Variant report

Variant	rs35563381
Chromosome Location	chr11:8859980-8859981
allele	A/G
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	CEBPB	chr11:8859698-8860070	HepG2	liver:	n/a	n/a
2	GATA3	chr11:8859506-8860630	SK-N-SH	brain:	n/a	chr11:8859793-8859810
3	CEBPB	chr11:8859738-8860014	K562	blood:	n/a	n/a
4	CEBPB	chr11:8859731-8860069	A549	lung:	n/a	n/a
5	CEBPB	chr11:8859729-8859984	H1-hESC	embryonic stem cell:	n/a	n/a
6	STAT3	chr11:8859780-8860023	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr11:8859696-8860184	A549	lung:	n/a	n/a
8	CEBPB	chr11:8859724-8860071	K562	blood:	n/a	n/a
9	CEBPB	chr11:8859687-8860098	IMR90	lung:	n/a	n/a
10	RCOR1	chr11:8859305-8862295	IMR90	lung:	n/a	n/a
11	CEBPB	chr11:8859722-8860060	A549	lung:	n/a	n/a
12	CEBPB	chr11:8859727-8860043	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8856465..8859459-chr11:8859495..8861215,2	MCF-7	breast:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10734638	0.82[EUR][1000 genomes]
rs10840129	0.84[EUR][1000 genomes]
rs11042099	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1811367	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2568029	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2568035	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2568056	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2568078	0.80[EUR][1000 genomes]
rs2653558	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2653566	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2653591	0.82[EUR][1000 genomes]
rs2653618	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2742502	0.81[EUR][1000 genomes]
rs2742549	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2742553	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34023999	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34033747	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34152382	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34275210	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34371023	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34418236	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34581555	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34769330	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35503692	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35580466	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35909878	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36094920	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36100955	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36180552	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3850934	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3915868	0.82[AMR][1000 genomes]
rs4910068	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7117900	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7127197	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7950491	0.92[AMR][1000 genomes];0.96[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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35563381	C11orf17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8845800-8860000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:8851000-8861400	Weak transcription	Brain Substantia Nigra	brain
3	chr11:8851800-8862400	Enhancers	Placenta	Placenta
4	chr11:8852800-8861600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:8853000-8861400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:8854400-8861000	Weak transcription	Pancreas	Pancrea
7	chr11:8854600-8860000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:8854600-8860400	Weak transcription	Gastric	stomach
9	chr11:8854600-8861000	Weak transcription	Lung	lung
10	chr11:8854600-8861400	Weak transcription	A549	lung
11	chr11:8854800-8860600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:8854800-8861000	Weak transcription	Fetal Intestine Small	intestine
13	chr11:8855400-8861000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:8855400-8861000	Weak transcription	Esophagus	oesophagus
15	chr11:8855400-8861000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:8855400-8861800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:8855600-8860000	Weak transcription	Right Ventricle	heart
18	chr11:8855600-8861200	Weak transcription	Hela-S3	cervix
19	chr11:8855800-8861200	Weak transcription	GM12878-XiMat	blood
20	chr11:8855800-8861600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:8856000-8860000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:8856200-8860000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:8856200-8860200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:8856200-8860600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:8856200-8861200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:8856400-8860000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:8856400-8860000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:8856400-8860400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:8856400-8861400	Weak transcription	NHEK	skin
30	chr11:8856600-8861000	Weak transcription	HUVEC	blood vessel
31	chr11:8857200-8860000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:8857600-8861200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:8858600-8862600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr11:8859200-8860000	Enhancers	Stomach Smooth Muscle	stomach
35	chr11:8859200-8860200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:8859200-8862400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:8859200-8862400	Enhancers	NHLF	lung
38	chr11:8859200-8862600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr11:8859200-8862600	Enhancers	Fetal Lung	lung
40	chr11:8859200-8862600	Enhancers	Small Intestine	intestine
41	chr11:8859400-8860000	Enhancers	Left Ventricle	heart
42	chr11:8859400-8860000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr11:8859400-8860200	Enhancers	HSMM	muscle
44	chr11:8859400-8862400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:8859400-8862400	Enhancers	Ovary	ovary
46	chr11:8859400-8862400	Enhancers	Right Atrium	heart
47	chr11:8859400-8862400	Enhancers	Stomach Mucosa	stomach
48	chr11:8859400-8862400	Enhancers	Spleen	Spleen
49	chr11:8859400-8862400	Enhancers	HSMMtube	muscle
50	chr11:8859400-8862600	Enhancers	HMEC	breast

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