Variant report

Variant	rs17440692
Chromosome Location	chr14:33206507-33206508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:33201447..33204366-chr14:33204778..33206779,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151320	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10131793	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1013682	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149509	0.88[CEU][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs1295912	0.81[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes]
rs17099499	0.88[CEU][hapmap]
rs17440720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17519834	0.88[CHB][hapmap]
rs2300831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300832	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300833	0.82[CEU][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs2300834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300837	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2474642	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41285498	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4981999	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4982001	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982002	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73266957	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73266980	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv832765	chr14:33188170-33367348	Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33192400-33207200	Weak transcription	Left Ventricle	heart
2	chr14:33194600-33225600	Weak transcription	Aorta	Aorta
3	chr14:33194800-33222200	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:33195200-33209200	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:33196200-33208000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:33198600-33214800	Weak transcription	Right Ventricle	heart
7	chr14:33199000-33218000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:33202600-33228800	Weak transcription	Brain Angular Gyrus	brain
9	chr14:33203400-33207600	Strong transcription	HSMMtube	muscle
10	chr14:33203600-33206800	Weak transcription	Brain Germinal Matrix	brain
11	chr14:33203600-33220600	Weak transcription	Brain Substantia Nigra	brain
12	chr14:33205000-33208000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:33205200-33207200	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:33205200-33254600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:33205400-33207000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:33205400-33208400	Weak transcription	Fetal Brain Female	brain
17	chr14:33205600-33206600	Weak transcription	Fetal Heart	heart
18	chr14:33205800-33207200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:33205800-33215400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr14:33206200-33206800	Weak transcription	HMEC	breast
21	chr14:33206400-33218800	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:33206400-33225000	Weak transcription	Stomach Smooth Muscle	stomach

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