Variant report

Variant	rs72822583
Chromosome Location	chr5:178981060-178981061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178979685..178981544-chr5:178981841..178984975,3	K562	blood:
2	chr5:178975440..178984076-chr5:179047224..179053131,17	K562	blood:
3	chr5:178979685..178981490-chr5:178983248..178984975,2	K562	blood:
4	chr5:178979256..178982161-chr5:178989561..178991785,2	K562	blood:
5	chr5:178980836..178983768-chr5:179095589..179098241,2	MCF-7	breast:
6	chr5:178975871..178983601-chr5:179047224..179052413,15	K562	blood:
7	chr5:178978852..178982589-chr5:179047122..179052388,6	MCF-7	breast:
8	chr5:178976021..178979527-chr5:178979544..178984972,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169045	Chromatin interaction
ENSG00000176783	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs28378614	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
6	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
7	nsv1022509	chr5:178950829-179002751	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
10	nsv1015477	chr5:178954409-179016804	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv883272	chr5:178961872-179031595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv1028236	chr5:178962087-179019981	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178978600-178981200	Enhancers	Left Ventricle	heart
2	chr5:178978600-178981400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:178978600-178981600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:178978600-178986000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:178978800-178981200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:178978800-178981800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr5:178978800-178985600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:178978800-178985600	Weak transcription	Fetal Brain Female	brain
9	chr5:178978800-178986000	Weak transcription	Aorta	Aorta
10	chr5:178978800-178986200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:178979000-178981200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:178979000-178981200	Enhancers	Thymus	Thymus
13	chr5:178979000-178981400	Enhancers	Esophagus	oesophagus
14	chr5:178979000-178981600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:178979000-178981600	Enhancers	NH-A	brain
16	chr5:178979000-178985600	Weak transcription	HSMM	muscle
17	chr5:178979200-178981200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr5:178979200-178981200	Enhancers	Brain Angular Gyrus	brain
19	chr5:178979200-178981200	Genic enhancers	Fetal Intestine Small	intestine
20	chr5:178979200-178981400	Enhancers	Spleen	Spleen
21	chr5:178979200-178981600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:178979200-178981600	Enhancers	HUVEC	blood vessel
23	chr5:178979400-178981200	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr5:178979400-178981200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr5:178979400-178981200	Enhancers	Pancreas	Pancrea
26	chr5:178979400-178981200	Enhancers	NHDF-Ad	bronchial
27	chr5:178979400-178985600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:178979600-178981200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:178979600-178981200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:178979600-178981200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:178979600-178981200	Enhancers	Brain Substantia Nigra	brain
32	chr5:178979600-178981200	Enhancers	Rectal Smooth Muscle	rectum
33	chr5:178979600-178981200	Enhancers	K562	blood
34	chr5:178979600-178981200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr5:178979600-178981400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr5:178979600-178981400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:178979600-178981600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:178979600-178981600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr5:178979600-178981600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:178979600-178984800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:178979600-178984800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:178979600-178985600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:178979600-178985600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:178979600-178985800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:178979600-178986000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:178979800-178981400	Enhancers	Hela-S3	cervix
47	chr5:178979800-178981600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:178979800-178981600	Strong transcription	Fetal Stomach	stomach
49	chr5:178979800-178986000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:178980000-178981200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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