Variant report

Variant	rs73253463
Chromosome Location	chr5:114546634-114546635
allele	G/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	CEBPB	chr5:114546595-114546795	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114545341..114547918-chr5:114548363..114550045,2	K562	blood:

Variant related genes	Relation type
ENSG00000248175	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs17132480	1.00[AFR][1000 genomes]
rs17137549	1.00[AFR][1000 genomes]
rs17137556	1.00[AFR][1000 genomes]
rs17137563	1.00[AFR][1000 genomes]
rs35940728	0.92[AFR][1000 genomes]
rs57979677	0.82[AFR][1000 genomes]
rs58955791	1.00[AFR][1000 genomes]
rs59891755	0.92[AFR][1000 genomes]
rs59955726	1.00[AFR][1000 genomes]
rs60460575	1.00[AFR][1000 genomes]
rs73253428	0.84[AFR][1000 genomes]
rs73253432	1.00[AFR][1000 genomes]
rs73253434	1.00[AFR][1000 genomes]
rs73253440	1.00[AFR][1000 genomes]
rs73253466	1.00[AFR][1000 genomes]
rs73255427	1.00[AFR][1000 genomes]
rs73255447	1.00[AFR][1000 genomes]
rs73255479	1.00[AFR][1000 genomes]
rs73255484	1.00[AFR][1000 genomes]
rs73255489	1.00[AFR][1000 genomes]
rs73255491	1.00[AFR][1000 genomes]
rs73255494	1.00[AFR][1000 genomes]
rs73255498	1.00[AFR][1000 genomes]
rs73257403	0.96[AFR][1000 genomes]
rs73257406	1.00[AFR][1000 genomes]
rs73257411	0.93[AFR][1000 genomes]
rs73257413	1.00[AFR][1000 genomes]
rs73257417	0.93[AFR][1000 genomes]
rs73257425	1.00[AFR][1000 genomes]
rs73257437	1.00[AFR][1000 genomes]
rs73257446	0.92[AFR][1000 genomes]
rs73257462	0.92[AFR][1000 genomes]
rs73257485	0.92[AFR][1000 genomes]
rs73257491	0.85[AFR][1000 genomes]
rs73257494	0.85[AFR][1000 genomes]
rs73259410	0.85[AFR][1000 genomes]
rs73259416	0.85[AFR][1000 genomes]
rs73259426	0.85[AFR][1000 genomes]
rs7703973	1.00[AFR][1000 genomes]
rs7711888	1.00[AFR][1000 genomes]
rs7724266	1.00[AFR][1000 genomes]
rs7725609	1.00[AFR][1000 genomes]
rs7726219	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830454	chr5:114453864-114607159	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv970018	chr5:114541040-114547642	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv1029371	chr5:114541428-114590891	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv980715	chr5:114545011-114548142	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114523400-114576200	Weak transcription	Psoas Muscle	Psoas
2	chr5:114528000-114563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:114529200-114562600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:114529800-114551000	Weak transcription	Left Ventricle	heart
5	chr5:114530200-114562600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:114530200-114562600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:114530600-114548600	Weak transcription	Fetal Intestine Large	intestine
8	chr5:114530600-114594400	Weak transcription	Pancreas	Pancrea
9	chr5:114530800-114548000	Weak transcription	Adipose Nuclei	Adipose
10	chr5:114530800-114565200	Weak transcription	NHDF-Ad	bronchial
11	chr5:114531000-114547600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:114531000-114551200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:114531000-114558800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:114531200-114548200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:114532000-114547000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:114533600-114551200	Weak transcription	HSMM	muscle
17	chr5:114533800-114549000	Weak transcription	Aorta	Aorta
18	chr5:114535200-114551200	Weak transcription	HSMMtube	muscle
19	chr5:114536000-114556000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:114538200-114548600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:114538200-114551800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:114538400-114548000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:114538400-114548200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:114538400-114567000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:114538400-114572000	Weak transcription	Lung	lung
26	chr5:114538600-114555200	Weak transcription	Placenta	Placenta
27	chr5:114538800-114550800	Weak transcription	Fetal Stomach	stomach
28	chr5:114539200-114580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:114539400-114547400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:114539400-114548000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr5:114539800-114566000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:114540200-114546800	Weak transcription	HMEC	breast
33	chr5:114540800-114567600	Weak transcription	Hela-S3	cervix
34	chr5:114541000-114562000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr5:114541200-114548000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:114541400-114548200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:114541600-114551200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:114541800-114548800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:114541800-114549000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:114541800-114573400	Weak transcription	NHLF	lung
41	chr5:114542000-114575800	Weak transcription	Small Intestine	intestine
42	chr5:114542600-114549000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:114543200-114548800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:114543400-114548600	Weak transcription	Ovary	ovary
45	chr5:114543400-114549800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:114543600-114548000	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:114543600-114551200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:114543600-114551200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:114543600-114558800	Weak transcription	NH-A	brain
50	chr5:114543600-114562400	Weak transcription	HUVEC	blood vessel

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