Variant report

Variant	rs11621387
Chromosome Location	chr14:73027000-73027001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3291	1.00[CEU][hapmap];0.92[GIH][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35060690	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3742843	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs723943	1.00[CEU][hapmap];0.91[TSI][hapmap];0.88[EUR][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
rs11621387	RAD51L1	cis	cerebellum	SCAN
rs11621387	ACOT4	cis	cerebellum	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:73012400-73032000	Weak transcription	Brain Germinal Matrix	brain
2	chr14:73024000-73027200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:73024200-73027400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:73024200-73027400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:73024200-73028600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:73024400-73027000	Enhancers	NHLF	lung
7	chr14:73024400-73027200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr14:73024400-73027400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:73024400-73027400	Enhancers	NH-A	brain
10	chr14:73024600-73027200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:73024800-73027400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr14:73025000-73027000	Enhancers	Fetal Brain Female	brain
13	chr14:73025000-73027200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:73025000-73027200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:73025000-73027400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:73025000-73027400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:73025000-73027400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:73025200-73027000	Enhancers	Primary B cells from peripheral blood	blood
19	chr14:73025400-73027400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:73025600-73027000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr14:73025600-73027200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:73025600-73027200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr14:73025600-73027400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:73025800-73027200	Enhancers	Right Atrium	heart
25	chr14:73026000-73027000	Enhancers	Brain Hippocampus Middle	brain
26	chr14:73026000-73027000	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr14:73026000-73027400	Enhancers	NHEK	skin
28	chr14:73026000-73027400	Enhancers	Osteobl	bone
29	chr14:73026000-73028000	Enhancers	Fetal Heart	heart
30	chr14:73026200-73027400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:73026200-73027400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:73026200-73030200	Weak transcription	Primary B cells from cord blood	blood
33	chr14:73026400-73027000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:73026400-73027400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr14:73026400-73027400	Enhancers	HSMMtube	muscle
36	chr14:73026400-73027600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:73026400-73034400	Weak transcription	Fetal Brain Male	brain
38	chr14:73026600-73027000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:73026600-73027800	Enhancers	HSMM	muscle
40	chr14:73026600-73028000	Enhancers	HMEC	breast
41	chr14:73026600-73031200	Weak transcription	Right Ventricle	heart
42	chr14:73026800-73027200	Enhancers	Left Ventricle	heart
43	chr14:73026800-73027400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr14:73026800-73031200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:73026800-73031200	Weak transcription	Psoas Muscle	Psoas
46	chr14:73026800-73031800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:73027000-73027200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:73027000-73027200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:73027000-73027200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr14:73027000-73030000	Weak transcription	Brain Hippocampus Middle	brain

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