Variant report

Variant	rs2508762
Chromosome Location	chr11:76222108-76222109
allele	C/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	TEAD4	chr11:76221676-76222180	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr11:76221664-76222118	ECC-1	luminal epithelium:	n/a	n/a
3	GATA3	chr11:76221486-76222146	SK-N-SH	brain:	n/a	n/a
4	TEAD4	chr11:76221616-76222151	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76217657..76219893-chr11:76220860..76223168,2	K562	blood:

Variant related genes	Relation type
C11orf30	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10160382	0.85[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.92[ASN][1000 genomes]
rs10793167	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs10793169	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs10793171	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10899217	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899222	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899225	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10899227	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236749	0.84[EUR][1000 genomes]
rs11236752	0.89[EUR][1000 genomes]
rs17749618	0.80[CEU][hapmap]
rs1939467	0.84[CEU][hapmap]
rs1939468	0.80[CEU][hapmap]
rs2508740	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508741	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508753	0.85[AMR][1000 genomes]
rs2508759	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2508760	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2508761	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2513504	0.96[CEU][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2513505	0.88[AMR][1000 genomes]
rs2513508	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2513513	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2513520	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2513523	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2513525	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3753051	0.80[CEU][hapmap]
rs3814711	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245443	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs4272809	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4300410	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4945090	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5023625	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6592635	0.82[EUR][1000 genomes]
rs7106564	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7107058	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs7109548	0.83[EUR][1000 genomes]
rs7123361	0.88[CEU][hapmap]
rs7125552	0.85[CEU][hapmap]
rs7926009	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7942257	0.81[CEU][hapmap]
rs7949258	0.85[CEU][hapmap]
rs8848	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050713	chr11:76147085-76267117	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv3383733	chr11:76186353-76225544	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2508762	C11orf30	cis	multi-tissue	Pritchard

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76168800-76234800	Weak transcription	Psoas Muscle	Psoas
2	chr11:76184400-76235000	Weak transcription	NHEK	skin
3	chr11:76189000-76231400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:76189400-76223000	Weak transcription	HUVEC	blood vessel
5	chr11:76190800-76234200	Weak transcription	Left Ventricle	heart
6	chr11:76191400-76239000	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:76191600-76231600	Weak transcription	NHDF-Ad	bronchial
8	chr11:76192800-76242800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:76205200-76234200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:76205200-76235800	Weak transcription	NHLF	lung
11	chr11:76205200-76254400	Weak transcription	Aorta	Aorta
12	chr11:76205400-76227000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:76205400-76235800	Weak transcription	Lung	lung
14	chr11:76205400-76240000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:76205400-76254600	Weak transcription	Right Ventricle	heart
16	chr11:76205400-76255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:76205600-76239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:76205800-76235800	Weak transcription	Esophagus	oesophagus
19	chr11:76206000-76249200	Weak transcription	Colonic Mucosa	Colon
20	chr11:76207400-76239400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:76207400-76240000	Weak transcription	Brain Substantia Nigra	brain
22	chr11:76207400-76254400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:76207600-76239400	Weak transcription	Brain Angular Gyrus	brain
24	chr11:76208000-76234200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:76208000-76234200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:76208000-76235200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:76208200-76234200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:76208400-76234200	Weak transcription	Brain Anterior Caudate	brain
29	chr11:76211200-76232400	Weak transcription	Fetal Stomach	stomach
30	chr11:76212000-76234200	Weak transcription	Thymus	Thymus
31	chr11:76212000-76234400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:76212000-76235200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:76212000-76235400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:76212200-76224400	Weak transcription	K562	blood
35	chr11:76212200-76229200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:76212200-76234200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:76212400-76224400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr11:76212400-76224400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:76212400-76228200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr11:76212600-76224400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:76212600-76234200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:76212800-76224000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:76212800-76224400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:76212800-76227800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:76212800-76230600	Weak transcription	Fetal Kidney	kidney
46	chr11:76212800-76235000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:76213000-76224000	Weak transcription	Hela-S3	cervix
48	chr11:76213000-76224400	Weak transcription	Liver	Liver
49	chr11:76213000-76224600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:76213000-76225400	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links