Variant report

Variant	rs28384455
Chromosome Location	chr2:37571237-37571238
allele	C/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	TCF7L2	chr2:37570990-37571320	HepG2	liver:	n/a	chr2:37571091-37571107 chr2:37571092-37571106 chr2:37571095-37571104 chr2:37571095-37571105 chr2:37571091-37571107
2	FOXA1	chr2:37570490-37571310	HepG2	liver:	n/a	n/a
3	TCF12	chr2:37571111-37572519	A549	lung:	n/a	n/a
4	CTCF	chr2:37570370-37571499	A549	lung:	n/a	n/a
5	FOXA1	chr2:37570462-37571307	HepG2	liver:	n/a	n/a
6	MYBL2	chr2:37570836-37571491	HepG2	liver:	n/a	n/a
7	FOXA1	chr2:37570574-37571283	HepG2	liver:	n/a	n/a
8	KAP1	chr2:37570639-37572242	HEK293	kidney:	n/a	chr2:37570950-37570959
9	FOXA2	chr2:37570939-37571261	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37558808..37561496-chr2:37570984..37573398,2	MCF-7	breast:

Variant related genes	Relation type
QPCT	TF binding region
ENSG00000207364	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12468307	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12469082	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12472984	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13027919	0.86[ASN][1000 genomes]
rs2241163	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2255991	0.82[ASN][1000 genomes]
rs2268988	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2300883	0.89[AMR][1000 genomes]
rs2300891	0.85[AMR][1000 genomes]
rs3755191	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3755192	0.98[ASN][1000 genomes]
rs3815555	0.80[ASN][1000 genomes]
rs4610034	0.98[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4670196	0.82[EUR][1000 genomes]
rs57861177	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60981509	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73927424	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7593932	0.87[ASN][1000 genomes]
rs952711	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs952712	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37568000-37571600	Weak transcription	Ovary	ovary
2	chr2:37569400-37571400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:37569800-37571400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:37569800-37571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:37569800-37571400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:37569800-37571600	Enhancers	Left Ventricle	heart
7	chr2:37570000-37571400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:37570000-37571400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr2:37570000-37571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:37570000-37571400	Enhancers	HUVEC	blood vessel
11	chr2:37570000-37571400	Enhancers	NH-A	brain
12	chr2:37570200-37571400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:37570200-37571400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:37570200-37571400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:37570200-37571600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:37570200-37571600	Weak transcription	Spleen	Spleen
17	chr2:37570400-37571400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:37570400-37571400	Enhancers	Osteobl	bone
19	chr2:37570400-37571600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:37570400-37571600	Enhancers	HMEC	breast
21	chr2:37570600-37571400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:37570600-37571400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:37570600-37571400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:37570600-37571400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:37570600-37571400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:37570600-37571400	Enhancers	NHEK	skin
27	chr2:37570600-37571600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:37570600-37571600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr2:37570600-37571800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:37570800-37571400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:37570800-37571400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:37570800-37571400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:37570800-37571400	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:37570800-37571400	Enhancers	Brain Hippocampus Middle	brain
35	chr2:37570800-37571400	Enhancers	Colonic Mucosa	Colon
36	chr2:37570800-37571400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr2:37570800-37571400	Enhancers	Rectal Smooth Muscle	rectum
38	chr2:37570800-37571400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr2:37570800-37571400	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:37570800-37571400	Enhancers	NHDF-Ad	bronchial
41	chr2:37570800-37571400	Enhancers	NHLF	lung
42	chr2:37570800-37571600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:37570800-37571600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:37570800-37571600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:37570800-37571600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:37570800-37571600	Enhancers	Liver	Liver
47	chr2:37570800-37571600	Bivalent Enhancer	Fetal Thymus	thymus
48	chr2:37570800-37571600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr2:37570800-37571600	Enhancers	Small Intestine	intestine
50	chr2:37570800-37571600	Bivalent Enhancer	Stomach Mucosa	stomach

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