Variant report

Variant	rs3742843
Chromosome Location	chr14:73032103-73032104
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	chr14:73027080..73029915-chr14:73030581..73032149,2	MCF-7	breast:
2	chr14:73021238..73023214-chr14:73030820..73033592,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS6-2	chr14:73030783-73033233	NONHSAT037652

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11621387	0.87[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3291	0.87[CEU][hapmap];0.92[GIH][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs723943	0.85[CEU][hapmap];0.87[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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv518320	chr14:73023436-73032103	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1047057	chr14:73024744-73221375	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3742843	ACOT4	cis	cerebellum	SCAN
rs3742843	RAD51L1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:73026400-73034400	Weak transcription	Fetal Brain Male	brain
2	chr14:73027000-73039800	Weak transcription	Fetal Brain Female	brain
3	chr14:73027200-73033200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:73027400-73032200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:73030000-73033800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr14:73030200-73033000	Enhancers	Left Ventricle	heart
7	chr14:73030200-73034000	Enhancers	Fetal Muscle Leg	muscle
8	chr14:73030200-73035200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:73030400-73035600	Enhancers	Fetal Stomach	stomach
10	chr14:73030800-73032800	Weak transcription	Primary B cells from cord blood	blood
11	chr14:73030800-73035600	Enhancers	Fetal Muscle Trunk	muscle
12	chr14:73031200-73032600	Enhancers	Right Atrium	heart
13	chr14:73031200-73032600	Enhancers	HSMM	muscle
14	chr14:73031200-73032800	Enhancers	Psoas Muscle	Psoas
15	chr14:73031200-73034200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:73031400-73032600	Enhancers	Fetal Heart	heart
17	chr14:73031400-73034000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr14:73031600-73032600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr14:73031600-73032800	Enhancers	HSMMtube	muscle
20	chr14:73031800-73032400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr14:73031800-73032600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr14:73031800-73032600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr14:73031800-73033000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:73032000-73032600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
25	chr14:73032000-73033200	Enhancers	Brain Germinal Matrix	brain
26	chr14:73032000-73034000	Weak transcription	Right Ventricle	heart
27	chr14:73032000-73035000	Weak transcription	Placenta	Placenta

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