Variant report

Variant	rs4899306
Chromosome Location	chr14:70059618-70059619
allele	A/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: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10747300	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107137	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2184598	1.00[CEU][hapmap]
rs2877576	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784148	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs3784150	1.00[CEU][hapmap]
rs3784151	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs3809394	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs3809396	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4899302	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902735	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902736	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58585757	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573895	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142060	0.93[EUR][1000 genomes]
rs8015482	1.00[EUR][1000 genomes];1.00[ASN][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:34 , 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	chr14:70054400-70059800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr14:70058000-70060200	Enhancers	Fetal Stomach	stomach
5	chr14:70058200-70060200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:70058400-70059800	Weak transcription	Fetal Brain Female	brain
7	chr14:70058600-70060000	Weak transcription	Fetal Brain Male	brain
8	chr14:70058800-70060000	Weak transcription	Fetal Thymus	thymus
9	chr14:70059200-70060000	Enhancers	Fetal Muscle Trunk	muscle
10	chr14:70059200-70061000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr14:70059200-70061800	Enhancers	Fetal Muscle Leg	muscle
12	chr14:70059400-70059800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:70059400-70059800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:70059400-70059800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:70059400-70060000	Enhancers	HSMMtube	muscle
16	chr14:70059400-70060600	Enhancers	Brain Substantia Nigra	brain
17	chr14:70059400-70060600	Enhancers	Fetal Lung	lung
18	chr14:70059400-70061000	Enhancers	Placenta	Placenta
19	chr14:70059600-70059800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:70059600-70059800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:70059600-70059800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:70059600-70059800	Enhancers	Adipose Nuclei	Adipose
23	chr14:70059600-70059800	Enhancers	Fetal Intestine Small	intestine
24	chr14:70059600-70059800	Enhancers	Stomach Smooth Muscle	stomach
25	chr14:70059600-70059800	Enhancers	NHDF-Ad	bronchial
26	chr14:70059600-70059800	Enhancers	Osteobl	bone
27	chr14:70059600-70060000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr14:70059600-70060000	Enhancers	HSMM	muscle
29	chr14:70059600-70060200	Enhancers	Brain Hippocampus Middle	brain
30	chr14:70059600-70060400	Enhancers	HMEC	breast
31	chr14:70059600-70060600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:70059600-70060600	Enhancers	Brain Anterior Caudate	brain
33	chr14:70059600-70060800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:70059600-70060800	Enhancers	NHEK	skin

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