Variant report

Variant	rs72933702
Chromosome Location	chr1:79088594-79088595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr1:79088311-79088695	GM12878	blood:	n/a	n/a
2	CHD1	chr1:79087922-79088616	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:79087648-79089059	GM12878	blood:	n/a	n/a
4	MXI1	chr1:79088312-79088608	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:79088136-79090965	GM12878	blood:	n/a	n/a
6	SIN3A	chr1:79088357-79088933	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:79084977-79091295	GM12891	blood:	n/a	n/a
8	POLR2A	chr1:79088072-79088820	GM12878	blood:	n/a	n/a
9	RUNX3	chr1:79088134-79088594	GM12878	blood:	n/a	n/a
10	EBF1	chr1:79088255-79088672	GM12878	blood:	n/a	n/a
11	TBP	chr1:79088256-79088640	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:79088280-79088622	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:79088114-79088778	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
IFI44L	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12088246	1.00[EUR][1000 genomes]
rs57564445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61324182	1.00[EUR][1000 genomes]
rs72935616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72935624	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7513319	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517603	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830315	chr1:79008443-79200591	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79085000-79089000	Active TSS	Right Atrium	heart
2	chr1:79085200-79090000	Active TSS	Left Ventricle	heart
3	chr1:79085400-79088600	Active TSS	Brain Angular Gyrus	brain
4	chr1:79085400-79089400	Active TSS	Ovary	ovary
5	chr1:79085600-79089200	Active TSS	Fetal Muscle Leg	muscle
6	chr1:79085600-79089400	Weak transcription	Small Intestine	intestine
7	chr1:79085800-79088800	Active TSS	Brain Hippocampus Middle	brain
8	chr1:79085800-79089400	Active TSS	GM12878-XiMat	blood
9	chr1:79086200-79088600	Active TSS	Fetal Thymus	thymus
10	chr1:79086400-79089400	Weak transcription	Aorta	Aorta
11	chr1:79086600-79091200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:79086800-79090600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:79086800-79090800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:79086800-79090800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr1:79086800-79092200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:79086800-79092800	Weak transcription	NHDF-Ad	bronchial
17	chr1:79086800-79092800	Weak transcription	Osteobl	bone
18	chr1:79086800-79108800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:79087200-79089200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:79087200-79089600	Active TSS	Adipose Nuclei	Adipose
21	chr1:79087200-79097400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:79087600-79088800	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr1:79087600-79089000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:79087600-79089200	Weak transcription	Right Ventricle	heart
25	chr1:79087800-79088600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr1:79087800-79088600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:79087800-79088600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:79087800-79088800	Active TSS	Brain Substantia Nigra	brain
29	chr1:79087800-79089000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr1:79087800-79089600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:79088000-79088600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr1:79088000-79088600	Enhancers	Thymus	Thymus
33	chr1:79088000-79088800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:79088000-79088800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:79088200-79088600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:79088200-79088600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr1:79088200-79088600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr1:79088200-79088600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:79088200-79088800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr1:79088200-79089000	Enhancers	Dnd41	blood
41	chr1:79088200-79089400	Enhancers	Primary B cells from peripheral blood	blood
42	chr1:79088400-79088600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:79088400-79088600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr1:79088400-79088600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr1:79088400-79088600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr1:79088400-79088800	Active TSS	Duodenum Mucosa	Duodenum
47	chr1:79088400-79088800	Active TSS	Psoas Muscle	Psoas
48	chr1:79088400-79089400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr1:79088400-79089600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:79088400-79094000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links