]
rs73397685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399742	1.00[AMR][1000 genomes]
rs73399757	1.00[AMR][1000 genomes]
rs73399760	1.00[AMR][1000 genomes]
rs73399763	1.00[AMR][1000 genomes]
rs7959931	1.00[EUR][1000 genomes]
rs935249	0.94[ASN][1000 genomes]
rs9668528	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105546800-105625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105558800-105615200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:105571400-105617800	Weak transcription	K562	blood
4	chr12:105576400-105606000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:105577000-105607200	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:105577400-105616200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:105577800-105605400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:105577800-105605600	Strong transcription	Primary B cells from cord blood	blood
9	chr12:105577800-105607400	Strong transcription	Duodenum Mucosa	Duodenum
10	chr12:105578000-105607400	Strong transcription	Fetal Brain Female	brain
11	chr12:105578000-105623200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:105578200-105620000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr12:105579000-105605200	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:105579000-105612400	Strong transcription	Stomach Smooth Muscle	stomach
15	chr12:105580200-105613200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:105581200-105605400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr12:105581800-105605200	Strong transcription	Brain Germinal Matrix	brain
18	chr12:105583600-105605600	Strong transcription	Right Ventricle	heart
19	chr12:105584000-105627000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:105587400-105609000	Weak transcription	Fetal Brain Male	brain
21	chr12:105589200-105612200	Weak transcription	Psoas Muscle	Psoas
22	chr12:105589400-105608600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:105589400-105612400	Weak transcription	Fetal Heart	heart
24	chr12:105590200-105620000	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:105590400-105618800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr12:105591000-105619400	Strong transcription	Primary T cells from cord blood	blood
27	chr12:105594000-105605400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:105594400-105614400	Weak transcription	Small Intestine	intestine
29	chr12:105594600-105607200	Strong transcription	Fetal Intestine Large	intestine
30	chr12:105594600-105607600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:105595000-105612800	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:105595000-105618800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:105595200-105607800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:105595600-105612800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:105595800-105605800	Strong transcription	Adipose Nuclei	Adipose
36	chr12:105595800-105612000	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:105595800-105612200	Weak transcription	Right Atrium	heart
38	chr12:105595800-105616600	Strong transcription	Primary hematopoietic stem cells	blood
39	chr12:105596000-105617000	Strong transcription	Fetal Lung	lung
40	chr12:105596200-105605400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr12:105596400-105621800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:105596600-105607600	Strong transcription	Liver	Liver
43	chr12:105597200-105607800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:105599400-105612400	Strong transcription	Brain Anterior Caudate	brain
45	chr12:105599600-105605600	Strong transcription	Brain Substantia Nigra	brain
46	chr12:105599600-105605600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr12:105599600-105605600	Strong transcription	NHLF	lung
48	chr12:105599600-105606200	Strong transcription	NH-A	brain
49	chr12:105599800-105605400	Strong transcription	Brain Hippocampus Middle	brain
50	chr12:105599800-105606600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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