Variant report

Variant	rs10139793
Chromosome Location	chr14:72917137-72917138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:72916970-72917212	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RGS6	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1004477	0.87[ASN][1000 genomes]
rs10132956	0.91[AMR][1000 genomes]
rs10149051	0.84[AMR][1000 genomes]
rs11628490	0.82[ASN][1000 genomes]
rs12436819	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17115530	0.87[ASN][1000 genomes]
rs17115702	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17115708	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1860152	0.89[ASN][1000 genomes]
rs2007903	0.87[ASN][1000 genomes]
rs2238190	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2239211	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28428926	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3819548	0.81[AMR][1000 genomes]
rs4903019	0.82[ASN][1000 genomes]
rs4903020	0.82[ASN][1000 genomes]
rs4903022	0.89[ASN][1000 genomes]
rs58470149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58482573	0.84[AMR][1000 genomes]
rs7143134	0.88[ASN][1000 genomes]
rs7146819	0.87[ASN][1000 genomes]
rs719064	0.86[ASN][1000 genomes]
rs740536	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8022670	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[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	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
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72908400-72917600	Weak transcription	Lung	lung
2	chr14:72911800-72917200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:72911800-72917200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:72911800-72917600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:72912000-72917200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:72912000-72917400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr14:72912200-72917400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:72913600-72917400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:72913800-72922600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:72916000-72917800	Enhancers	Brain Germinal Matrix	brain
11	chr14:72916200-72917200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:72916200-72917600	Enhancers	GM12878-XiMat	blood
13	chr14:72916200-72920000	Enhancers	Fetal Stomach	stomach
14	chr14:72916400-72917400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:72916400-72917400	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:72916400-72917600	Enhancers	Dnd41	blood
17	chr14:72916400-72917800	Enhancers	Primary T cells from cord blood	blood
18	chr14:72916400-72919800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:72916600-72917600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:72916600-72917600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:72916600-72917600	Weak transcription	Left Ventricle	heart
22	chr14:72916600-72919000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr14:72917000-72917800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:72917000-72917800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:72917000-72917800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:72917000-72918400	Enhancers	Fetal Lung	lung

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