Variant report

Variant	rs11848238
Chromosome Location	chr14:65123515-65123516
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65121948..65123867-chr14:65127242..65130196,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11158554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11158555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12431555	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12432551	0.93[ASN][1000 genomes]
rs12435904	0.93[ASN][1000 genomes]
rs12436296	0.81[ASN][1000 genomes]
rs12893758	0.93[ASN][1000 genomes]
rs12894022	0.80[ASN][1000 genomes]
rs1950302	0.93[ASN][1000 genomes]
rs1956418	0.80[ASN][1000 genomes]
rs1956419	0.89[ASN][1000 genomes]
rs1956420	0.95[ASN][1000 genomes]
rs2016351	0.82[ASN][1000 genomes]
rs4899141	0.86[ASN][1000 genomes]
rs7142258	0.86[ASN][1000 genomes]
rs7143298	0.87[ASN][1000 genomes]
rs7143397	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs733127	0.94[ASN][1000 genomes]
rs8007886	0.84[ASN][1000 genomes]
rs8015571	0.81[ASN][1000 genomes]
rs910998	0.84[ASN][1000 genomes]
rs911000	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1008915	chr14:65117194-65126733	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65116800-65125000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:65117000-65128400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:65121200-65123600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:65121400-65126200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:65121400-65126200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:65121600-65123600	Weak transcription	NHEK	skin
7	chr14:65122000-65123600	Weak transcription	NHLF	lung
8	chr14:65122000-65124200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr14:65122000-65125200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:65122000-65125600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:65122000-65128400	Weak transcription	HSMM	muscle
12	chr14:65122200-65123600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:65122200-65123600	Weak transcription	Fetal Stomach	stomach
14	chr14:65122200-65123600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:65122200-65123800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr14:65122200-65123800	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:65122200-65123800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr14:65122200-65125600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:65122200-65125600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:65122200-65125600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:65122200-65125800	Weak transcription	NHDF-Ad	bronchial
22	chr14:65122200-65126400	Weak transcription	Osteobl	bone
23	chr14:65122200-65128400	Weak transcription	Placenta	Placenta
24	chr14:65122200-65129600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr14:65122200-65129800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:65122200-65129800	Weak transcription	A549	lung
27	chr14:65122600-65125800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr14:65122600-65128400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:65123200-65123800	Enhancers	Colon Smooth Muscle	Colon
30	chr14:65123400-65123600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:65123400-65123600	Enhancers	Adipose Nuclei	Adipose
32	chr14:65123400-65123800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:65123400-65124200	Enhancers	Liver	Liver

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