Variant report

Variant	rs7574125
Chromosome Location	chr2:48581506-48581507
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48568928..48571039-chr2:48579815..48581773,2	MCF-7	breast:
2	chr2:48578562..48582388-chr2:48582784..48586939,6	K562	blood:
3	chr2:48578681..48582388-chr2:48582784..48586647,4	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10153773	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10174717	0.85[ASN][1000 genomes]
rs10180295	0.82[ASN][1000 genomes]
rs10186237	0.82[ASN][1000 genomes]
rs10193072	0.82[ASN][1000 genomes]
rs10199431	0.88[ASN][1000 genomes]
rs10208124	0.81[ASN][1000 genomes]
rs11676168	0.85[ASN][1000 genomes]
rs11682044	0.83[ASN][1000 genomes]
rs12713009	0.81[ASN][1000 genomes]
rs13003076	0.92[ASN][1000 genomes]
rs13383364	0.81[ASN][1000 genomes]
rs13385535	0.85[ASN][1000 genomes]
rs13387171	0.82[ASN][1000 genomes]
rs13388291	0.81[ASN][1000 genomes]
rs13432998	0.80[ASN][1000 genomes]
rs28806843	0.81[ASN][1000 genomes]
rs28841370	0.92[ASN][1000 genomes]
rs4290706	0.83[ASN][1000 genomes]
rs4411759	0.85[ASN][1000 genomes]
rs4547573	0.81[ASN][1000 genomes]
rs4641990	0.84[ASN][1000 genomes]
rs56352447	0.85[ASN][1000 genomes]
rs57668696	0.89[ASN][1000 genomes]
rs58660534	0.91[ASN][1000 genomes]
rs59264464	0.82[ASN][1000 genomes]
rs59412192	0.82[ASN][1000 genomes]
rs59761994	0.91[ASN][1000 genomes]
rs62136987	0.91[ASN][1000 genomes]
rs62137001	0.91[ASN][1000 genomes]
rs62137002	0.91[ASN][1000 genomes]
rs62137003	0.91[ASN][1000 genomes]
rs62137005	0.91[ASN][1000 genomes]
rs62137006	0.92[ASN][1000 genomes]
rs62137007	0.92[ASN][1000 genomes]
rs62137008	0.89[ASN][1000 genomes]
rs62137009	0.89[ASN][1000 genomes]
rs62138801	0.82[ASN][1000 genomes]
rs6545030	0.86[ASN][1000 genomes]
rs6545034	0.89[ASN][1000 genomes]
rs6545035	0.89[ASN][1000 genomes]
rs6712029	0.86[ASN][1000 genomes]
rs72818493	0.83[ASN][1000 genomes]
rs72820405	0.91[ASN][1000 genomes]
rs72887649	0.83[ASN][1000 genomes]
rs9309152	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv874002	chr2:48547751-48610367	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv874003	chr2:48570509-48619869	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48571200-48605200	Weak transcription	Colonic Mucosa	Colon
2	chr2:48572200-48597000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:48573400-48583200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:48573600-48604000	Weak transcription	Ovary	ovary
5	chr2:48574200-48602000	Weak transcription	Gastric	stomach
6	chr2:48574600-48602000	Weak transcription	Small Intestine	intestine
7	chr2:48574800-48589600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:48574800-48589600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:48576200-48583800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:48576200-48597000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:48576200-48602000	Weak transcription	Lung	lung
12	chr2:48576400-48583800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:48576400-48590000	Weak transcription	Placenta	Placenta
14	chr2:48576600-48595600	Weak transcription	Fetal Brain Female	brain
15	chr2:48576600-48602000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:48577000-48583800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:48577200-48581600	Enhancers	Brain Hippocampus Middle	brain
18	chr2:48577600-48581600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:48577600-48584200	Weak transcription	Thymus	Thymus
20	chr2:48577600-48589600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:48577600-48589600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:48577800-48592400	Weak transcription	Right Atrium	heart
23	chr2:48577800-48602000	Weak transcription	Fetal Kidney	kidney
24	chr2:48577800-48603800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:48578200-48584400	Weak transcription	Fetal Thymus	thymus
26	chr2:48578600-48581600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr2:48578600-48581600	Enhancers	Liver	Liver
28	chr2:48578600-48584600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:48578600-48591000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:48578600-48604800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:48578800-48581600	Enhancers	Adipose Nuclei	Adipose
32	chr2:48578800-48581800	Enhancers	Brain Angular Gyrus	brain
33	chr2:48578800-48585000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr2:48578800-48585000	Enhancers	Primary B cells from peripheral blood	blood
35	chr2:48578800-48589000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:48578800-48589600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:48579000-48583800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:48579000-48586000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:48579000-48589400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:48579000-48595000	Weak transcription	Esophagus	oesophagus
41	chr2:48579000-48595000	Weak transcription	Fetal Stomach	stomach
42	chr2:48579200-48584200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:48579200-48593000	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:48579200-48595400	Weak transcription	Fetal Intestine Large	intestine
45	chr2:48579400-48582600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:48579400-48589800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:48580000-48582000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr2:48580200-48584200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:48580400-48585600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:48580400-48595200	Weak transcription	HSMMtube	muscle

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