Variant report

Variant	rs72871133
Chromosome Location	chr4:78874640-78874641
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:2819382..2822249-chr4:78873514..78875877,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265864	Chromatin interaction
ENSG00000167978	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs57475713	1.00[AFR][1000 genomes]
rs59140464	1.00[AFR][1000 genomes]
rs59434555	1.00[AFR][1000 genomes]
rs59926102	1.00[AFR][1000 genomes]
rs60243365	1.00[AFR][1000 genomes]
rs72864981	1.00[AFR][1000 genomes]
rs72868204	1.00[AFR][1000 genomes]
rs72869523	1.00[AFR][1000 genomes]
rs72869526	1.00[AFR][1000 genomes]
rs72869551	1.00[AFR][1000 genomes]
rs72869567	1.00[AFR][1000 genomes]
rs72869576	1.00[AFR][1000 genomes]
rs72869581	1.00[AFR][1000 genomes]
rs72869595	1.00[AFR][1000 genomes]
rs72869597	1.00[AFR][1000 genomes]
rs72871103	1.00[AFR][1000 genomes]
rs72871112	1.00[AFR][1000 genomes]
rs72871117	1.00[AFR][1000 genomes]
rs72871118	1.00[AFR][1000 genomes]
rs72871124	1.00[AFR][1000 genomes]
rs72871136	1.00[AFR][1000 genomes]
rs72871138	1.00[AFR][1000 genomes]
rs72871155	1.00[AFR][1000 genomes]
rs72871157	1.00[AFR][1000 genomes]
rs72871162	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78806000-78881000	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:78806600-78875600	Weak transcription	Colonic Mucosa	Colon
3	chr4:78809600-78881200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:78816400-78876000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:78816600-78875800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:78830400-78877000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:78849400-78876600	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:78849600-78881000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:78850200-78881000	Weak transcription	A549	lung
10	chr4:78852000-78881200	Weak transcription	Lung	lung
11	chr4:78852600-78878200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:78853200-78878000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:78853200-78880800	Weak transcription	Osteobl	bone
14	chr4:78853200-78881000	Weak transcription	Brain Anterior Caudate	brain
15	chr4:78853800-78876400	Weak transcription	Fetal Heart	heart
16	chr4:78853800-78877600	Weak transcription	NHEK	skin
17	chr4:78854200-78877800	Weak transcription	HSMMtube	muscle
18	chr4:78859400-78879000	Weak transcription	Small Intestine	intestine
19	chr4:78860000-78877800	Weak transcription	Esophagus	oesophagus
20	chr4:78860600-78877400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:78863400-78880800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:78864000-78876400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:78865000-78875600	Weak transcription	Fetal Brain Male	brain
24	chr4:78865600-78876600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:78865600-78877600	Weak transcription	Fetal Stomach	stomach
26	chr4:78865800-78875800	Weak transcription	HMEC	breast
27	chr4:78865800-78881000	Weak transcription	Psoas Muscle	Psoas
28	chr4:78866200-78875600	Weak transcription	Thymus	Thymus
29	chr4:78866600-78875000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:78866800-78877800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:78866800-78881000	Weak transcription	Fetal Kidney	kidney
32	chr4:78867000-78875800	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:78867200-78877600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:78867600-78875800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:78867600-78876400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:78868600-78881000	Weak transcription	Brain Angular Gyrus	brain
37	chr4:78869000-78875600	Weak transcription	NHLF	lung
38	chr4:78869000-78879600	Weak transcription	Spleen	Spleen
39	chr4:78869600-78877600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr4:78870200-78876200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr4:78870400-78877200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:78870400-78881000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:78870600-78876600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:78870800-78876400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:78870800-78876600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr4:78871000-78875800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:78871000-78876200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:78871000-78876200	Strong transcription	Liver	Liver
49	chr4:78871000-78878000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:78871000-78878600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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