Variant report

Variant	rs4670544
Chromosome Location	chr2:36580631-36580632
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	SPI1	chr2:36580319-36580717	GM12891	blood:	n/a	n/a
2	CEBPB	chr2:36580425-36581008	A549	lung:	n/a	n/a
3	REST	chr2:36580416-36580649	Hela-S3	cervix:	n/a	n/a
4	SPI1	chr2:36580349-36580641	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:36580529-36580675	MCF10A-Er-Src	breast:	n/a	n/a
6	USF2	chr2:36580404-36580677	GM12878	blood:	n/a	n/a
7	TCF7L2	chr2:36580417-36580772	PANC-1	pancreas:	n/a	n/a
8	TCF12	chr2:36579088-36580884	SK-N-SH	brain:	n/a	n/a
9	RUNX3	chr2:36580237-36580743	GM12878	blood:	n/a	n/a
10	RUNX3	chr2:36580266-36580719	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:36580407-36580826	PANC-1	pancreas:	n/a	n/a
12	SMC3	chr2:36578845-36580736	SK-N-SH	brain:	n/a	n/a
13	SPI1	chr2:36580268-36580748	GM12891	blood:	n/a	n/a
14	CEBPB	chr2:36580627-36580891	A549	lung:	n/a	n/a
15	CEBPB	chr2:36580538-36580941	HepG2	liver:	n/a	n/a
16	CTCF	chr2:36578396-36580736	A549	lung:	n/a	chr2:36579350-36579368 chr2:36580549-36580557 chr2:36579351-36579367 chr2:36579352-36579373
17	POLR2A	chr2:36579794-36580742	PANC-1	pancreas:	n/a	n/a
18	SPI1	chr2:36580152-36580955	GM12878	blood:	n/a	n/a
19	GATA3	chr2:36579637-36580803	SK-N-SH	brain:	n/a	chr2:36579946-36579953 chr2:36579944-36579954 chr2:36579946-36579953 chr2:36579935-36579952 chr2:36580565-36580574 chr2:36579747-36579757 chr2:36579946-36579953 chr2:36579939-36579960

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36579541..36582234-chr2:36891147..36893577,3	MCF-7	breast:
2	chr2:36579431..36580979-chr2:36581786..36583464,2	MCF-7	breast:

Variant related genes	Relation type
CRIM1	TF binding region
ENSG00000150938	Chromatin interaction
ENSG00000260025	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12623633	1.00[JPT][hapmap]
rs13389698	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13392090	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13399173	1.00[JPT][hapmap]
rs13405945	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13419520	1.00[JPT][hapmap]
rs17018693	1.00[JPT][hapmap]
rs2270329	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3755210	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3755215	1.00[JPT][hapmap]
rs3770944	1.00[JPT][hapmap]
rs3770950	0.83[ASN][1000 genomes]
rs3770953	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3821161	1.00[JPT][hapmap]
rs6726672	1.00[JPT][hapmap]
rs6754446	0.86[CHB][hapmap]

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	esv2757792	chr2:36243452-36590658	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2759040	chr2:36243452-36590658	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36577200-36580800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr2:36578000-36581200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:36578200-36581200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:36578200-36581200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:36578400-36581200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:36578600-36581000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr2:36578800-36581200	Enhancers	HMEC	breast
8	chr2:36578800-36581400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:36578800-36581400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:36578800-36581400	Enhancers	NHLF	lung
11	chr2:36578800-36581600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:36579000-36581600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:36579000-36581600	Enhancers	Adipose Nuclei	Adipose
14	chr2:36579000-36581600	Enhancers	Hela-S3	cervix
15	chr2:36579000-36581800	Enhancers	Fetal Heart	heart
16	chr2:36579000-36582000	Enhancers	Stomach Mucosa	stomach
17	chr2:36579200-36581400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:36579200-36582000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:36579400-36581000	Enhancers	HSMM	muscle
20	chr2:36579600-36580800	Flanking Active TSS	A549	lung
21	chr2:36579600-36581200	Enhancers	NHDF-Ad	bronchial
22	chr2:36579600-36581400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:36579600-36581400	Enhancers	Brain Anterior Caudate	brain
24	chr2:36579600-36581600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:36579600-36581600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:36579600-36581600	Enhancers	Brain Substantia Nigra	brain
27	chr2:36579600-36581600	Enhancers	Fetal Kidney	kidney
28	chr2:36579600-36582000	Enhancers	Primary B cells from cord blood	blood
29	chr2:36579800-36580800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:36579800-36580800	Enhancers	GM12878-XiMat	blood
31	chr2:36579800-36580800	Flanking Active TSS	HUVEC	blood vessel
32	chr2:36579800-36581400	Enhancers	Brain Cingulate Gyrus	brain
33	chr2:36579800-36581400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:36579800-36581400	Enhancers	Placenta	Placenta
35	chr2:36579800-36581600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:36579800-36582400	Enhancers	Primary B cells from peripheral blood	blood
37	chr2:36580000-36580800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:36580000-36581200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:36580000-36581400	Enhancers	Primary hematopoietic stem cells	blood
40	chr2:36580000-36581400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:36580000-36581400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:36580000-36581600	Enhancers	NHEK	skin
43	chr2:36580200-36581400	Enhancers	HepG2	liver
44	chr2:36580200-36581600	Enhancers	Brain Hippocampus Middle	brain
45	chr2:36580400-36580800	Active TSS	Fetal Brain Male	brain
46	chr2:36580400-36580800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr2:36580400-36581200	Enhancers	Fetal Brain Female	brain
48	chr2:36580400-36581400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:36580400-36581800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:36580400-36582000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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