Variant report

Variant	rs34416212
Chromosome Location	chr14:35854422-35854423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35834445..35839728-chr14:35850287..35856081,6	K562	blood:
2	chr14:35853811..35865065-chr14:35868487..35875838,31	K562	blood:
3	chr14:35590854..35592672-chr14:35853334..35855525,2	MCF-7	breast:
4	chr14:35853630..35855613-chr14:35858688..35861464,2	K562	blood:
5	chr14:35850100..35852410-chr14:35853864..35856080,2	K562	blood:

Variant related genes	Relation type
ENSG00000092020	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000100890	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12433011	0.80[ASN][1000 genomes]
rs12883213	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12883343	0.80[ASN][1000 genomes]
rs1951275	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1951276	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1951277	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1951278	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34150541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4460979	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58048675	0.89[ASN][1000 genomes]
rs7146555	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7146577	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7152376	0.80[ASN][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	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
2	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv1047010	chr14:35853661-35887823	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv542037	chr14:35853661-35887823	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35851200-35855000	Enhancers	Placenta	Placenta
2	chr14:35852200-35855400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:35852400-35854600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr14:35852400-35855200	Enhancers	Psoas Muscle	Psoas
5	chr14:35852400-35855600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr14:35852400-35855800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:35852400-35856200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:35852400-35856200	Enhancers	Fetal Muscle Leg	muscle
9	chr14:35852600-35854600	Enhancers	Hela-S3	cervix
10	chr14:35852600-35855400	Enhancers	Fetal Intestine Small	intestine
11	chr14:35852600-35855400	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr14:35852600-35856400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:35852800-35855200	Enhancers	Colonic Mucosa	Colon
14	chr14:35852800-35855200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr14:35852800-35855200	Enhancers	Stomach Mucosa	stomach
16	chr14:35852800-35855200	Enhancers	Spleen	Spleen
17	chr14:35852800-35855400	Enhancers	Fetal Intestine Large	intestine
18	chr14:35852800-35855400	Enhancers	HUVEC	blood vessel
19	chr14:35852800-35855400	Enhancers	Osteobl	bone
20	chr14:35852800-35855600	Enhancers	Fetal Muscle Trunk	muscle
21	chr14:35852800-35855600	Enhancers	Fetal Stomach	stomach
22	chr14:35852800-35855600	Enhancers	Left Ventricle	heart
23	chr14:35852800-35855600	Enhancers	NHLF	lung
24	chr14:35852800-35856200	Enhancers	Adipose Nuclei	Adipose
25	chr14:35852800-35856400	Enhancers	Fetal Heart	heart
26	chr14:35852800-35856600	Enhancers	NHDF-Ad	bronchial
27	chr14:35852800-35857200	Enhancers	Ovary	ovary
28	chr14:35852800-35857600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:35853000-35854800	Enhancers	Esophagus	oesophagus
30	chr14:35853000-35855200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr14:35853000-35855200	Enhancers	Right Atrium	heart
32	chr14:35853000-35855400	Enhancers	Fetal Thymus	thymus
33	chr14:35853000-35855600	Enhancers	Brain Hippocampus Middle	brain
34	chr14:35853000-35855600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:35853000-35855600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr14:35853000-35855600	Enhancers	Lung	lung
37	chr14:35853000-35855600	Enhancers	NH-A	brain
38	chr14:35853000-35856000	Enhancers	Right Ventricle	heart
39	chr14:35853200-35855200	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr14:35853200-35855400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:35853200-35855400	Enhancers	Brain Angular Gyrus	brain
42	chr14:35853200-35855600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:35853200-35856000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:35853200-35856000	Enhancers	HSMMtube	muscle
45	chr14:35853200-35856400	Enhancers	Brain Substantia Nigra	brain
46	chr14:35853400-35855200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:35853400-35855200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:35853400-35855200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr14:35853400-35856000	Enhancers	Brain Cingulate Gyrus	brain
50	chr14:35853400-35856200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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