Variant report

Variant	rs1165594
Chromosome Location	chr12:104232738-104232739
allele	A/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	FOXA1	chr12:104232131-104232908	HepG2	liver:	n/a	n/a
2	FOXA1	chr12:104232089-104232873	HepG2	liver:	n/a	n/a
3	NR2F2	chr12:104232117-104232847	HepG2	liver:	n/a	n/a
4	NR2F2	chr12:104232126-104232806	HepG2	liver:	n/a	n/a
5	MYBL2	chr12:104232253-104232750	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:104232136-104233165	HepG2	liver:	n/a	n/a
7	FOXA1	chr12:104232203-104232793	HepG2	liver:	n/a	n/a
8	FOXA1	chr12:104232104-104233232	HepG2	liver:	n/a	n/a
9	SP1	chr12:104232192-104232750	HepG2	liver:	n/a	n/a
10	MYBL2	chr12:104232156-104232972	HepG2	liver:	n/a	n/a
11	NFIC	chr12:104232190-104232837	HepG2	liver:	n/a	n/a
12	HNF4G	chr12:104232183-104232773	HepG2	liver:	n/a	chr12:104232456-104232471
13	FOXA2	chr12:104231871-104233542	HepG2	liver:	n/a	n/a
14	ZNF263	chr12:104232483-104233275	HEK293-T-REx	kidney:	n/a	chr12:104233129-104233150
15	MBD4	chr12:104232230-104232815	HepG2	liver:	n/a	n/a
16	TEAD4	chr12:104232122-104232838	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104219162..104221997-chr12:104232338..104234895,2	K562	blood:
2	chr12:104226069..104228785-chr12:104231042..104233623,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257327	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1165592	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2255887	0.84[AFR][1000 genomes]
rs2576969	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104218400-104233000	Weak transcription	Gastric	stomach
2	chr12:104218400-104233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:104218800-104232800	Weak transcription	Psoas Muscle	Psoas
4	chr12:104223200-104233000	Weak transcription	HSMMtube	muscle
5	chr12:104225000-104233600	Weak transcription	Primary T cells from cord blood	blood
6	chr12:104225200-104233200	Weak transcription	Right Atrium	heart
7	chr12:104225600-104233000	Weak transcription	Placenta	Placenta
8	chr12:104226800-104233200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:104227600-104232800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:104227800-104233800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:104228000-104232800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:104228000-104232800	Weak transcription	Fetal Stomach	stomach
13	chr12:104228000-104233000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:104228000-104233000	Weak transcription	Ovary	ovary
15	chr12:104228000-104233000	Weak transcription	Pancreas	Pancrea
16	chr12:104228200-104233000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:104228200-104233400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:104228200-104233800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:104228400-104233000	Weak transcription	Osteobl	bone
20	chr12:104228400-104233200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:104228400-104233200	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:104228800-104232800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:104228800-104233000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:104228800-104233200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:104229000-104232800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:104229000-104232800	Weak transcription	HSMM	muscle
27	chr12:104229000-104233000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:104229000-104233800	Weak transcription	Esophagus	oesophagus
29	chr12:104229200-104233000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:104229200-104233800	Weak transcription	Spleen	Spleen
31	chr12:104229400-104233400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:104229400-104233600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:104230000-104232800	Weak transcription	Colonic Mucosa	Colon
34	chr12:104230200-104233200	Weak transcription	K562	blood
35	chr12:104230200-104233400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:104231000-104233000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:104231200-104233000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:104231200-104233000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:104231800-104235400	Active TSS	Stomach Smooth Muscle	stomach
40	chr12:104231800-104236000	Active TSS	Rectal Smooth Muscle	rectum
41	chr12:104232000-104232800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr12:104232000-104232800	Genic enhancers	A549	lung
43	chr12:104232000-104233000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:104232000-104233000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:104232000-104233200	Enhancers	Stomach Mucosa	stomach
46	chr12:104232000-104233400	Enhancers	Duodenum Mucosa	Duodenum
47	chr12:104232000-104233600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr12:104232000-104233800	Enhancers	Adipose Nuclei	Adipose
49	chr12:104232000-104233800	Enhancers	Fetal Intestine Large	intestine
50	chr12:104232000-104236000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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