Variant report

Variant	rs72936885
Chromosome Location	chr3:49159328-49159329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:49156770-49160180	HepG2	liver:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49146749..49150327-chr3:49159131..49161330,3	K562	blood:
2	chr3:49057883..49060618-chr3:49157462..49160241,4	MCF-7	breast:
3	chr3:49056273..49062188-chr3:49155312..49159947,7	K562	blood:
4	chr3:49064025..49068089-chr3:49156559..49161197,7	MCF-7	breast:
5	chr3:49128926..49138937-chr3:49145476..49160975,31	K562	blood:
6	chr3:49134791..49138406-chr3:49156749..49159761,5	K562	blood:
7	chr3:49157336..49159924-chr3:49160004..49161894,2	MCF-7	breast:
8	chr3:49156732..49159393-chr3:49207552..49211410,3	K562	blood:
9	chr3:49065255..49066813-chr3:49158384..49160945,2	K562	blood:
10	chr3:49157786..49160354-chr3:49162169..49166398,5	MCF-7	breast:
11	chr3:49129847..49133782-chr3:49155056..49162049,12	MCF-7	breast:
12	chr3:49156700..49159998-chr3:49200731..49203876,4	MCF-7	breast:
13	chr3:49151622..49155805-chr3:49155952..49160094,9	K562	blood:
14	chr3:49056021..49057795-chr3:49157491..49159420,2	MCF-7	breast:
15	chr3:49136349..49138833-chr3:49157946..49159756,2	MCF-7	breast:
16	chr3:49128925..49131724-chr3:49157587..49160255,2	MCF-7	breast:
17	chr3:49140522..49142254-chr3:49155638..49159426,3	MCF-7	breast:
18	chr3:49155392..49161176-chr3:49167558..49172640,8	MCF-7	breast:
19	chr3:49144707..49154191-chr3:49155059..49160099,12	MCF-7	breast:
20	chr3:49158149..49166168-chr3:49166363..49171688,12	K562	blood:
21	chr3:49158589..49160627-chr3:49212099..49214336,2	K562	blood:
22	chr3:49159120..49160770-chr3:49163347..49165357,2	MCF-7	breast:
23	chr3:49051266..49053543-chr3:49156986..49159696,2	MCF-7	breast:
24	chr3:49130133..49131650-chr3:49157909..49159837,2	K562	blood:
25	chr3:49155018..49163811-chr3:49167026..49172599,15	MCF-7	breast:

No data

Variant related genes	Relation type
USP19	TF binding region
LAMB2	TF binding region
ENSG00000185909	Chromatin interaction
ENSG00000177352	Chromatin interaction
ENSG00000172053	Chromatin interaction
ENSG00000198218	Chromatin interaction
ENSG00000178035	Chromatin interaction
ENSG00000172046	Chromatin interaction
ENSG00000272434	Chromatin interaction
ENSG00000199032	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000178252	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000207605	Chromatin interaction
ENSG00000172037	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28533514	1.00[AMR][1000 genomes]
rs59249086	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59913304	1.00[AMR][1000 genomes]
rs72922906	1.00[AMR][1000 genomes]
rs72922911	1.00[AMR][1000 genomes]
rs72922921	1.00[AMR][1000 genomes]
rs72932027	1.00[AMR][1000 genomes]
rs72934235	1.00[AMR][1000 genomes]
rs72934780	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876764	chr3:49040462-49245645	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	279 gene(s)	inside rSNPs	diseases
2	nsv834686	chr3:49106047-49270556	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv876765	chr3:49119063-49160671	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49156000-49162600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:49157600-49159400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr3:49158000-49160800	Weak transcription	Fetal Heart	heart
4	chr3:49158200-49169600	Weak transcription	Fetal Brain Male	brain
5	chr3:49158400-49159800	Genic enhancers	Spleen	Spleen
6	chr3:49158400-49169200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:49158600-49159800	Weak transcription	Fetal Kidney	kidney
8	chr3:49158600-49160000	Weak transcription	Ovary	ovary
9	chr3:49158600-49163400	Strong transcription	HMEC	breast
10	chr3:49158600-49164600	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr3:49158600-49164600	Strong transcription	NHLF	lung
12	chr3:49158600-49166600	Strong transcription	Aorta	Aorta
13	chr3:49158600-49167200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:49158600-49167600	Strong transcription	Gastric	stomach
15	chr3:49158600-49168600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:49158600-49168600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:49158600-49168800	Strong transcription	Osteobl	bone
18	chr3:49158800-49159400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:49158800-49159400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:49158800-49159400	Weak transcription	Brain Anterior Caudate	brain
21	chr3:49158800-49159400	Weak transcription	Fetal Intestine Large	intestine
22	chr3:49158800-49159600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:49158800-49159600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:49158800-49159600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr3:49158800-49159600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:49158800-49159600	Enhancers	Fetal Thymus	thymus
27	chr3:49158800-49159800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:49158800-49159800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:49158800-49160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:49158800-49160000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:49158800-49160400	Weak transcription	Psoas Muscle	Psoas
32	chr3:49158800-49160600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:49158800-49160600	Strong transcription	HSMM	muscle
34	chr3:49158800-49162200	Strong transcription	A549	lung
35	chr3:49158800-49162400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:49158800-49162600	Strong transcription	NH-A	brain
37	chr3:49158800-49163400	Strong transcription	HUVEC	blood vessel
38	chr3:49158800-49164000	Strong transcription	NHDF-Ad	bronchial
39	chr3:49158800-49164200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:49158800-49164600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:49158800-49166600	Strong transcription	Fetal Lung	lung
42	chr3:49158800-49167000	Strong transcription	Left Ventricle	heart
43	chr3:49158800-49167800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:49158800-49168000	Strong transcription	Fetal Stomach	stomach
45	chr3:49158800-49168400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:49158800-49168400	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr3:49158800-49168600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:49158800-49168800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:49158800-49169200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr3:49158800-49169200	Weak transcription	Brain Germinal Matrix	brain

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