Variant report

Variant	rs72896248
Chromosome Location	chr11:6401526-6401527
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:6398714..6402788-chr11:6492263..6496580,6	K562	blood:
2	chr11:6398714..6402192-chr11:6493478..6496580,5	K562	blood:
3	chr11:6399787..6402343-chr11:6476528..6478169,2	MCF-7	breast:
4	chr11:6400453..6402201-chr11:6403811..6406719,2	K562	blood:

Variant related genes	Relation type
ENSG00000110171	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11040879	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11040880	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11040883	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603081	1.00[ASN][1000 genomes]
rs11604636	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417813	1.00[ASN][1000 genomes]
rs34995289	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758097	1.00[ASN][1000 genomes]
rs4758415	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896245	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72896249	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72896251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896262	1.00[ASN][1000 genomes]
rs7931364	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932237	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934983	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935228	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935950	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7937560	1.00[ASN][1000 genomes]
rs7940008	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950901	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv534152	chr11:6282812-6659230	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1046995	chr11:6339868-6658766	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv553371	chr11:6395690-6434465	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6393400-6401600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr11:6393400-6401800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:6397400-6401600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:6397400-6401800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:6397800-6401800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:6399000-6402000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr11:6400200-6409600	Weak transcription	Colonic Mucosa	Colon
8	chr11:6400400-6402400	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:6400400-6402600	Enhancers	Brain Hippocampus Middle	brain
10	chr11:6400400-6408600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:6400600-6403000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:6400600-6408200	Weak transcription	Stomach Mucosa	stomach
13	chr11:6400600-6408800	Weak transcription	HUVEC	blood vessel
14	chr11:6400800-6402200	Enhancers	Fetal Thymus	thymus
15	chr11:6400800-6406400	Weak transcription	Primary T cells from cord blood	blood
16	chr11:6400800-6410800	Weak transcription	Primary B cells from cord blood	blood
17	chr11:6401000-6402600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:6401200-6402600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr11:6401200-6406400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:6401200-6406600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:6401400-6402600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr11:6401400-6406200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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