Variant report

Variant	rs72929270
Chromosome Location	chr1:70765183-70765184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70759212..70761172-chr1:70763174..70765295,2	MCF-7	breast:
2	chr1:70696137..70698622-chr1:70765060..70767562,2	K562	blood:

Variant related genes	Relation type
ENSG00000116754	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10889867	0.86[AFR][1000 genomes]
rs57480626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59856193	0.86[AFR][1000 genomes]
rs61084750	1.00[AFR][1000 genomes]
rs61493071	1.00[AFR][1000 genomes]
rs72921081	1.00[AFR][1000 genomes]
rs72929267	1.00[AFR][1000 genomes]
rs72929272	1.00[AFR][1000 genomes]
rs72929274	1.00[AFR][1000 genomes]
rs72929275	1.00[AFR][1000 genomes]
rs72929277	1.00[AFR][1000 genomes]
rs72929286	1.00[AFR][1000 genomes]
rs72929291	1.00[AFR][1000 genomes]
rs72929299	1.00[AFR][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	nsv1014292	chr1:70689215-70799065	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1012563	chr1:70753332-70832118	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	esv1792702	chr1:70755511-70818576	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1801665	chr1:70755511-70832053	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70714000-70767000	Weak transcription	HSMMtube	muscle
3	chr1:70715600-70767800	Weak transcription	Small Intestine	intestine
4	chr1:70715800-70771000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:70716000-70775600	Weak transcription	Spleen	Spleen
6	chr1:70716200-70775200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:70716800-70769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:70716800-70769400	Weak transcription	Right Ventricle	heart
9	chr1:70716800-70815800	Weak transcription	Brain Angular Gyrus	brain
10	chr1:70717600-70780400	Weak transcription	Brain Substantia Nigra	brain
11	chr1:70717800-70788200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:70719200-70783800	Weak transcription	A549	lung
13	chr1:70733800-70773400	Weak transcription	Fetal Kidney	kidney
14	chr1:70734000-70769600	Weak transcription	Pancreas	Pancrea
15	chr1:70734000-70786000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:70734400-70786000	Weak transcription	Psoas Muscle	Psoas
17	chr1:70734400-70813000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:70740600-70767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:70744800-70768400	Weak transcription	Stomach Mucosa	stomach
20	chr1:70747000-70769400	Weak transcription	Fetal Heart	heart
21	chr1:70750000-70771800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:70752400-70767800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:70752800-70793400	Weak transcription	Gastric	stomach
24	chr1:70753600-70766600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:70753600-70767800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:70753600-70768800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:70753600-70769000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:70754200-70768800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:70754200-70780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:70754400-70767600	Strong transcription	Dnd41	blood
31	chr1:70754400-70767800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:70754600-70775400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:70755600-70767400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:70755600-70768800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr1:70755800-70775400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:70756600-70767000	Weak transcription	NHEK	skin
37	chr1:70757000-70769200	Weak transcription	Colonic Mucosa	Colon
38	chr1:70757000-70799800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:70757400-70766400	Weak transcription	HepG2	liver
40	chr1:70757400-70768800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:70757400-70813200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:70757800-70786000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:70757800-70799400	Weak transcription	Brain Germinal Matrix	brain
44	chr1:70757800-70812400	Weak transcription	Fetal Brain Male	brain
45	chr1:70759200-70768800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:70759400-70767800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr1:70759400-70785400	Weak transcription	HMEC	breast
48	chr1:70760000-70767000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:70760200-70799800	Weak transcription	Lung	lung
50	chr1:70760400-70802400	Weak transcription	Brain Hippocampus Middle	brain

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