Variant report

Variant	rs1723483
Chromosome Location	chr2:47401264-47401265
allele	C/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47399756..47406251-chr2:47447036..47455846,12	MCF-7	breast:
2	chr2:47140015..47142222-chr2:47401259..47403402,2	K562	blood:
3	chr2:47399705..47406684-chr2:47448496..47456698,16	K562	blood:
4	chr2:47166915..47170495-chr2:47399445..47404516,7	MCF-7	breast:
5	chr2:47252232..47263251-chr2:47397787..47406051,20	MCF-7	breast:
6	chr2:47400478..47403818-chr2:48008752..48011597,4	K562	blood:
7	chr2:47399705..47405092-chr2:47450546..47458227,19	K562	blood:
8	chr2:47381115..47385095-chr2:47400722..47404896,4	MCF-7	breast:
9	chr2:47260087..47265958-chr2:47400378..47404964,8	K562	blood:
10	chr2:38975839..38978922-chr2:47400598..47403972,4	K562	blood:
11	chr2:47140015..47142269-chr2:47400720..47402759,3	K562	blood:
12	chr2:47220711..47222484-chr2:47400487..47403204,2	MCF-7	breast:
13	chr2:47140743..47148534-chr2:47401019..47406419,10	MCF-7	breast:
14	chr2:47399224..47401292-chr2:47482890..47486794,3	MCF-7	breast:
15	chr2:47142780..47146808-chr2:47401206..47405117,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000068724	Chromatin interaction
ENSG00000116062	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000226087	Chromatin interaction
ENSG00000239605	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000180398	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1353644	0.98[ASN][1000 genomes]
rs1693869	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1723484	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1723493	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2454081	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7596698	0.81[AMR][1000 genomes]
rs815802	0.82[AFR][1000 genomes]
rs815807	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs815811	0.87[ASN][1000 genomes]
rs815815	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs815816	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47367200-47402000	Weak transcription	Esophagus	oesophagus
2	chr2:47387600-47401400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:47387600-47402200	Weak transcription	Gastric	stomach
4	chr2:47387800-47402000	Weak transcription	Pancreas	Pancrea
5	chr2:47389200-47402000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:47390000-47402000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:47394800-47402000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:47396800-47402000	Enhancers	Small Intestine	intestine
9	chr2:47396800-47402600	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr2:47397000-47401400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:47397000-47402000	Weak transcription	Lung	lung
12	chr2:47397600-47401800	Weak transcription	Placenta	Placenta
13	chr2:47397800-47401400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:47398000-47401400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:47398000-47401600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:47398200-47401400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:47398800-47401600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:47399200-47401400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:47399200-47401400	Transcr. at gene 5' and 3'	HSMM	muscle
20	chr2:47399200-47401800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:47399200-47402400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr2:47399200-47404400	Active TSS	HSMMtube	muscle
23	chr2:47399400-47401400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:47399400-47401600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr2:47399400-47401600	Transcr. at gene 5' and 3'	Osteobl	bone
26	chr2:47399400-47402600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:47399400-47402600	Transcr. at gene 5' and 3'	K562	blood
28	chr2:47399600-47401400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:47399600-47401400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:47399800-47401400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr2:47399800-47401400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:47399800-47402000	Enhancers	Primary B cells from peripheral blood	blood
33	chr2:47399800-47402200	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr2:47399800-47402600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:47399800-47404200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:47399800-47404400	Active TSS	Stomach Smooth Muscle	stomach
37	chr2:47400000-47401400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:47400000-47401400	Weak transcription	Left Ventricle	heart
39	chr2:47400000-47401600	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr2:47400000-47401800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr2:47400000-47401800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr2:47400000-47402000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:47400000-47402200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:47400000-47402200	Flanking Active TSS	HUVEC	blood vessel
45	chr2:47400000-47403000	Active TSS	Right Atrium	heart
46	chr2:47400000-47404000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:47400000-47404600	Active TSS	Psoas Muscle	Psoas
48	chr2:47400200-47401400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
49	chr2:47400200-47402200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr2:47400200-47402600	Transcr. at gene 5' and 3'	NHEK	skin

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