Variant report

Variant	rs1135473
Chromosome Location	chr14:38681113-38681114
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	chr14:38675920..38678398-chr14:38679930..38682476,3	K562	blood:
2	chr14:38675920..38678398-chr14:38679930..38682476,2	K562	blood:

Variant related genes	Relation type
ENSG00000139874	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10047912	0.94[ASN][1000 genomes]
rs10142863	0.97[ASN][1000 genomes]
rs11622412	1.00[ASN][1000 genomes]
rs11626334	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11628551	0.99[ASN][1000 genomes]
rs12588186	0.99[ASN][1000 genomes]
rs17107731	0.91[ASN][1000 genomes]
rs33926928	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4143959	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4640088	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144914	0.92[ASN][1000 genomes]
rs8007451	0.99[ASN][1000 genomes]
rs8020680	0.99[ASN][1000 genomes]
rs9788480	0.93[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	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	nsv533235	chr14:38558180-39117391	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832773	chr14:38612778-38785003	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38676600-38681600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:38677600-38681200	Bivalent/Poised TSS	Psoas Muscle	Psoas
3	chr14:38678200-38681200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr14:38679200-38681200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:38679400-38681200	Bivalent/Poised TSS	Right Ventricle	heart
6	chr14:38679400-38681800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr14:38679600-38681200	Active TSS	Right Atrium	heart
8	chr14:38679600-38681400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:38679600-38681400	Active TSS	Duodenum Mucosa	Duodenum
10	chr14:38679600-38681600	Active TSS	NHDF-Ad	bronchial
11	chr14:38679600-38681800	Active TSS	NHLF	lung
12	chr14:38680000-38681200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:38680000-38681400	Active TSS	Stomach Mucosa	stomach
14	chr14:38680200-38681800	Active TSS	Hela-S3	cervix
15	chr14:38680400-38681200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr14:38680400-38681200	Bivalent/Poised TSS	Lung	lung
17	chr14:38680600-38681200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:38680600-38681800	Enhancers	Liver	Liver
19	chr14:38680800-38681200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:38680800-38681200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr14:38680800-38681200	Active TSS	Brain Hippocampus Middle	brain
22	chr14:38680800-38681200	Bivalent/Poised TSS	Fetal Stomach	stomach
23	chr14:38680800-38682000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:38681000-38681200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:38681000-38681200	Bivalent Enhancer	Adipose Nuclei	Adipose
26	chr14:38681000-38681200	Active TSS	Brain Cingulate Gyrus	brain
27	chr14:38681000-38681200	Bivalent Enhancer	Fetal Intestine Large	intestine
28	chr14:38681000-38681200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
29	chr14:38681000-38681200	Enhancers	HUVEC	blood vessel

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