Variant report

Variant	rs10791896
Chromosome Location	chr11:66689240-66689241
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66688142..66690756-chr11:66716673..66718279,2	K562	blood:
2	chr11:66687308..66690521-chr11:66692688..66697038,8	K562	blood:
3	chr11:66674298..66676896-chr11:66688081..66690762,2	K562	blood:
4	chr11:66687308..66690460-chr11:66693802..66697038,4	K562	blood:
5	chr11:66659348..66661301-chr11:66688129..66690167,2	K562	blood:

Variant related genes	Relation type
ENSG00000173599	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1077256	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10791894	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11227624	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11227625	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227628	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227630	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1530891	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs1901376	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930394	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6591226	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs67156018	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7107498	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7110302	0.91[JPT][hapmap]
rs7119682	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs746018	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs746019	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7935749	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7936290	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7944999	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966021	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10791896	LRFN4	Cis_1M	lymphoblastoid	RTeQTL
rs10791896	ACTN3	cis	Muscle Skeletal	GTEx
rs10791896	CTD-3074O7.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66674400-66689600	Weak transcription	NHLF	lung
2	chr11:66674600-66696400	Weak transcription	NHEK	skin
3	chr11:66675000-66696200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:66675600-66699800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:66676800-66696400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:66677200-66692000	Weak transcription	Pancreas	Pancrea
7	chr11:66683200-66698200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:66683800-66692400	Weak transcription	Fetal Intestine Small	intestine
9	chr11:66685400-66702400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:66686800-66689400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:66687000-66689400	Enhancers	Brain Anterior Caudate	brain
12	chr11:66687000-66689600	Enhancers	Brain Hippocampus Middle	brain
13	chr11:66687400-66689400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:66687400-66689600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:66687400-66689600	Enhancers	Adipose Nuclei	Adipose
16	chr11:66687400-66689800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:66687400-66689800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr11:66687400-66696400	Weak transcription	HSMMtube	muscle
19	chr11:66687600-66690400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:66687800-66696400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:66687800-66701400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:66688000-66689600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:66688200-66690400	Genic enhancers	A549	lung
24	chr11:66688200-66693800	Weak transcription	Liver	Liver
25	chr11:66688400-66689400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:66688400-66689400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:66688400-66689600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr11:66688600-66689400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr11:66688600-66689600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:66688600-66689600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr11:66688600-66689600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr11:66688600-66689600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr11:66688600-66689600	Enhancers	Primary hematopoietic stem cells	blood
34	chr11:66688600-66689800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:66688800-66689400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:66688800-66689600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:66688800-66689600	Enhancers	Brain Substantia Nigra	brain
38	chr11:66689000-66689600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:66689000-66689600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:66689000-66690200	Strong transcription	Hela-S3	cervix
41	chr11:66689000-66690600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr11:66689000-66696200	Weak transcription	Osteobl	bone
43	chr11:66689200-66689400	Enhancers	K562	blood
44	chr11:66689200-66690600	Enhancers	Brain Cingulate Gyrus	brain
45	chr11:66689200-66696400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:66689200-66719400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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