Variant report

Variant	rs474005
Chromosome Location	chr11:66033301-66033302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66033143-66033518	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr11:66033211-66033315	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66033236..66035909-chr11:66113505..66116691,3	K562	blood:
2	chr11:65836630..65840121-chr11:66032259..66035828,5	MCF-7	breast:
3	chr11:66032275..66033954-chr11:66138154..66140084,2	MCF-7	breast:
4	chr11:65986301..65988103-chr11:66033197..66035059,2	K562	blood:
5	chr11:66033076..66035331-chr11:66114524..66116038,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254855	TF binding region
RAB1B	TF binding region
ENSG00000254461	TF binding region
ENSG00000174669	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000174684	Chromatin interaction
ENSG00000255468	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10791865	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10896104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1115508	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151537	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1151539	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151540	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1203798	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1717669	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1892939	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2508657	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3016319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs521109	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524859	0.87[GIH][hapmap];0.91[MKK][hapmap]
rs528842	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs555360	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs555853	0.96[ASN][1000 genomes]
rs556595	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs708471	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs708472	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs801731	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs801734	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs801735	0.88[EUR][1000 genomes]
rs801736	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs801737	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs801739	0.93[EUR][1000 genomes]
rs801741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9326370	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][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	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	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
3	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
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs474005	RP11-867G23.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66026200-66034200	Weak transcription	Right Atrium	heart
2	chr11:66026200-66035200	Weak transcription	Small Intestine	intestine
3	chr11:66026400-66034400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:66026400-66034400	Weak transcription	Psoas Muscle	Psoas
5	chr11:66026400-66034800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:66026400-66034800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:66026600-66034000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:66026600-66034000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:66026600-66034000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:66026600-66034000	Weak transcription	Fetal Heart	heart
11	chr11:66026600-66034000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:66026600-66034000	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:66026600-66034000	Strong transcription	NHLF	lung
14	chr11:66026600-66034200	Strong transcription	Right Ventricle	heart
15	chr11:66026600-66034400	Weak transcription	HUVEC	blood vessel
16	chr11:66026600-66034800	Weak transcription	HepG2	liver
17	chr11:66026600-66035200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:66026800-66033400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:66026800-66033400	Strong transcription	Placenta	Placenta
20	chr11:66026800-66033400	Strong transcription	Fetal Stomach	stomach
21	chr11:66026800-66033800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:66026800-66033800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:66026800-66034000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:66026800-66034000	Strong transcription	Fetal Intestine Small	intestine
25	chr11:66026800-66034000	Strong transcription	Lung	lung
26	chr11:66026800-66034000	Strong transcription	A549	lung
27	chr11:66026800-66034200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:66026800-66034200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:66026800-66034200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:66026800-66034200	Strong transcription	Fetal Intestine Large	intestine
31	chr11:66026800-66034400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:66026800-66034400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:66026800-66034400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:66026800-66034400	Weak transcription	Fetal Kidney	kidney
35	chr11:66026800-66034600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:66026800-66034600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:66027000-66033400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:66027000-66034000	Strong transcription	Primary T cells from cord blood	blood
39	chr11:66027000-66034000	Strong transcription	Brain Anterior Caudate	brain
40	chr11:66027000-66034000	Strong transcription	Brain Cingulate Gyrus	brain
41	chr11:66027000-66034200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:66027000-66034200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:66027000-66034400	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr11:66027000-66034600	Strong transcription	NHEK	skin
45	chr11:66027200-66034000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:66027200-66034000	Strong transcription	Brain Angular Gyrus	brain
47	chr11:66027200-66034000	Weak transcription	Stomach Mucosa	stomach
48	chr11:66027200-66034600	Strong transcription	Thymus	Thymus
49	chr11:66027400-66033400	Strong transcription	Aorta	Aorta
50	chr11:66027400-66033800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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