Variant report

Variant	rs9314154
Chromosome Location	chr5:95118157-95118158
allele	C/T
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	chr5:95101625-95118213	K562	blood:	n/a	n/a
2	POLR2A	chr5:95111953-95118472	MCF-7	breast:	n/a	n/a
3	POLR2A	chr5:95118115-95118270	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95113819..95116379-chr5:95117901..95121745,4	K562	blood:

Variant related genes	Relation type
RHOBTB3	TF binding region
ENSG00000164292	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10057261	0.83[ASN][1000 genomes]
rs10476659	1.00[ASN][1000 genomes]
rs13170826	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3756706	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3777212	0.93[ASN][1000 genomes]
rs3822753	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3822754	1.00[ASN][1000 genomes]
rs6556880	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6871090	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6890561	0.98[ASN][1000 genomes]
rs9314155	1.00[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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95072800-95133400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:95083200-95122000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:95087800-95134000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:95096400-95125400	Weak transcription	Small Intestine	intestine
5	chr5:95096600-95129800	Weak transcription	Colonic Mucosa	Colon
6	chr5:95105000-95131800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:95105600-95119200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:95105600-95119800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:95105800-95119400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:95105800-95119400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:95105800-95119600	Weak transcription	Brain Germinal Matrix	brain
12	chr5:95105800-95122200	Weak transcription	Fetal Brain Female	brain
13	chr5:95106400-95127400	Weak transcription	Fetal Brain Male	brain
14	chr5:95107200-95122400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:95109600-95120400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr5:95109600-95123800	Weak transcription	HepG2	liver
17	chr5:95110400-95120200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:95111800-95120800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:95112200-95118200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr5:95114400-95118400	Genic enhancers	Placenta	Placenta
21	chr5:95115000-95130200	Strong transcription	K562	blood
22	chr5:95115200-95121400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:95115400-95120400	Weak transcription	Psoas Muscle	Psoas
24	chr5:95115400-95120400	Weak transcription	Right Ventricle	heart
25	chr5:95115400-95123800	Weak transcription	Brain Substantia Nigra	brain
26	chr5:95115400-95127600	Weak transcription	Lung	lung
27	chr5:95115400-95127600	Weak transcription	Spleen	Spleen
28	chr5:95115400-95129400	Weak transcription	Pancreas	Pancrea
29	chr5:95115400-95137800	Weak transcription	Right Atrium	heart
30	chr5:95115400-95138600	Weak transcription	Gastric	stomach
31	chr5:95115400-95139000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
33	chr5:95115600-95119400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:95115600-95119400	Weak transcription	Fetal Lung	lung
35	chr5:95115600-95119400	Weak transcription	NH-A	brain
36	chr5:95115600-95134000	Strong transcription	HSMM	muscle
37	chr5:95115800-95133800	Weak transcription	HUVEC	blood vessel
38	chr5:95116200-95118200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr5:95116200-95121000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:95116400-95118200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:95116400-95119400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:95116400-95120000	Weak transcription	HSMMtube	muscle
43	chr5:95116400-95120200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:95116600-95118800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:95116600-95119400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:95116600-95119800	Weak transcription	Hela-S3	cervix
47	chr5:95116800-95119200	Weak transcription	NHDF-Ad	bronchial
48	chr5:95116800-95120400	Strong transcription	Osteobl	bone
49	chr5:95116800-95123800	Weak transcription	Left Ventricle	heart
50	chr5:95117000-95119400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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