Variant report

Variant	rs11826763
Chromosome Location	chr11:17191534-17191535
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	YY1	chr11:17191490-17191831	SK-N-SH	brain:	n/a	chr11:17191636-17191646 chr11:17191629-17191648 chr11:17191624-17191646 chr11:17191635-17191643 chr11:17191634-17191646
2	YY1	chr11:17191502-17191762	GM12891	blood:	n/a	chr11:17191636-17191646 chr11:17191629-17191648 chr11:17191624-17191646 chr11:17191635-17191643 chr11:17191634-17191646
3	YY1	chr11:17191492-17191753	HepG2	liver:	n/a	chr11:17191636-17191646 chr11:17191629-17191648 chr11:17191624-17191646 chr11:17191635-17191643 chr11:17191634-17191646
4	YY1	chr11:17191463-17191795	GM12892	blood:	n/a	chr11:17191636-17191646 chr11:17191629-17191648 chr11:17191624-17191646 chr11:17191635-17191643 chr11:17191634-17191646
5	YY1	chr11:17191460-17191768	H1-hESC	embryonic stem cell:	n/a	chr11:17191636-17191646 chr11:17191629-17191648 chr11:17191624-17191646 chr11:17191635-17191643 chr11:17191634-17191646
6	YY1	chr11:17191450-17191774	GM12878	blood:	n/a	chr11:17191636-17191646 chr11:17191629-17191648 chr11:17191624-17191646 chr11:17191635-17191643 chr11:17191634-17191646
7	YY1	chr11:17191460-17191737	SK-N-SH_RA	brain:	n/a	chr11:17191636-17191646 chr11:17191629-17191648 chr11:17191624-17191646 chr11:17191635-17191643 chr11:17191634-17191646
8	YY1	chr11:17191504-17191727	K562	blood:	n/a	chr11:17191636-17191646 chr11:17191629-17191648 chr11:17191624-17191646 chr11:17191635-17191643 chr11:17191634-17191646

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17190589..17193043-chr11:17228030..17230019,2	MCF-7	breast:
2	chr11:17191444..17193638-chr17:59471300..59473152,2	MCF-7	breast:

Variant related genes	Relation type
PIK3C2A	TF binding region
ENSG00000011405	Chromatin interaction
ENSG00000070081	Chromatin interaction
ENSG00000267280	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10832756	0.88[YRI][hapmap]
rs11820060	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11828594	0.85[AMR][1000 genomes]
rs16924900	1.00[CEU][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs16933829	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16933837	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16933952	0.89[YRI][hapmap]
rs68175505	0.80[EUR][1000 genomes]
rs7110774	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7127347	0.93[YRI][hapmap]
rs7925960	0.80[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	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv7691	chr11:17151593-17196894	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11826763	RPS13	cis	Adipose Subcutaneous	GTEx
rs11826763	NUCB2	cis	lymphoblastoid	seeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
2	chr11:17144200-17192800	Weak transcription	NHDF-Ad	bronchial
3	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
4	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:17167400-17204400	Weak transcription	Thymus	Thymus
7	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
9	chr11:17168200-17193800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
11	chr11:17178800-17195000	Weak transcription	Brain Substantia Nigra	brain
12	chr11:17181400-17194400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:17182000-17196800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:17182200-17196400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:17182200-17196800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:17184200-17191800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:17184400-17193400	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:17184800-17228800	Weak transcription	Esophagus	oesophagus
19	chr11:17185200-17195400	Weak transcription	Gastric	stomach
20	chr11:17185800-17193400	Weak transcription	Ovary	ovary
21	chr11:17185800-17207400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:17185800-17212800	Weak transcription	Pancreas	Pancrea
23	chr11:17186600-17193200	Weak transcription	Placenta	Placenta
24	chr11:17186800-17192200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:17186800-17192800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:17187000-17192800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:17187000-17194800	Weak transcription	Brain Anterior Caudate	brain
28	chr11:17187000-17195000	Weak transcription	Fetal Heart	heart
29	chr11:17187000-17198000	Weak transcription	HMEC	breast
30	chr11:17187000-17212600	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:17187000-17228000	Weak transcription	Colonic Mucosa	Colon
32	chr11:17187200-17192600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:17187200-17192800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:17187200-17193200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:17187200-17194000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:17187200-17195400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr11:17187200-17207200	Weak transcription	K562	blood
38	chr11:17187200-17210000	Weak transcription	Psoas Muscle	Psoas
39	chr11:17187200-17210000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:17187200-17212600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:17187200-17214000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:17187200-17214200	Weak transcription	Right Ventricle	heart
43	chr11:17187200-17226800	Weak transcription	Small Intestine	intestine
44	chr11:17188200-17191800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:17188400-17191600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:17188400-17191600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:17188400-17191800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:17188400-17191800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:17188600-17191800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:17188600-17191800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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