Variant report

Variant	rs55957030
Chromosome Location	chr2:40685499-40685500
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	MAFK	chr2:40685382-40685551	HepG2	liver:	n/a	n/a
2	MAFK	chr2:40684564-40685570	Hela-S3	cervix:	n/a	chr2:40684693-40684707 chr2:40684690-40684710
3	CEBPB	chr2:40685084-40685851	Hela-S3	cervix:	n/a	n/a
4	GATA2	chr2:40685181-40686066	SH-SY5Y	brain:	n/a	chr2:40685931-40685941 chr2:40685932-40685939 chr2:40685925-40685946 chr2:40685932-40685941 chr2:40685928-40685944 chr2:40685624-40685633 chr2:40685932-40685939 chr2:40685932-40685939
5	STAT3	chr2:40685400-40685560	MCF10A-Er-Src	breast:	n/a	n/a
6	GATA3	chr2:40685477-40686142	SH-SY5Y	brain:	n/a	chr2:40685931-40685941 chr2:40685932-40685939 chr2:40685925-40685946 chr2:40685932-40685941 chr2:40685928-40685944 chr2:40685624-40685633 chr2:40685932-40685939 chr2:40685932-40685939
7	EP300	chr2:40684646-40686650	SK-N-SH	brain:	n/a	chr2:40684670-40684678 chr2:40686441-40686450
8	MAX	chr2:40685014-40685964	Hela-S3	cervix:	n/a	n/a
9	TCF7L2	chr2:40684028-40685973	Hela-S3	cervix:	n/a	n/a
10	MAFK	chr2:40685118-40685600	IMR90	lung:	n/a	n/a
11	MXI1	chr2:40685373-40687336	SK-N-SH	brain:	n/a	n/a
12	KAP1	chr2:40685231-40685967	HEK293	kidney:	n/a	n/a
13	MAFK	chr2:40685372-40685599	HepG2	liver:	n/a	n/a
14	SMC3	chr2:40684997-40685829	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40675723..40677676-chr2:40685084..40687895,2	K562	blood:

Variant related genes	Relation type
SLC8A1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11675765	0.80[EUR][1000 genomes]
rs11679340	0.83[EUR][1000 genomes]
rs11679585	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11688289	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55944949	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55983152	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56298335	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62149448	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6723559	0.93[EUR][1000 genomes]
rs6758149	0.83[EUR][1000 genomes]
rs6758867	0.93[EUR][1000 genomes]
rs7609367	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv2700	chr2:40667461-40712805	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40679800-40685600	Weak transcription	Right Ventricle	heart
2	chr2:40680000-40685600	Weak transcription	Fetal Kidney	kidney
3	chr2:40682200-40685600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:40683000-40685600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:40683200-40685600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:40683200-40686600	Weak transcription	Left Ventricle	heart
7	chr2:40684400-40685800	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:40684600-40685600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:40684600-40685600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:40684800-40685600	Enhancers	NH-A	brain
11	chr2:40684800-40686400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:40685000-40685600	Active TSS	Stomach Smooth Muscle	stomach
13	chr2:40685000-40685600	Weak transcription	NHDF-Ad	bronchial
14	chr2:40685000-40685800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:40685000-40685800	Enhancers	Psoas Muscle	Psoas
16	chr2:40685000-40685800	Flanking Active TSS	Hela-S3	cervix
17	chr2:40685000-40686000	Enhancers	Right Atrium	heart
18	chr2:40685000-40686400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:40685200-40686000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:40685200-40686800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:40685200-40697000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:40685400-40685600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:40685400-40685600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:40685400-40685600	Flanking Active TSS	HSMMtube	muscle
25	chr2:40685400-40685800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:40685400-40685800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:40685400-40685800	Flanking Active TSS	Fetal Heart	heart
28	chr2:40685400-40685800	Flanking Active TSS	HSMM	muscle
29	chr2:40685400-40685800	Flanking Active TSS	Osteobl	bone

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