Variant report

Variant	rs72739664
Chromosome Location	chr1:184940826-184940827
allele	A/G
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:184939347..184942263-chr1:185006471..185008277,2	K562	blood:
2	chr1:184939333..184942142-chr1:184967073..184969585,2	K562	blood:
3	chr1:184908228..184910545-chr1:184939993..184942715,2	K562	blood:
4	chr1:184722529..184725710-chr1:184939808..184943595,3	K562	blood:
5	chr1:184781856..184783372-chr1:184939868..184941552,2	K562	blood:
6	chr1:184940364..184942366-chr1:184944879..184946563,2	K562	blood:
7	chr1:184838337..184841117-chr1:184940485..184942546,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116406	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72739641	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72739653	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72739654	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72739668	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1012048	chr1:184913958-184959967	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184926400-184942600	Weak transcription	Lung	lung
2	chr1:184928800-184941400	Weak transcription	Adipose Nuclei	Adipose
3	chr1:184929000-184941600	Weak transcription	Psoas Muscle	Psoas
4	chr1:184929000-184941600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:184934400-184941000	Enhancers	Fetal Heart	heart
6	chr1:184935800-184941600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:184936000-184941600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:184936000-184942400	Weak transcription	Small Intestine	intestine
9	chr1:184936600-184941400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:184936800-184941800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:184938200-184941000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:184938800-184942600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:184938800-184942600	Weak transcription	Gastric	stomach
14	chr1:184939000-184941600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:184939200-184941200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:184939200-184942000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:184939400-184941000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:184939400-184941000	Enhancers	K562	blood
19	chr1:184939400-184941200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:184939400-184941200	Enhancers	NHEK	skin
21	chr1:184939400-184941400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:184939400-184941600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:184939400-184941800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:184939400-184942000	Enhancers	NH-A	brain
25	chr1:184939600-184942400	Enhancers	Osteobl	bone
26	chr1:184939800-184942000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:184939800-184942200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr1:184940000-184941400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr1:184940000-184941600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr1:184940000-184944200	Active TSS	Stomach Smooth Muscle	stomach
31	chr1:184940200-184941000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:184940200-184941200	Weak transcription	HMEC	breast
33	chr1:184940200-184941600	Enhancers	NHLF	lung
34	chr1:184940200-184944000	Active TSS	Aorta	Aorta
35	chr1:184940400-184941000	Enhancers	Right Atrium	heart
36	chr1:184940400-184941400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:184940400-184941400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:184940400-184941600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:184940400-184941600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:184940400-184941600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:184940400-184941800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:184940400-184942000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:184940400-184942200	Flanking Active TSS	NHDF-Ad	bronchial
44	chr1:184940400-184942600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:184940600-184941000	Enhancers	Primary B cells from cord blood	blood
46	chr1:184940600-184941000	Active TSS	Colon Smooth Muscle	Colon
47	chr1:184940600-184941200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr1:184940600-184941400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:184940600-184941600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:184940600-184941600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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