Variant report

Variant	rs6708545
Chromosome Location	chr2:36581467-36581468
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	POLR2A	chr2:36581141-36581516	MCF10A-Er-Src	breast:	n/a	n/a
2	CHD1	chr2:36581051-36590233	IMR90	lung:	n/a	chr2:36584898-36584908
3	MXI1	chr2:36581371-36586962	IMR90	lung:	n/a	chr2:36583794-36583803
4	POLR2A	chr2:36581428-36586725	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr2:36581093-36581525	PANC-1	pancreas:	n/a	n/a
6	GATA3	chr2:36581389-36586752	A549	lung:	n/a	chr2:36584490-36584497 chr2:36585752-36585763

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

Variant related genes	Relation type
CRIM1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10167098	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10221948	0.81[ASN][1000 genomes]
rs2113631	0.88[EUR][1000 genomes]
rs2113632	0.90[EUR][1000 genomes]
rs2161904	0.90[EUR][1000 genomes]
rs2888338	0.89[EUR][1000 genomes]
rs3770947	0.81[EUR][1000 genomes]
rs3770955	0.83[EUR][1000 genomes]
rs3770963	0.90[EUR][1000 genomes]
rs4670548	0.87[EUR][1000 genomes]
rs6721505	0.90[EUR][1000 genomes]
rs6728742	0.87[EUR][1000 genomes]
rs888076	0.80[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	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36578800-36581600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:36579000-36581600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:36579000-36581600	Enhancers	Adipose Nuclei	Adipose
4	chr2:36579000-36581600	Enhancers	Hela-S3	cervix
5	chr2:36579000-36581800	Enhancers	Fetal Heart	heart
6	chr2:36579000-36582000	Enhancers	Stomach Mucosa	stomach
7	chr2:36579200-36582000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:36579600-36581600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:36579600-36581600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:36579600-36581600	Enhancers	Brain Substantia Nigra	brain
11	chr2:36579600-36581600	Enhancers	Fetal Kidney	kidney
12	chr2:36579600-36582000	Enhancers	Primary B cells from cord blood	blood
13	chr2:36579800-36581600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:36579800-36582400	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:36580000-36581600	Enhancers	NHEK	skin
16	chr2:36580200-36581600	Enhancers	Brain Hippocampus Middle	brain
17	chr2:36580400-36581800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:36580400-36582000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:36580400-36582000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:36580600-36581600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:36580600-36581600	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:36580600-36581800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:36580800-36582200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:36581000-36582000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:36581000-36582000	Flanking Active TSS	A549	lung
26	chr2:36581000-36582200	Flanking Active TSS	HUVEC	blood vessel
27	chr2:36581200-36582000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:36581200-36582000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr2:36581200-36582000	Flanking Active TSS	NHDF-Ad	bronchial
30	chr2:36581200-36582200	Flanking Active TSS	HMEC	breast
31	chr2:36581200-36582200	Flanking Active TSS	Osteobl	bone
32	chr2:36581200-36586400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:36581400-36581600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr2:36581400-36581600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr2:36581400-36581600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
36	chr2:36581400-36581600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr2:36581400-36581600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr2:36581400-36581600	Enhancers	Fetal Brain Male	brain
39	chr2:36581400-36581600	Active TSS	Stomach Smooth Muscle	stomach
40	chr2:36581400-36581600	Enhancers	HSMM	muscle
41	chr2:36581400-36581600	Active TSS	HSMMtube	muscle
42	chr2:36581400-36581800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:36581400-36581800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:36581400-36581800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:36581400-36581800	Active TSS	Brain Angular Gyrus	brain
46	chr2:36581400-36581800	Flanking Active TSS	Placenta	Placenta
47	chr2:36581400-36581800	Flanking Active TSS	NHLF	lung
48	chr2:36581400-36582000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:36581400-36582000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:36581400-36582000	Flanking Active TSS	Brain Cingulate Gyrus	brain

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