Variant report

Variant	rs11241910
Chromosome Location	chr5:126128968-126128969
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126111624..126114477-chr5:126126554..126131251,6	K562	blood:
2	chr5:126125295..126130824-chr5:126132329..126136999,5	K562	blood:
3	chr5:126088936..126091657-chr5:126128760..126130440,2	K562	blood:

Variant related genes	Relation type
ENSG00000113368	Chromatin interaction
ENSG00000251072	Chromatin interaction
ENSG00000252185	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11241908	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11741648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11748362	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11748369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12514715	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12523041	0.81[CHB][hapmap];0.86[AFR][1000 genomes]
rs13176550	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13181450	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17598783	0.81[CHB][hapmap];0.80[AFR][1000 genomes]
rs1964723	0.93[EUR][1000 genomes]
rs2036847	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271352	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs2408776	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34433938	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs34740558	0.86[ASN][1000 genomes]
rs35036110	0.82[ASN][1000 genomes]
rs35091677	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35137067	0.82[ASN][1000 genomes]
rs35156477	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35500127	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35991959	0.81[ASN][1000 genomes]
rs3805738	0.94[CEU][hapmap];0.89[CHB][hapmap];0.86[EUR][1000 genomes]
rs3805744	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3828699	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57812062	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62391707	0.82[ASN][1000 genomes]
rs6595736	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6595738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67386870	0.85[ASN][1000 genomes]
rs6873056	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6873780	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874037	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6894559	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72798244	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7708419	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7709312	0.84[AMR][1000 genomes];0.91[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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases
3	nsv916675	chr5:126122436-126133000	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	nsv533306	chr5:126122436-126137162	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126114600-126141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126114600-126142000	Weak transcription	Spleen	Spleen
3	chr5:126114600-126161600	Weak transcription	Ovary	ovary
4	chr5:126115000-126140400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:126115800-126131800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:126115800-126137400	Weak transcription	HSMM	muscle
7	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:126116000-126141600	Weak transcription	Fetal Stomach	stomach
9	chr5:126116400-126130000	Weak transcription	Fetal Lung	lung
10	chr5:126116400-126137000	Weak transcription	Primary T cells from cord blood	blood
11	chr5:126116400-126140000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:126116400-126140200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:126116400-126140200	Weak transcription	Thymus	Thymus
14	chr5:126116400-126141000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:126116400-126143400	Weak transcription	Primary B cells from cord blood	blood
16	chr5:126116600-126131400	Weak transcription	Fetal Intestine Small	intestine
17	chr5:126116600-126140000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:126116600-126147800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:126117000-126135000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:126117000-126140800	Weak transcription	Fetal Brain Female	brain
21	chr5:126117800-126141200	Weak transcription	Brain Germinal Matrix	brain
22	chr5:126118000-126137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:126121000-126132400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:126122600-126141000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:126123000-126132000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:126123000-126132000	Weak transcription	Hela-S3	cervix
27	chr5:126124000-126133200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:126124000-126140200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:126124200-126140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:126124400-126129200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:126124400-126129600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:126124400-126135200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:126124400-126140400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:126124600-126129800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:126124800-126130000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:126124800-126133600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:126124800-126137000	Weak transcription	NHLF	lung
38	chr5:126125000-126129600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:126125400-126129800	Weak transcription	Fetal Heart	heart
40	chr5:126125400-126133200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:126125400-126135600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:126125400-126135800	Weak transcription	K562	blood
43	chr5:126125400-126136000	Weak transcription	NHDF-Ad	bronchial
44	chr5:126125400-126137000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:126125400-126146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr5:126125600-126140400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr5:126125800-126130200	Weak transcription	HepG2	liver
48	chr5:126126600-126133400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:126127400-126130400	Enhancers	Primary B cells from peripheral blood	blood
50	chr5:126127600-126131000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links