Variant report

Variant	rs58493383
Chromosome Location	chr3:150121534-150121535
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	FOXA1	chr3:150121328-150121604	HepG2	liver:	n/a	chr3:150121500-150121515
2	FOXA1	chr3:150121361-150121599	T-47D	breast:	n/a	chr3:150121500-150121515
3	FOXA2	chr3:150121424-150121567	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:150120348..150122369-chr3:150175788..150177306,2	K562	blood:
2	chr3:150101805..150104730-chr3:150121434..150125041,3	K562	blood:
3	chr3:150088730..150091158-chr3:150119055..150121644,3	MCF-7	breast:
4	chr3:150107548..150109124-chr3:150119835..150121754,2	MCF-7	breast:
5	chr3:150093271..150095858-chr3:150119716..150121921,2	MCF-7	breast:

Variant related genes	Relation type
TSC22D2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10935799	1.00[AMR][1000 genomes]
rs28420602	1.00[AMR][1000 genomes]
rs28432951	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28592750	1.00[AMR][1000 genomes]
rs57522409	1.00[AMR][1000 genomes]
rs58823268	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60875454	1.00[AMR][1000 genomes]
rs61734436	1.00[AMR][1000 genomes]
rs6440674	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6440675	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7624827	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
2	chr3:150109200-150124400	Weak transcription	HSMM	muscle
3	chr3:150109200-150124600	Weak transcription	NHLF	lung
4	chr3:150115400-150123600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:150117000-150125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:150117200-150125000	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:150117400-150121600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:150117400-150125000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:150119600-150124600	Weak transcription	Fetal Intestine Large	intestine
10	chr3:150119600-150124600	Weak transcription	Fetal Intestine Small	intestine
11	chr3:150120200-150124800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:150121000-150121800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:150121200-150121800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:150121200-150121800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:150121200-150122000	Weak transcription	HSMMtube	muscle
16	chr3:150121200-150122200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:150121400-150121600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr3:150121400-150121600	Enhancers	A549	lung
19	chr3:150121400-150121600	Enhancers	NHEK	skin
20	chr3:150121400-150121800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:150121400-150122200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:150121400-150122200	Enhancers	Hela-S3	cervix
23	chr3:150121400-150122400	Enhancers	NHDF-Ad	bronchial
24	chr3:150121400-150124800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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