Variant report

Variant	rs10515193
Chromosome Location	chr5:74059091-74059092
allele	C/T
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	E2F4	chr5:74058482-74059128	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr5:74058390-74059712	MCF10A-Er-Src	breast:	n/a	chr5:74059396-74059403 chr5:74058562-74058573 chr5:74059530-74059541 chr5:74059396-74059404 chr5:74058970-74058981
3	STAT3	chr5:74058443-74059184	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74058294..74061098-chr5:74061736..74064363,2	K562	blood:

Variant related genes	Relation type
NSA2	TF binding region
ENSG00000164347	Chromatin interaction
ENSG00000164346	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10942720	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11743615	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11747101	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11749240	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12656070	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.93[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55996695	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366412	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62367764	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598653	chr5:73992881-74095542	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10515193	NSA2	cis	cerebellum	SCAN
rs10515193	ANKRA2	cis	cerebellum	SCAN
rs10515193	NSA2	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73982000-74061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:73999800-74060800	Weak transcription	Pancreas	Pancrea
3	chr5:73999800-74062200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:74002600-74061800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:74008400-74060200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr5:74008400-74060200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:74010400-74059600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:74018000-74060800	Weak transcription	Gastric	stomach
9	chr5:74018600-74062000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:74021600-74060800	Weak transcription	Spleen	Spleen
11	chr5:74022000-74060800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:74025000-74062000	Weak transcription	Aorta	Aorta
13	chr5:74044400-74061000	Weak transcription	Fetal Heart	heart
14	chr5:74044400-74061000	Weak transcription	Right Ventricle	heart
15	chr5:74045000-74059600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:74045200-74061800	Weak transcription	Esophagus	oesophagus
17	chr5:74047400-74061800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:74050800-74059200	Strong transcription	Fetal Thymus	thymus
19	chr5:74051000-74059600	Strong transcription	Primary B cells from cord blood	blood
20	chr5:74051200-74060000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:74051400-74059800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:74051400-74060200	Strong transcription	Liver	Liver
23	chr5:74051400-74061200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:74051600-74059600	Strong transcription	Placenta	Placenta
25	chr5:74051600-74059600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr5:74051600-74060000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:74052000-74059200	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr5:74052000-74059600	Strong transcription	Dnd41	blood
29	chr5:74052200-74059400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:74052200-74059400	Strong transcription	Adipose Nuclei	Adipose
31	chr5:74052200-74060400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:74052400-74059200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr5:74052800-74059400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:74052800-74059600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr5:74052800-74060800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:74052800-74061000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:74052800-74061000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:74052800-74061000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:74052800-74061200	Weak transcription	Brain Substantia Nigra	brain
40	chr5:74052800-74062000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:74053000-74059400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:74053600-74060800	Weak transcription	Fetal Stomach	stomach
43	chr5:74053600-74061000	Weak transcription	Fetal Intestine Small	intestine
44	chr5:74053800-74059200	Strong transcription	K562	blood
45	chr5:74054400-74060200	Weak transcription	Fetal Brain Male	brain
46	chr5:74054400-74060200	Weak transcription	Small Intestine	intestine
47	chr5:74054600-74059800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:74054600-74060000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:74054600-74060200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:74054600-74060200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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