Variant report

Variant	rs1040601
Chromosome Location	chr14:33193325-33193326
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:33190851..33193807-chr14:33195720..33198266,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1013682	0.83[CEU][hapmap]
rs10149509	0.88[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1295912	0.83[CEU][hapmap]
rs1296837	0.94[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17099499	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2300832	0.83[CEU][hapmap]
rs2300833	0.94[CEU][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2474642	0.83[CEU][hapmap]
rs4982001	0.83[CEU][hapmap]
rs4982002	0.82[CEU][hapmap]
rs981524	0.88[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33173200-33194800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:33179000-33193400	Weak transcription	HSMMtube	muscle
3	chr14:33180400-33193400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:33180600-33193800	Weak transcription	Fetal Stomach	stomach
5	chr14:33180800-33194600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:33183600-33194000	Weak transcription	Aorta	Aorta
7	chr14:33186200-33196200	Enhancers	Fetal Heart	heart
8	chr14:33189000-33193600	Weak transcription	Brain Angular Gyrus	brain
9	chr14:33189200-33198000	Weak transcription	Fetal Brain Female	brain
10	chr14:33190200-33196600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:33190600-33193400	Weak transcription	HSMM	muscle
12	chr14:33190600-33193400	Weak transcription	NHDF-Ad	bronchial
13	chr14:33190600-33194400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr14:33190800-33193600	Weak transcription	Osteobl	bone
15	chr14:33192200-33193600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:33192200-33194400	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:33192200-33198200	Weak transcription	Right Ventricle	heart
18	chr14:33192400-33194200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:33192400-33207200	Weak transcription	Left Ventricle	heart
20	chr14:33193000-33193800	Enhancers	Brain Hippocampus Middle	brain
21	chr14:33193000-33194000	Enhancers	Brain Anterior Caudate	brain
22	chr14:33193000-33194200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:33193000-33194200	Enhancers	Brain Substantia Nigra	brain
24	chr14:33193200-33193800	Enhancers	Brain Cingulate Gyrus	brain

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