Variant report

Variant	rs72818699
Chromosome Location	chr5:178693464-178693465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17079267	0.93[EUR][1000 genomes]
rs17079284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885424	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024560	chr5:178415364-178917595	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv537975	chr5:178415364-178917595	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1033597	chr5:178423101-178752095	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv482352	chr5:178525060-178697496	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1016097	chr5:178544084-178866001	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1026968	chr5:178545479-178865895	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv537976	chr5:178545479-178865895	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv600496	chr5:178552518-178752351	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv883228	chr5:178604465-178796142	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv883231	chr5:178614867-178813207	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv830558	chr5:178624391-178805604	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv883232	chr5:178626437-178805612	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1018641	chr5:178627012-178911254	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv537978	chr5:178627012-178911254	Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv462576	chr5:178645310-178698709	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv600498	chr5:178645310-178698709	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv462577	chr5:178645310-178706162	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv600499	chr5:178645310-178706162	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv462578	chr5:178659691-178713712	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv600500	chr5:178659691-178713712	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
23	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
24	nsv531996	chr5:178669297-178989687	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
25	nsv883233	chr5:178675065-178746447	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv883234	chr5:178686438-178728830	Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178688600-178695200	Enhancers	Spleen	Spleen
2	chr5:178690400-178694400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:178690600-178694400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:178691000-178703600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr5:178691000-178705000	Enhancers	NHDF-Ad	bronchial
6	chr5:178691200-178694200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:178691600-178693800	Enhancers	Fetal Brain Male	brain
8	chr5:178691600-178694600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:178691600-178694600	Enhancers	Fetal Lung	lung
10	chr5:178691600-178694800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:178691600-178707000	Enhancers	Ovary	ovary
12	chr5:178691800-178693600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:178691800-178693600	Enhancers	Aorta	Aorta
14	chr5:178691800-178694600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:178691800-178694600	Enhancers	Right Ventricle	heart
16	chr5:178691800-178694800	Enhancers	Right Atrium	heart
17	chr5:178691800-178695800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr5:178692000-178693600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:178692000-178693600	Enhancers	Left Ventricle	heart
20	chr5:178692000-178693800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr5:178692000-178693800	Enhancers	Fetal Heart	heart
22	chr5:178692000-178693800	Bivalent Enhancer	Fetal Intestine Large	intestine
23	chr5:178692000-178694000	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr5:178692000-178694200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:178692000-178694800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:178692000-178704400	Enhancers	Placenta	Placenta
27	chr5:178692000-178711800	Weak transcription	Gastric	stomach
28	chr5:178692200-178693600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:178692200-178693600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:178692200-178693600	Enhancers	Stomach Mucosa	stomach
31	chr5:178692200-178693800	Enhancers	Brain Angular Gyrus	brain
32	chr5:178692200-178694000	Enhancers	Brain Substantia Nigra	brain
33	chr5:178692200-178694600	Enhancers	Psoas Muscle	Psoas
34	chr5:178692400-178693600	Enhancers	Colonic Mucosa	Colon
35	chr5:178692400-178693600	Enhancers	Fetal Thymus	thymus
36	chr5:178692400-178693800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr5:178692400-178694000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:178692400-178694200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:178692400-178694600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:178692400-178699400	Enhancers	Fetal Muscle Leg	muscle
41	chr5:178692600-178693800	Enhancers	NH-A	brain
42	chr5:178692600-178694800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:178692600-178695600	Enhancers	Adipose Nuclei	Adipose
44	chr5:178692600-178698600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr5:178692600-178699000	Weak transcription	Pancreas	Pancrea
46	chr5:178692800-178693600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:178692800-178693800	Bivalent Enhancer	Fetal Intestine Small	intestine
48	chr5:178693000-178693600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr5:178693000-178693600	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr5:178693000-178693600	Enhancers	Fetal Kidney	kidney

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