Variant report

Variant	rs4930346
Chromosome Location	chr11:65993679-65993680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65992640..65997038-chr11:65997168..66001737,7	K562	blood:
2	chr11:65992220..65994566-chr11:66000481..66002782,3	MCF-7	breast:
3	chr11:65991713..65994038-chr11:66048544..66051109,2	K562	blood:
4	chr11:65993422..65995175-chr11:65999155..66000951,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175115	Chromatin interaction
ENSG00000174871	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2078069	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3814739	0.84[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs484261	0.96[CEU][hapmap];0.89[GIH][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs4930173	0.89[ASN][1000 genomes]
rs4930344	0.89[ASN][1000 genomes]
rs4930345	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs513474	0.88[ASN][1000 genomes]
rs526200	0.82[ASN][1000 genomes]
rs534489	0.88[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs55746937	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55838040	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55931871	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56038054	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs561373	0.84[ASN][1000 genomes]
rs56151197	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56285664	0.85[ASN][1000 genomes]
rs57678007	0.89[ASN][1000 genomes]
rs7123153	0.88[ASN][1000 genomes]
rs7128537	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72936632	0.88[ASN][1000 genomes]
rs72936635	0.88[ASN][1000 genomes]
rs72936656	0.90[ASN][1000 genomes]
rs72936660	0.91[ASN][1000 genomes]
rs72936672	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72936699	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4930346	RAB1B	cis	parietal	SCAN
rs4930346	SLC22A12	cis	parietal	SCAN
rs4930346	SNX32	cis	parietal	SCAN
rs4930346	UBXN1	cis	cerebellum	SCAN
rs4930346	C1orf223	trans	parietal	SCAN
rs4930346	C11orf83	cis	cerebellum	SCAN
rs4930346	FKBP2	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65961400-66011200	Weak transcription	Psoas Muscle	Psoas
2	chr11:65976600-66006000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:65976800-65996000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:65977200-65996000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:65977400-66010600	Strong transcription	Fetal Stomach	stomach
6	chr11:65977600-66018600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:65979800-66001200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:65980000-65994000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:65982200-65995800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:65984600-66024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:65984800-66000400	Weak transcription	HMEC	breast
12	chr11:65985200-65998800	Weak transcription	NHDF-Ad	bronchial
13	chr11:65985800-66017800	Weak transcription	Fetal Heart	heart
14	chr11:65987800-66003400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:65988200-66001200	Weak transcription	Small Intestine	intestine
16	chr11:65988400-65995800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:65988600-65995200	Weak transcription	Brain Angular Gyrus	brain
18	chr11:65988600-65995200	Weak transcription	NHLF	lung
19	chr11:65988600-65997800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:65988800-65994600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:65988800-65995000	Weak transcription	Liver	Liver
22	chr11:65988800-65997800	Weak transcription	Pancreas	Pancrea
23	chr11:65988800-65998400	Weak transcription	Brain Substantia Nigra	brain
24	chr11:65988800-65998800	Weak transcription	Colonic Mucosa	Colon
25	chr11:65989000-65995200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:65989000-65997800	Weak transcription	Right Ventricle	heart
27	chr11:65989600-66024200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:65990000-65995200	Weak transcription	Gastric	stomach
29	chr11:65990000-66002600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:65990200-65995200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:65990200-65995200	Weak transcription	Esophagus	oesophagus
32	chr11:65990200-65995800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:65990200-65995800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:65990200-65996200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:65990200-65998600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:65990200-65999200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:65990200-65999200	Weak transcription	Stomach Mucosa	stomach
38	chr11:65990200-66003000	Weak transcription	HepG2	liver
39	chr11:65990200-66007600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:65990200-66019800	Strong transcription	Primary T cells from cord blood	blood
41	chr11:65990400-65994600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:65990400-65995400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:65990400-66009200	Weak transcription	K562	blood
44	chr11:65990600-65995200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:65990600-65998000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr11:65990600-66003000	Weak transcription	Fetal Kidney	kidney
47	chr11:65990600-66015800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:65990600-66018400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:65990800-65993800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:65990800-65995400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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