Variant report

Variant	rs6430440
Chromosome Location	chr2:134430605-134430606
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:134429609..134432555-chr2:134438012..134440647,2	MCF-7	breast:
2	chr2:134425826..134428280-chr2:134430493..134432973,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11901215	1.00[MEX][hapmap]
rs16827348	1.00[AMR][1000 genomes]
rs59384957	1.00[AMR][1000 genomes]
rs60998215	1.00[AMR][1000 genomes]
rs72998142	1.00[AMR][1000 genomes]
rs72998162	1.00[AMR][1000 genomes]
rs73002007	1.00[AMR][1000 genomes]
rs7561867	0.94[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	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134425200-134431800	Weak transcription	HMEC	breast
2	chr2:134425200-134432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:134428600-134430800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:134429600-134431400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:134429800-134430800	Weak transcription	Fetal Kidney	kidney
6	chr2:134429800-134431000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:134429800-134431000	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:134430000-134431000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:134430200-134431400	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr2:134430200-134433400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:134430400-134431200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:134430400-134431200	Enhancers	Brain Substantia Nigra	brain
13	chr2:134430400-134431400	Enhancers	Liver	Liver
14	chr2:134430400-134432000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:134430600-134431000	Enhancers	Brain Angular Gyrus	brain
16	chr2:134430600-134431000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:134430600-134431200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:134430600-134431200	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr2:134430600-134431200	Enhancers	Fetal Heart	heart
20	chr2:134430600-134431200	Enhancers	Left Ventricle	heart
21	chr2:134430600-134431400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:134430600-134431600	Enhancers	Brain Germinal Matrix	brain
23	chr2:134430600-134431600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr2:134430600-134432000	Enhancers	Fetal Brain Male	brain
25	chr2:134430600-134432000	Enhancers	Fetal Lung	lung
26	chr2:134430600-134432000	Enhancers	Fetal Muscle Leg	muscle
27	chr2:134430600-134432200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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