Variant report

Variant	rs3850424
Chromosome Location	chr14:70565008-70565009
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	chr14:70564827..70567373-chr14:70568673..70570974,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11158829	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12147431	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1459705	1.00[JPT][hapmap]
rs150943	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs150948	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs150949	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs150950	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs150951	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs150952	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs150953	0.89[EUR][1000 genomes]
rs178920	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1887734	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1958185	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2025962	0.94[EUR][1000 genomes]
rs3742910	1.00[JPT][hapmap]
rs4899326	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6573925	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7140302	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7148459	1.00[CEU][hapmap]
rs7149686	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7159009	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7160327	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7160677	1.00[CEU][hapmap];0.95[EUR][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	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70557200-70565200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:70560000-70567600	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr14:70560000-70567800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr14:70563000-70565400	Enhancers	Psoas Muscle	Psoas
5	chr14:70563400-70565600	Bivalent Enhancer	Fetal Lung	lung
6	chr14:70563400-70567400	Enhancers	HSMMtube	muscle
7	chr14:70563600-70565200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:70563600-70565400	Enhancers	Brain Hippocampus Middle	brain
9	chr14:70563600-70566000	Enhancers	Brain Cingulate Gyrus	brain
10	chr14:70563600-70566000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:70564400-70565200	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr14:70564400-70565200	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr14:70564400-70565400	Enhancers	Brain Substantia Nigra	brain
14	chr14:70564400-70565400	Enhancers	Fetal Stomach	stomach
15	chr14:70564400-70565400	Enhancers	Rectal Smooth Muscle	rectum
16	chr14:70564400-70565400	Enhancers	Right Atrium	heart
17	chr14:70564400-70565600	Enhancers	Brain Germinal Matrix	brain
18	chr14:70564400-70565600	Enhancers	Colon Smooth Muscle	Colon
19	chr14:70564400-70565600	Enhancers	Stomach Smooth Muscle	stomach
20	chr14:70564400-70565800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:70564400-70566000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:70564600-70565400	Enhancers	Left Ventricle	heart
23	chr14:70564600-70565400	Enhancers	Lung	lung
24	chr14:70564600-70565600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr14:70564600-70565800	Enhancers	Primary hematopoietic stem cells	blood
26	chr14:70564600-70565800	Enhancers	HSMM	muscle
27	chr14:70564800-70565400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:70564800-70565400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr14:70564800-70565400	Bivalent Enhancer	Osteobl	bone
30	chr14:70564800-70565800	Weak transcription	Brain Angular Gyrus	brain
31	chr14:70564800-70566400	Enhancers	Brain Anterior Caudate	brain
32	chr14:70565000-70565200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:70565000-70565200	Enhancers	Fetal Brain Female	brain
34	chr14:70565000-70565800	Enhancers	HepG2	liver
35	chr14:70565000-70566400	Enhancers	Fetal Brain Male	brain

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