Variant report

Variant	rs1530891
Chromosome Location	chr11:66718431-66718432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66716396..66719208-chr11:66722868..66726925,5	MCF-7	breast:
2	chr11:66717949..66720273-chr11:66722592..66724676,2	MCF-7	breast:
3	chr11:66712201..66714524-chr11:66716191..66718681,3	K562	blood:
4	chr11:66706242..66707794-chr11:66717409..66719183,2	K562	blood:
5	chr11:66716353..66721317-chr11:66722953..66727183,8	K562	blood:
6	chr11:66623192..66625409-chr11:66716866..66719139,2	MCF-7	breast:
7	chr11:66712628..66714524-chr11:66717181..66719524,2	K562	blood:
8	chr11:66703140..66705919-chr11:66717566..66719138,2	K562	blood:
9	chr11:66698879..66700864-chr11:66717852..66719958,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173621	Chromatin interaction
ENSG00000173599	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1077256	0.96[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10791894	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10791896	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs11227624	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11227625	0.80[CEU][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap]
rs11227628	0.86[JPT][hapmap]
rs12419173	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs34482178	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4483596	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930393	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4930394	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6591226	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7103335	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7107498	0.81[CEU][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap]
rs7110302	0.91[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.83[MKK][hapmap];0.89[ASN][1000 genomes]
rs7119682	0.84[CEU][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap]
rs746018	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs746019	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7935749	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7944999	0.80[CEU][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap]
rs966021	0.80[CEU][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
5	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	esv1846713	chr11:66712229-66728044	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1530891	ACTN3	cis	Muscle Skeletal	GTEx
rs1530891	EHBP1L1	cis	cerebellum	SCAN
rs1530891	B3GNT1	cis	parietal	SCAN
rs1530891	SLC25A45	cis	parietal	SCAN
rs1530891	ZFPL1	cis	parietal	SCAN
rs1530891	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs1530891	PC	cis	cerebellum	SCAN
rs1530891	FGF4	cis	parietal	SCAN
rs1530891	SUV420H1	cis	cerebellum	SCAN
rs1530891	CDC42BPG	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66689200-66719400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:66701200-66724200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:66701800-66719600	Weak transcription	Brain Substantia Nigra	brain
4	chr11:66702800-66723600	Weak transcription	Brain Angular Gyrus	brain
5	chr11:66706600-66719400	Weak transcription	Fetal Heart	heart
6	chr11:66708000-66724200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:66708200-66724200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:66708600-66724200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:66708600-66724200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:66709200-66719600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:66709400-66724400	Weak transcription	Brain Germinal Matrix	brain
12	chr11:66710200-66719400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:66710800-66719400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:66711200-66719600	Weak transcription	Fetal Stomach	stomach
15	chr11:66713600-66724200	Weak transcription	Spleen	Spleen
16	chr11:66714400-66724400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:66716200-66719600	Weak transcription	Adipose Nuclei	Adipose
18	chr11:66716200-66725200	Weak transcription	Aorta	Aorta
19	chr11:66716400-66724200	Weak transcription	Dnd41	blood
20	chr11:66716400-66725200	Weak transcription	Lung	lung
21	chr11:66716800-66719600	Weak transcription	Fetal Lung	lung
22	chr11:66717200-66718600	Enhancers	K562	blood
23	chr11:66717200-66719800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:66717200-66720800	Enhancers	Placenta	Placenta
25	chr11:66717200-66724200	Weak transcription	Fetal Intestine Large	intestine
26	chr11:66717400-66718600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:66717400-66718600	Flanking Active TSS	Hela-S3	cervix
28	chr11:66717600-66718600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr11:66717600-66718600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:66717600-66718600	Enhancers	Gastric	stomach
31	chr11:66717600-66718600	Genic enhancers	NHEK	skin
32	chr11:66717600-66718800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:66717600-66718800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:66717600-66718800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr11:66717600-66720000	Enhancers	HepG2	liver
36	chr11:66717600-66720800	Enhancers	Fetal Muscle Leg	muscle
37	chr11:66717600-66722000	Strong transcription	Brain Cingulate Gyrus	brain
38	chr11:66717800-66718600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:66717800-66718600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr11:66717800-66719400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:66717800-66721400	Strong transcription	Primary T cells from cord blood	blood
42	chr11:66717800-66724000	Weak transcription	Fetal Kidney	kidney
43	chr11:66717800-66724200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:66717800-66725000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:66718000-66719000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr11:66718000-66719000	Strong transcription	Brain Hippocampus Middle	brain
47	chr11:66718000-66719400	Weak transcription	Pancreas	Pancrea
48	chr11:66718000-66719600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:66718000-66719800	Strong transcription	Liver	Liver
50	chr11:66718000-66724200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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