Variant report

Variant	rs57977434
Chromosome Location	chr2:151908039-151908040
allele	A/C
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	RAD21	chr2:151907998-151908605	MCF-7	breast:	n/a	chr2:151908304-151908323 chr2:151908313-151908322
2	SMC3	chr2:151907999-151908918	SK-N-SH	brain:	n/a	chr2:151908308-151908322
3	GATA3	chr2:151907943-151908867	SK-N-SH	brain:	n/a	chr2:151908577-151908593
4	CBX3	chr2:151908023-151908538	HCT-116	colon:	n/a	n/a
5	GATA3	chr2:151907932-151908743	MCF-7	breast:	n/a	chr2:151908577-151908593
6	RAD21	chr2:151908009-151908577	IMR90	lung:	n/a	chr2:151908304-151908323 chr2:151908313-151908322
7	RAD21	chr2:151907981-151908665	ECC-1	luminal epithelium:	n/a	chr2:151908304-151908323 chr2:151908313-151908322
8	CTCF	chr2:151908009-151908623	SK-N-SH	brain:	n/a	chr2:151908307-151908323 chr2:151908301-151908322 chr2:151908313-151908320
9	JUN	chr2:151908019-151908348	HepG2	liver:	n/a	chr2:151908074-151908083 chr2:151908171-151908178 chr2:151908170-151908178 chr2:151908169-151908178 chr2:151908170-151908179
10	GATA3	chr2:151907942-151908901	SK-N-SH	brain:	n/a	chr2:151908577-151908593
11	RAD21	chr2:151907754-151908976	SK-N-SH	brain:	n/a	chr2:151908304-151908323 chr2:151908313-151908322
12	STAT3	chr2:151907974-151908317	MCF10A-Er-Src	breast:	n/a	chr2:151908170-151908179 chr2:151908169-151908178
13	CTCF	chr2:151908038-151908540	MCF-7	breast:	n/a	chr2:151908307-151908323 chr2:151908301-151908322 chr2:151908313-151908320
14	CTCF	chr2:151908024-151908743	A549	lung:	n/a	chr2:151908307-151908323 chr2:151908301-151908322 chr2:151908313-151908320
15	RAD21	chr2:151907997-151908639	HCT-116	colon:	n/a	chr2:151908304-151908323 chr2:151908313-151908322
16	CTCF	chr2:151907985-151908571	HCT-116	colon:	n/a	chr2:151908307-151908323 chr2:151908301-151908322 chr2:151908313-151908320
17	TCF12	chr2:151907952-151908956	SK-N-SH	brain:	n/a	n/a
18	EP300	chr2:151908007-151908351	SK-N-SH_RA	brain:	n/a	chr2:151908170-151908179 chr2:151908169-151908178
19	RAD21	chr2:151908020-151908618	HCT-116	colon:	n/a	chr2:151908304-151908323 chr2:151908313-151908322
20	RAD21	chr2:151907957-151908637	A549	lung:	n/a	chr2:151908304-151908323 chr2:151908313-151908322
21	RAD21	chr2:151907994-151908514	HepG2	liver:	n/a	chr2:151908304-151908323 chr2:151908313-151908322
22	RAD21	chr2:151908038-151908520	A549	lung:	n/a	chr2:151908304-151908323 chr2:151908313-151908322

No.	Distal block	Cell Line	Cell type
1	chr2:151768362..151769212-chr2:151907879..151908719,2	MCF-7	breast:
2	chr2:151907813..151910172-chr2:151913284..151915565,3	K562	blood:
3	chr2:151466968..151467825-chr2:151907836..151908382,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222031	TF binding region

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10178102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10189598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10202421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10469704	1.00[AMR][1000 genomes]
rs13383738	1.00[AMR][1000 genomes]
rs13401734	1.00[AMR][1000 genomes]
rs13412724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13424594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13431998	1.00[AMR][1000 genomes]
rs59237589	1.00[AMR][1000 genomes]
rs7564559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7577551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7589443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7589444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151905800-151908600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:151905800-151909000	Enhancers	HMEC	breast
3	chr2:151906000-151908600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:151906000-151908600	Enhancers	NHEK	skin
5	chr2:151906000-151910600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:151906000-151910800	Enhancers	NHDF-Ad	bronchial
7	chr2:151906400-151912600	Weak transcription	NHLF	lung
8	chr2:151906800-151908200	Weak transcription	Liver	Liver
9	chr2:151907200-151908200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:151907200-151909400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:151907400-151909200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:151907600-151908400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:151907600-151909200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:151907800-151908200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:151908000-151908600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:151908000-151910600	Enhancers	Osteobl	bone

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