Variant report

Variant	rs72896319
Chromosome Location	chr4:99247564-99247565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs28651913	1.00[EUR][1000 genomes]
rs2866008	1.00[EUR][1000 genomes]
rs28683554	1.00[EUR][1000 genomes]
rs34392334	1.00[AMR][1000 genomes]
rs58408865	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58485619	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58977062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59516498	1.00[EUR][1000 genomes]
rs59929475	1.00[EUR][1000 genomes]
rs60266816	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60470511	1.00[EUR][1000 genomes]
rs61041466	1.00[EUR][1000 genomes]
rs72883608	1.00[EUR][1000 genomes]
rs72883610	1.00[EUR][1000 genomes]
rs72883612	1.00[EUR][1000 genomes]
rs72883618	1.00[EUR][1000 genomes]
rs72892327	1.00[EUR][1000 genomes]
rs72892332	1.00[EUR][1000 genomes]
rs72892346	1.00[EUR][1000 genomes]
rs72892347	1.00[EUR][1000 genomes]
rs72892354	1.00[EUR][1000 genomes]
rs72892355	1.00[EUR][1000 genomes]
rs72892359	1.00[EUR][1000 genomes]
rs72892365	1.00[EUR][1000 genomes]
rs72892368	1.00[EUR][1000 genomes]
rs72892376	1.00[EUR][1000 genomes]
rs72894293	1.00[EUR][1000 genomes]
rs72894299	1.00[EUR][1000 genomes]
rs72894392	1.00[EUR][1000 genomes]
rs72896117	1.00[EUR][1000 genomes]
rs72896309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896358	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896365	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896389	1.00[EUR][1000 genomes]
rs72896392	1.00[EUR][1000 genomes]
rs72898108	1.00[EUR][1000 genomes]
rs72898341	1.00[EUR][1000 genomes]
rs72898343	1.00[EUR][1000 genomes]
rs72898363	1.00[EUR][1000 genomes]
rs72898376	1.00[EUR][1000 genomes]
rs72898388	1.00[EUR][1000 genomes]
rs72898393	1.00[EUR][1000 genomes]
rs72900361	1.00[EUR][1000 genomes]
rs72900365	1.00[EUR][1000 genomes]
rs72900388	1.00[EUR][1000 genomes]
rs72900390	1.00[EUR][1000 genomes]
rs7676778	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1004616	chr4:99085875-99308901	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv879652	chr4:99125659-99303633	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv879653	chr4:99152631-99260423	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv966298	chr4:99241511-99247700	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99210200-99250800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:99212400-99287800	Weak transcription	Thymus	Thymus
3	chr4:99215000-99317000	Weak transcription	Left Ventricle	heart
4	chr4:99219000-99252000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:99223800-99288000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:99225200-99253400	Weak transcription	Fetal Lung	lung
7	chr4:99231200-99249000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr4:99232400-99247800	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:99236600-99264400	Weak transcription	Liver	Liver
10	chr4:99236800-99253400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:99237400-99257400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:99237400-99262000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:99237600-99250000	Weak transcription	HSMM	muscle
14	chr4:99239800-99262000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:99240000-99252000	Weak transcription	Aorta	Aorta
16	chr4:99240400-99248200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:99240400-99248800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:99240400-99264200	Weak transcription	HMEC	breast
19	chr4:99241200-99248800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:99241200-99252200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:99241400-99267000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:99241600-99248800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:99241600-99248800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:99241600-99248800	Weak transcription	Primary B cells from cord blood	blood
25	chr4:99241600-99248800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:99241600-99252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:99241600-99253400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:99241800-99247800	Weak transcription	Dnd41	blood
29	chr4:99245800-99249400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:99247400-99248000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:99247400-99248200	Enhancers	Brain Anterior Caudate	brain

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