Variant report

Variant	rs11848538
Chromosome Location	chr14:70059851-70059852
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	chr14:70058651..70060501-chr14:70232212..70234500,2	K562	blood:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11844109	0.84[AFR][1000 genomes]
rs11844442	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs11845451	1.00[AFR][1000 genomes]
rs11846535	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11847303	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs11849303	0.94[AFR][1000 genomes]
rs6573896	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7155876	0.94[AFR][1000 genomes]
rs7156989	0.82[AFR][1000 genomes]
rs7160036	0.82[AFR][1000 genomes]
rs8004755	1.00[AFR][1000 genomes]
rs8009791	1.00[AFR][1000 genomes]
rs8014337	1.00[YRI][hapmap];1.00[AFR][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	nsv1335	chr14:70036126-70062584	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70041600-70060400	Weak transcription	Esophagus	oesophagus
2	chr14:70043800-70067200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:70058000-70060200	Enhancers	Fetal Stomach	stomach
4	chr14:70058200-70060200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr14:70058600-70060000	Weak transcription	Fetal Brain Male	brain
6	chr14:70058800-70060000	Weak transcription	Fetal Thymus	thymus
7	chr14:70059200-70060000	Enhancers	Fetal Muscle Trunk	muscle
8	chr14:70059200-70061000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr14:70059200-70061800	Enhancers	Fetal Muscle Leg	muscle
10	chr14:70059400-70060000	Enhancers	HSMMtube	muscle
11	chr14:70059400-70060600	Enhancers	Brain Substantia Nigra	brain
12	chr14:70059400-70060600	Enhancers	Fetal Lung	lung
13	chr14:70059400-70061000	Enhancers	Placenta	Placenta
14	chr14:70059600-70060000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr14:70059600-70060000	Enhancers	HSMM	muscle
16	chr14:70059600-70060200	Enhancers	Brain Hippocampus Middle	brain
17	chr14:70059600-70060400	Enhancers	HMEC	breast
18	chr14:70059600-70060600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:70059600-70060600	Enhancers	Brain Anterior Caudate	brain
20	chr14:70059600-70060800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:70059600-70060800	Enhancers	NHEK	skin
22	chr14:70059800-70060000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:70059800-70060000	Enhancers	Fetal Brain Female	brain
24	chr14:70059800-70060000	Enhancers	Ovary	ovary
25	chr14:70059800-70060000	Enhancers	Rectal Smooth Muscle	rectum
26	chr14:70059800-70060000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr14:70059800-70060200	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr14:70059800-70060200	Enhancers	Colon Smooth Muscle	Colon
29	chr14:70059800-70060400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:70059800-70060400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:70059800-70060400	Enhancers	Brain Angular Gyrus	brain
32	chr14:70059800-70060400	Enhancers	Brain Germinal Matrix	brain
33	chr14:70059800-70060400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr14:70059800-70060400	Active TSS	NHDF-Ad	bronchial
35	chr14:70059800-70060600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:70059800-70060600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:70059800-70060600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:70059800-70060600	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr14:70059800-70060600	Enhancers	Psoas Muscle	Psoas
40	chr14:70059800-70060600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr14:70059800-70060600	Enhancers	NH-A	brain
42	chr14:70059800-70060600	Flanking Active TSS	Osteobl	bone
43	chr14:70059800-70060800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:70059800-70060800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:70059800-70060800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:70059800-70060800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:70059800-70060800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:70059800-70060800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:70059800-70060800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:70059800-70060800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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