Variant report

Variant	rs1204968
Chromosome Location	chr14:72231529-72231530
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	chr14:72225522..72228097-chr14:72229687..72232421,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1204965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1204977	1.00[AMR][1000 genomes]
rs1204979	1.00[AMR][1000 genomes]
rs1204980	1.00[AMR][1000 genomes]
rs1205099	1.00[EUR][1000 genomes]
rs1212575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1892561	1.00[EUR][1000 genomes]
rs2096449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2802574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2802575	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1204968	TCERG1L	trans	lymphoblastoid	seeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72221600-72243200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:72231000-72231600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:72231000-72231800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:72231200-72231800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr14:72231200-72231800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:72231200-72231800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:72231200-72231800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:72231200-72232000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr14:72231200-72232200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:72231400-72231600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:72231400-72231600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:72231400-72231600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:72231400-72231600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr14:72231400-72231600	Enhancers	Brain Anterior Caudate	brain
15	chr14:72231400-72231600	Bivalent Enhancer	Fetal Stomach	stomach
16	chr14:72231400-72231600	Enhancers	Right Atrium	heart
17	chr14:72231400-72231600	Flanking Active TSS	Hela-S3	cervix
18	chr14:72231400-72231600	Enhancers	HSMM	muscle
19	chr14:72231400-72231800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:72231400-72231800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:72231400-72231800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:72231400-72231800	Active TSS	Liver	Liver
23	chr14:72231400-72231800	Enhancers	Colon Smooth Muscle	Colon
24	chr14:72231400-72231800	Enhancers	Fetal Brain Male	brain
25	chr14:72231400-72231800	Enhancers	Fetal Muscle Leg	muscle
26	chr14:72231400-72231800	Active TSS	Ovary	ovary
27	chr14:72231400-72231800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr14:72231400-72232000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:72231400-72232000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:72231400-72232000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr14:72231400-72232200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:72231400-72232200	Flanking Active TSS	Osteobl	bone

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