Variant report

Variant	rs2568078
Chromosome Location	chr11:8945603-8945604
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8941546..8948177-chr11:8950032..8955141,6	MCF-7	breast:
2	chr11:8718539..8720292-chr11:8944673..8947181,2	K562	blood:
3	chr11:8703292..8705665-chr11:8944636..8946254,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000176029	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10734638	0.95[EUR][1000 genomes]
rs11042099	0.90[EUR][1000 genomes]
rs12796375	0.81[AMR][1000 genomes]
rs1811367	0.95[EUR][1000 genomes]
rs1969627	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2060157	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2568029	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2568035	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2568056	0.93[EUR][1000 genomes]
rs2653558	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2653566	0.94[EUR][1000 genomes]
rs2653574	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2653609	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2653618	0.95[EUR][1000 genomes]
rs2742483	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2742502	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2742549	0.93[EUR][1000 genomes]
rs2742553	0.94[EUR][1000 genomes]
rs34105455	1.00[ASN][1000 genomes]
rs34152382	0.94[EUR][1000 genomes]
rs34371023	0.95[EUR][1000 genomes]
rs34418236	0.80[EUR][1000 genomes]
rs34581555	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34769330	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35563381	0.80[EUR][1000 genomes]
rs35580466	0.95[EUR][1000 genomes]
rs35909878	0.81[EUR][1000 genomes]
rs36100955	0.95[EUR][1000 genomes]
rs36180552	0.81[EUR][1000 genomes]
rs3850934	1.00[ASN][1000 genomes]
rs4061640	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4910068	0.95[EUR][1000 genomes]
rs7110170	0.85[EUR][1000 genomes]
rs7117900	0.94[EUR][1000 genomes]
rs7936201	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7950491	1.00[ASN][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	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
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2568078	C11orf17	Cis_1M	lymphoblastoid	RTeQTL
rs2568078	C11orf17	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8933400-8947800	Weak transcription	Small Intestine	intestine
2	chr11:8934000-8952200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:8934200-8948800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:8936200-8945800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:8936400-8946000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:8936400-8946800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:8936400-8951200	Weak transcription	Right Atrium	heart
8	chr11:8936600-8945800	Weak transcription	Stomach Mucosa	stomach
9	chr11:8936600-8946600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:8936600-8948600	Strong transcription	Fetal Thymus	thymus
11	chr11:8936600-8949000	Strong transcription	Fetal Stomach	stomach
12	chr11:8936600-8954000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:8936800-8947000	Strong transcription	Dnd41	blood
14	chr11:8936800-8947600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:8937000-8947600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:8937000-8948200	Strong transcription	Fetal Brain Female	brain
17	chr11:8937200-8947400	Strong transcription	Thymus	Thymus
18	chr11:8937800-8947400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:8938000-8945800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:8938000-8946400	Strong transcription	Brain Hippocampus Middle	brain
21	chr11:8938000-8946600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:8938000-8946800	Strong transcription	Liver	Liver
23	chr11:8938000-8947400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:8938000-8947600	Strong transcription	Brain Cingulate Gyrus	brain
25	chr11:8938200-8947000	Strong transcription	Brain Anterior Caudate	brain
26	chr11:8938200-8947200	Strong transcription	Brain Germinal Matrix	brain
27	chr11:8938400-8946800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr11:8938600-8946600	Weak transcription	Psoas Muscle	Psoas
29	chr11:8939000-8946200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:8939000-8947400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:8939000-8947600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:8939000-8948200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:8939400-8948200	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:8939400-8948800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:8939600-8947000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:8939800-8947600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:8939800-8947600	Strong transcription	Lung	lung
38	chr11:8940000-8948400	Strong transcription	Spleen	Spleen
39	chr11:8940200-8948600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr11:8940200-8949200	Weak transcription	Primary B cells from cord blood	blood
41	chr11:8940400-8946600	Strong transcription	Fetal Intestine Small	intestine
42	chr11:8940400-8947200	Strong transcription	Fetal Muscle Leg	muscle
43	chr11:8940600-8945800	Strong transcription	Colon Smooth Muscle	Colon
44	chr11:8940800-8946800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:8940800-8947400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:8940800-8949200	Weak transcription	Fetal Heart	heart
47	chr11:8941200-8945800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr11:8941200-8953400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr11:8941200-8956200	Weak transcription	K562	blood
50	chr11:8942000-8946400	Weak transcription	Gastric	stomach

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