Variant report

Variant	rs7310
Chromosome Location	chr11:93495975-93495976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93494902..93497097-chr11:93516511..93518843,2	MCF-7	breast:
2	chr11:93473682..93478163-chr11:93493405..93496207,4	K562	blood:

Variant related genes	Relation type
ENSG00000042429	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000166012	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10831103	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10831104	1.00[JPT][hapmap]
rs11020511	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11603339	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11603364	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17650369	0.87[CHD][hapmap]
rs2895508	0.90[EUR][1000 genomes]
rs3097323	0.90[CEU][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap]
rs596052	0.89[EUR][1000 genomes]
rs607349	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs613610	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs621801	0.89[EUR][1000 genomes]
rs635963	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs643261	1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs644306	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.94[ASN][1000 genomes]
rs668546	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs677867	0.89[EUR][1000 genomes]
rs685865	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[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:15)

SNP	Gene	Cis/trans	Tissue	Source
rs7310	C11orf54	cis	cerebellum	SCAN
rs7310	FUT4	cis	cerebellum	SCAN
rs7310	ENDOD1	cis	cerebellum	SCAN
rs7310	MED17	cis	cerebellum	SCAN
rs7310	C11orf54	cis	parietal	SCAN
rs7310	C11orf54	cis	Esophagus Mucosa	GTEx
rs7310	SCARNA9	cis	parietal	SCAN
rs7310	C11orf54	cis	Artery Tibial	GTEx
rs7310	C11orf54	cis	Esophagus Muscularis	GTEx
rs7310	MED17	cis	parietal	SCAN
rs7310	C11orf54	cis	Skin Sun Exposed Lower leg	GTEx
rs7310	C11orf54	cis	Artery Aorta	GTEx
rs7310	C11orf54	cis	lymphoblastoid	seeQTL
rs7310	C11orf54	cis	lung	GTEx
rs7310	GPR83	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93475200-93497000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93475600-93497000	Weak transcription	NHDF-Ad	bronchial
3	chr11:93476000-93497000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:93476000-93497200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:93476000-93498800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:93476200-93499800	Weak transcription	NH-A	brain
7	chr11:93478200-93498800	Weak transcription	Fetal Heart	heart
8	chr11:93478600-93498200	Weak transcription	Stomach Mucosa	stomach
9	chr11:93478800-93508200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:93482000-93499600	Weak transcription	NHEK	skin
11	chr11:93482400-93499200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:93482800-93498400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:93483000-93497800	Strong transcription	Liver	Liver
14	chr11:93484800-93498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:93485000-93498600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr11:93485000-93499800	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:93485200-93497200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:93485200-93497600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:93485400-93498600	Strong transcription	Fetal Thymus	thymus
20	chr11:93486000-93499000	Strong transcription	Fetal Muscle Leg	muscle
21	chr11:93486200-93497200	Weak transcription	Right Atrium	heart
22	chr11:93486600-93496000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:93486600-93497000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:93486600-93497000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr11:93486600-93497200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr11:93486600-93497800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:93486600-93498800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:93486600-93499000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:93486600-93499000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:93486600-93499000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:93486800-93496200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:93486800-93496600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:93486800-93497000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:93486800-93497000	Strong transcription	Adipose Nuclei	Adipose
35	chr11:93486800-93497200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:93486800-93497200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:93486800-93497600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:93486800-93497800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:93486800-93497800	Strong transcription	Placenta	Placenta
40	chr11:93486800-93498000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:93486800-93498000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr11:93486800-93498200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:93486800-93499200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr11:93487000-93498000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:93487200-93496000	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr11:93487200-93497600	Strong transcription	Primary B cells from cord blood	blood
47	chr11:93488000-93496600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:93488000-93497600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:93488200-93498200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:93488200-93498600	Strong transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links