Variant report

Variant	rs72871134
Chromosome Location	chr4:78876471-78876472
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78875922..78877424-chr4:78879284..78881268,2	MCF-7	breast:
2	chr4:78875058..78877167-chr4:78886944..78889062,2	K562	blood:

Variant related genes	Relation type
ENSG00000248926	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56754316	1.00[AFR][1000 genomes]
rs59899206	1.00[AFR][1000 genomes]
rs72864913	1.00[AFR][1000 genomes]
rs72864947	1.00[AFR][1000 genomes]
rs72866657	1.00[AFR][1000 genomes]
rs72866694	1.00[AFR][1000 genomes]
rs72868229	1.00[AFR][1000 genomes]
rs72868232	1.00[AFR][1000 genomes]
rs72868257	1.00[AFR][1000 genomes]
rs72868261	1.00[AFR][1000 genomes]
rs72868270	1.00[AFR][1000 genomes]
rs72868296	1.00[AFR][1000 genomes]
rs72869530	1.00[AFR][1000 genomes]
rs72869540	1.00[AFR][1000 genomes]
rs72869555	1.00[AFR][1000 genomes]
rs72869556	1.00[AFR][1000 genomes]
rs72869579	1.00[AFR][1000 genomes]
rs72869582	1.00[AFR][1000 genomes]
rs72869586	1.00[AFR][1000 genomes]
rs72871123	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1008217	chr4:78777531-78957311	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv537145	chr4:78777531-78957311	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78806000-78881000	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:78809600-78881200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:78830400-78877000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:78849400-78876600	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:78849600-78881000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:78850200-78881000	Weak transcription	A549	lung
7	chr4:78852000-78881200	Weak transcription	Lung	lung
8	chr4:78852600-78878200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:78853200-78878000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:78853200-78880800	Weak transcription	Osteobl	bone
11	chr4:78853200-78881000	Weak transcription	Brain Anterior Caudate	brain
12	chr4:78853800-78877600	Weak transcription	NHEK	skin
13	chr4:78854200-78877800	Weak transcription	HSMMtube	muscle
14	chr4:78859400-78879000	Weak transcription	Small Intestine	intestine
15	chr4:78860000-78877800	Weak transcription	Esophagus	oesophagus
16	chr4:78860600-78877400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:78863400-78880800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:78865600-78876600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:78865600-78877600	Weak transcription	Fetal Stomach	stomach
20	chr4:78865800-78881000	Weak transcription	Psoas Muscle	Psoas
21	chr4:78866800-78877800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:78866800-78881000	Weak transcription	Fetal Kidney	kidney
23	chr4:78867200-78877600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:78868600-78881000	Weak transcription	Brain Angular Gyrus	brain
25	chr4:78869000-78879600	Weak transcription	Spleen	Spleen
26	chr4:78869600-78877600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:78870400-78877200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:78870400-78881000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:78870600-78876600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:78870800-78876600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr4:78871000-78878000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:78871000-78878600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:78871800-78876600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr4:78872000-78878200	Weak transcription	NHDF-Ad	bronchial
35	chr4:78872400-78880800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:78872600-78876600	Strong transcription	Dnd41	blood
37	chr4:78872600-78880800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:78872800-78877000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:78873200-78877400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:78873200-78877400	Weak transcription	Fetal Intestine Small	intestine
41	chr4:78873200-78877400	Weak transcription	HepG2	liver
42	chr4:78873400-78881200	Weak transcription	Left Ventricle	heart
43	chr4:78874200-78881000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:78874200-78884400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr4:78874800-78876600	Weak transcription	GM12878-XiMat	blood
46	chr4:78874800-78877400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:78874800-78881200	Weak transcription	Brain Substantia Nigra	brain
48	chr4:78875000-78877600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr4:78875000-78878200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:78875200-78877600	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links