Variant report

Variant	rs227410
Chromosome Location	chr14:70474818-70474819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70358031..70360032-chr14:70474315..70475881,2	MCF-7	breast:
2	chr14:70469751..70473498-chr14:70474814..70477907,3	MCF-7	breast:
3	chr14:70469147..70471287-chr14:70474432..70477104,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs150947	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs1958081	1.00[MEX][hapmap]
rs227406	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs227409	1.00[MEX][hapmap]
rs227411	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs227440	1.00[MEX][hapmap]
rs227443	1.00[MEX][hapmap]
rs7142807	1.00[MEX][hapmap]

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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70439800-70477200	Weak transcription	Spleen	Spleen
2	chr14:70450600-70477200	Weak transcription	Fetal Brain Female	brain
3	chr14:70457800-70484800	Weak transcription	Brain Substantia Nigra	brain
4	chr14:70458600-70480800	Weak transcription	Brain Germinal Matrix	brain
5	chr14:70459000-70484800	Weak transcription	Gastric	stomach
6	chr14:70462200-70475600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:70465200-70477000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:70466000-70475600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:70466200-70484800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr14:70467600-70476000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:70467800-70475800	Weak transcription	NHEK	skin
12	chr14:70467800-70476200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:70468400-70484400	Weak transcription	A549	lung
14	chr14:70468600-70475600	Weak transcription	HMEC	breast
15	chr14:70468800-70475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:70469800-70484800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:70470400-70479800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:70472200-70481400	Weak transcription	Fetal Muscle Leg	muscle
19	chr14:70472400-70475000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:70472400-70485400	Strong transcription	Hela-S3	cervix
21	chr14:70473000-70475200	Weak transcription	Liver	Liver
22	chr14:70473400-70475200	Enhancers	GM12878-XiMat	blood
23	chr14:70473600-70475000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:70473600-70475400	Weak transcription	Stomach Mucosa	stomach
25	chr14:70473800-70475000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:70473800-70475200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:70473800-70476600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:70473800-70476800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:70473800-70477000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:70474000-70477000	Weak transcription	HepG2	liver
31	chr14:70474400-70476000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:70474400-70477400	Enhancers	Fetal Stomach	stomach

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