Variant report

Variant	rs73853995
Chromosome Location	chr4:148907613-148907614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10519927	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10519934	0.90[AFR][1000 genomes]
rs17024031	1.00[AMR][1000 genomes]
rs17024193	0.81[AFR][1000 genomes]
rs17024201	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2635265	1.00[AMR][1000 genomes]
rs41515750	1.00[AMR][1000 genomes]
rs4393981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55657699	1.00[AMR][1000 genomes]
rs55771362	1.00[AMR][1000 genomes]
rs55881523	0.98[AFR][1000 genomes]
rs56280979	0.88[AFR][1000 genomes]
rs56320153	0.96[AFR][1000 genomes]
rs56756471	1.00[AMR][1000 genomes]
rs57544959	1.00[AMR][1000 genomes]
rs58028291	1.00[AMR][1000 genomes]
rs58710671	0.86[AFR][1000 genomes]
rs60201372	0.80[AFR][1000 genomes]
rs60280395	1.00[AMR][1000 genomes]
rs60361452	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60770463	1.00[AMR][1000 genomes]
rs61300612	1.00[AMR][1000 genomes]
rs73853987	1.00[AMR][1000 genomes]
rs73853992	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148866400-148927400	Weak transcription	Thymus	Thymus
2	chr4:148885600-148939000	Weak transcription	Pancreas	Pancrea
3	chr4:148885800-148912800	Weak transcription	Fetal Lung	lung
4	chr4:148886000-148917600	Weak transcription	Esophagus	oesophagus
5	chr4:148889200-148936200	Weak transcription	Fetal Intestine Large	intestine
6	chr4:148891600-148912800	Weak transcription	Fetal Kidney	kidney
7	chr4:148891600-148920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:148891600-148928000	Weak transcription	A549	lung
9	chr4:148896600-148928400	Weak transcription	Spleen	Spleen
10	chr4:148897200-148917600	Weak transcription	Lung	lung
11	chr4:148898200-148920600	Weak transcription	NHEK	skin
12	chr4:148898200-148925400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:148900800-148911400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:148902000-148908400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:148903000-148911200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:148903200-148914800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:148903400-148914600	Weak transcription	HSMMtube	muscle
18	chr4:148903400-148914800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:148903400-148915000	Weak transcription	Osteobl	bone
20	chr4:148905600-148908600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:148905800-148908600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:148905800-148908800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr4:148905800-148908800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:148905800-148909800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:148905800-148912000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:148905800-148918000	Weak transcription	Stomach Mucosa	stomach
27	chr4:148906000-148907800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:148906000-148907800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:148906000-148908600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:148906000-148909800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr4:148906000-148912600	Weak transcription	Fetal Heart	heart
32	chr4:148906000-148925200	Weak transcription	Adipose Nuclei	Adipose
33	chr4:148906400-148928400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:148906600-148907800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr4:148906600-148912400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:148906600-148917600	Weak transcription	Gastric	stomach
37	chr4:148906600-148920600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:148906600-148920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:148906600-148920800	Weak transcription	Fetal Intestine Small	intestine
40	chr4:148906800-148908400	Weak transcription	GM12878-XiMat	blood
41	chr4:148906800-148908600	Weak transcription	Right Atrium	heart
42	chr4:148906800-148909000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:148906800-148912600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:148906800-148915000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:148906800-148918000	Weak transcription	NHLF	lung
46	chr4:148907000-148908600	Weak transcription	Left Ventricle	heart
47	chr4:148907000-148912000	Weak transcription	Right Ventricle	heart
48	chr4:148907000-148912400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:148907000-148914600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:148907200-148909000	Weak transcription	Brain Anterior Caudate	brain

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