Variant report

Variant	rs12887943
Chromosome Location	chr14:70465383-70465384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70320695..70323583-chr14:70464864..70466955,3	MCF-7	breast:
2	chr14:70464484..70467038-chr14:70477152..70479604,2	MCF-7	breast:
3	chr14:70464835..70467780-chr14:70480239..70482134,2	MCF-7	breast:
4	chr14:70463869..70467031-chr14:70472418..70474604,3	MCF-7	breast:
5	chr14:70450323..70452764-chr14:70464697..70467120,2	MCF-7	breast:
6	chr14:70464914..70467730-chr14:70484220..70485964,2	MCF-7	breast:
7	chr14:70465021..70466009-chr6:135375511..135376290,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000232876	Chromatin interaction
ENSG00000112339	Chromatin interaction
ENSG00000198732	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10134291	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs10134965	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs11158827	0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs1156446	0.81[AMR][1000 genomes]
rs12050076	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12050089	0.99[ASN][1000 genomes]
rs12101270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878947	0.82[ASN][1000 genomes]
rs12885068	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12885683	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs12889195	0.99[ASN][1000 genomes]
rs12890357	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1459704	0.96[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs17107547	0.94[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17107592	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17107610	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1998334	0.81[AMR][1000 genomes]
rs227437	0.94[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34311408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3825739	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55784307	0.81[AMR][1000 genomes]
rs56031625	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56242824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57609901	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60011612	0.89[AMR][1000 genomes]
rs67294558	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7141378	0.97[ASN][1000 genomes]
rs7157226	0.96[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs7160726	0.96[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs72728002	0.81[AMR][1000 genomes]
rs72729803	0.81[AMR][1000 genomes]
rs8012912	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs8015491	0.91[JPT][hapmap];0.82[ASN][1000 genomes]

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:38 , 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	chr14:70458800-70465400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:70459000-70484800	Weak transcription	Gastric	stomach
7	chr14:70460000-70473800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:70460200-70468000	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:70460400-70472200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:70462000-70468600	Enhancers	HMEC	breast
11	chr14:70462200-70465400	Enhancers	Hela-S3	cervix
12	chr14:70462200-70475600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:70462600-70466000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:70462600-70467800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:70462600-70467800	Enhancers	NHEK	skin
16	chr14:70462600-70468000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:70462600-70468400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:70462800-70467600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:70463000-70468000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:70463800-70466200	Enhancers	Liver	Liver
21	chr14:70463800-70467000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:70463800-70469400	Enhancers	Pancreas	Pancrea
23	chr14:70464200-70466200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:70464200-70468000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:70464400-70465400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr14:70464400-70465400	Flanking Active TSS	A549	lung
27	chr14:70464400-70465600	Enhancers	NH-A	brain
28	chr14:70464400-70466200	Enhancers	HSMM	muscle
29	chr14:70464400-70467200	Enhancers	Osteobl	bone
30	chr14:70464600-70465600	Weak transcription	Stomach Mucosa	stomach
31	chr14:70464600-70466000	Enhancers	Stomach Smooth Muscle	stomach
32	chr14:70464600-70466200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr14:70464600-70467000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr14:70464800-70466600	Enhancers	Fetal Stomach	stomach
35	chr14:70464800-70466800	Enhancers	HUVEC	blood vessel
36	chr14:70465000-70473600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:70465200-70465600	Weak transcription	HepG2	liver
38	chr14:70465200-70477000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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