Variant report

Variant	rs613610
Chromosome Location	chr11:93520726-93520727
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	POLR2A	chr11:93520691-93520821	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93462890..93477443-chr11:93512595..93526939,73	K562	blood:
2	chr11:93473309..93475727-chr11:93520593..93523450,3	MCF-7	breast:
3	chr11:93472800..93476056-chr11:93515203..93522725,16	MCF-7	breast:
4	chr11:93459100..93466497-chr11:93514555..93520746,14	K562	blood:

Variant related genes	Relation type
TAF1D	TF binding region
MED17	TF binding region
ENSG00000166012	Chromatin interaction
ENSG00000207112	Chromatin interaction
ENSG00000239195	Chromatin interaction
ENSG00000207145	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000202314	Chromatin interaction
ENSG00000206834	Chromatin interaction
ENSG00000207304	Chromatin interaction
ENSG00000221170	Chromatin interaction
ENSG00000210825	Chromatin interaction
ENSG00000206799	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10831103	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020511	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11020515	0.82[EUR][1000 genomes]
rs11603339	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11603364	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2895508	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs596052	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs607349	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621801	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs635963	0.87[EUR][1000 genomes]
rs643261	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs644306	0.88[ASN][1000 genomes]
rs668546	0.87[EUR][1000 genomes]
rs677867	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs685865	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7310	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs613610	C11orf54	cis	Esophagus Mucosa	GTEx
rs613610	C11orf54	cis	Artery Tibial	GTEx
rs613610	C11orf54	cis	Esophagus Muscularis	GTEx
rs613610	C11orf54	cis	Artery Aorta	GTEx
rs613610	MED17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93517600-93520800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:93518600-93520800	Enhancers	Small Intestine	intestine
3	chr11:93518600-93527800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:93518800-93520800	Transcr. at gene 5' and 3'	Hela-S3	cervix
5	chr11:93518800-93521400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:93519000-93520800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:93519000-93520800	Enhancers	Fetal Heart	heart
8	chr11:93519000-93521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:93519200-93520800	Enhancers	Rectal Smooth Muscle	rectum
10	chr11:93519200-93521000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr11:93519200-93521400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:93519200-93521400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:93519200-93522400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:93519200-93522600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:93519200-93522800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:93519200-93522800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:93519200-93522800	Weak transcription	Gastric	stomach
18	chr11:93519200-93522800	Weak transcription	HSMMtube	muscle
19	chr11:93519200-93523800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:93519200-93523800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:93519200-93527800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:93519200-93527800	Weak transcription	Esophagus	oesophagus
23	chr11:93519200-93542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:93519600-93520800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr11:93519600-93520800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr11:93519600-93520800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:93519600-93521200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr11:93519600-93521200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr11:93519600-93521400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:93519600-93522000	Weak transcription	A549	lung
31	chr11:93519800-93521400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:93519800-93521400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:93519800-93523800	Weak transcription	Fetal Stomach	stomach
34	chr11:93520000-93520800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr11:93520000-93520800	Genic enhancers	Primary monocytes fromperipheralblood	blood
36	chr11:93520000-93520800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:93520000-93520800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:93520000-93520800	Enhancers	Duodenum Mucosa	Duodenum
39	chr11:93520000-93521200	Weak transcription	Primary B cells from cord blood	blood
40	chr11:93520000-93521200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:93520000-93521200	Weak transcription	Fetal Intestine Large	intestine
42	chr11:93520000-93521200	Weak transcription	Placenta	Placenta
43	chr11:93520000-93521600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:93520000-93521600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr11:93520000-93522400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:93520000-93523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:93520000-93523800	Weak transcription	Spleen	Spleen
48	chr11:93520000-93527000	Weak transcription	Colonic Mucosa	Colon
49	chr11:93520200-93520800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:93520200-93520800	Active TSS	HUES6 Cell Line	embryonic stem cell

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