Variant report

Variant	rs1950630
Chromosome Location	chr14:40152962-40152963
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	chr14:40151450..40153481-chr14:40156215..40158887,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10483531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847630	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109607	0.95[EUR][1000 genomes]
rs1950629	0.93[EUR][1000 genomes]
rs1956148	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56382477	0.95[EUR][1000 genomes]
rs57361454	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59029375	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151639	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915558	chr14:39944831-40165370	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832775	chr14:40038735-40193559	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1051931	chr14:40130325-40164269	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1046932	chr14:40132136-40268085	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1047288	chr14:40143177-40275545	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40150800-40153000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:40150800-40153400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr14:40150800-40153600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:40150800-40153800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:40151000-40153400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:40151000-40154200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:40151200-40153600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr14:40151200-40154000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:40151800-40153000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:40152400-40153200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:40152400-40153200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:40152400-40153200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr14:40152400-40153400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:40152400-40153400	Enhancers	NH-A	brain
15	chr14:40152400-40153800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:40152600-40153400	Enhancers	Primary T cells from cord blood	blood
17	chr14:40152600-40153400	Enhancers	GM12878-XiMat	blood
18	chr14:40152600-40153600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:40152600-40153800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:40152800-40153200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:40152800-40153600	Enhancers	Osteobl	bone

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