Variant report

Variant	rs6793216
Chromosome Location	chr3:141748945-141748946
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	FOS	chr3:141748841-141748994	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:141746024..141748965-chr3:160116774..160118286,2	K562	blood:
2	chr3:141748723..141752115-chr3:141753472..141758138,4	MCF-7	breast:
3	chr3:141151754..141154048-chr3:141748045..141749745,2	K562	blood:

Variant related genes	Relation type
TFDP2	TF binding region
ENSG00000113810	Chromatin interaction
ENSG00000068885	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs57040056	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57528906	1.00[AMR][1000 genomes]
rs57535573	1.00[AMR][1000 genomes]
rs60203764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60311564	0.89[AFR][1000 genomes]
rs6768288	0.95[AFR][1000 genomes]
rs6803712	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990238	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990253	1.00[AMR][1000 genomes]
rs72990256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990274	1.00[AMR][1000 genomes]
rs72995068	1.00[AMR][1000 genomes]
rs7634385	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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	27 gene(s)	inside rSNPs	diseases
3	nsv1002446	chr3:141719169-142070290	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2757892	chr3:141728870-142129836	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759182	chr3:141728870-142129836	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv877553	chr3:141732321-141786073	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv877554	chr3:141735532-141781890	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv877555	chr3:141740076-141791408	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141747400-141750800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr3:141747600-141749000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:141747600-141749000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr3:141747600-141749000	Enhancers	Colon Smooth Muscle	Colon
5	chr3:141747600-141749200	Enhancers	Fetal Heart	heart
6	chr3:141747600-141750200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:141747600-141750400	Weak transcription	Primary B cells from cord blood	blood
8	chr3:141747600-141750600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:141747600-141750600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr3:141747600-141750800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:141747600-141751600	Weak transcription	HSMM	muscle
12	chr3:141747600-141752200	Weak transcription	Fetal Intestine Large	intestine
13	chr3:141747600-141752400	Weak transcription	Fetal Intestine Small	intestine
14	chr3:141747600-141762600	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:141747600-141762800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:141747600-141773000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:141747600-141780400	Weak transcription	Left Ventricle	heart
18	chr3:141748200-141749000	Enhancers	Dnd41	blood
19	chr3:141748200-141749000	Flanking Active TSS	K562	blood
20	chr3:141748200-141750600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:141748200-141753800	Weak transcription	Fetal Thymus	thymus
22	chr3:141748200-141754000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:141748200-141755200	Weak transcription	Aorta	Aorta
24	chr3:141748600-141749000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr3:141748800-141758400	Weak transcription	Thymus	Thymus

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