Variant report

Variant	rs59792175
Chromosome Location	chr11:66326297-66326298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66324925..66326614-chr11:66329885..66331523,2	MCF-7	breast:
2	chr11:66320797..66323676-chr11:66324409..66326374,2	MCF-7	breast:
3	chr11:66325723..66328064-chr11:66383615..66385386,2	K562	blood:
4	chr11:66311873..66314750-chr11:66320969..66327300,6	K562	blood:
5	chr11:66325010..66327957-chr11:66384615..66387418,2	K562	blood:
6	chr11:66311617..66317579-chr11:66325496..66333927,8	MCF-7	breast:
7	chr11:66317473..66319701-chr11:66325756..66327731,2	K562	blood:

Variant related genes	Relation type
ENSG00000248746	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000248643	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11227491	1.00[AMR][1000 genomes]
rs17849480	1.00[AMR][1000 genomes]
rs17850564	1.00[AMR][1000 genomes]
rs478807	0.83[AFR][1000 genomes]
rs527550	0.83[AFR][1000 genomes]
rs55955243	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55962689	1.00[AMR][1000 genomes]
rs56146874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56177555	1.00[AMR][1000 genomes]
rs56194916	1.00[AMR][1000 genomes]
rs56244360	1.00[AMR][1000 genomes]
rs56291132	1.00[AMR][1000 genomes]
rs56380786	1.00[AMR][1000 genomes]
rs56790408	1.00[AMR][1000 genomes]
rs57113976	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57412357	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58447882	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58527779	1.00[AMR][1000 genomes]
rs58883837	1.00[AMR][1000 genomes]
rs59057733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59213528	1.00[AMR][1000 genomes]
rs61675228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs648491	0.83[AFR][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	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer 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 target site	94 gene(s)	inside rSNPs	diseases
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv897788	chr11:66319262-66347850	Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66314400-66327000	Weak transcription	Right Atrium	heart
2	chr11:66314800-66326600	Weak transcription	Psoas Muscle	Psoas
3	chr11:66319000-66337800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:66321400-66330400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:66321400-66331600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:66321800-66326400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:66321800-66326400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:66321800-66326400	Weak transcription	Gastric	stomach
9	chr11:66322600-66331400	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr11:66323600-66326400	Weak transcription	Pancreas	Pancrea
11	chr11:66324800-66326400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:66324800-66326400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
13	chr11:66325000-66326400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:66325000-66326600	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr11:66325000-66329200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:66325400-66327800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:66325800-66326400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:66325800-66326800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:66326000-66328000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:66326200-66326400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
21	chr11:66326200-66326600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
22	chr11:66326200-66326600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr11:66326200-66326600	Bivalent Enhancer	Brain Germinal Matrix	brain
24	chr11:66326200-66326600	Enhancers	Colon Smooth Muscle	Colon
25	chr11:66326200-66326800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
26	chr11:66326200-66326800	Bivalent Enhancer	Fetal Intestine Small	intestine
27	chr11:66326200-66326800	Enhancers	Rectal Smooth Muscle	rectum
28	chr11:66326200-66327000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
29	chr11:66326200-66327200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr11:66326200-66327400	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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