Variant report

Variant	rs4529894
Chromosome Location	chr11:57199645-57199646
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	POLR2A	chr11:57199465-57200695	U87	brain:	n/a	n/a
2	SPI1	chr11:57199556-57199966	GM12878	blood:	n/a	chr11:57199881-57199894 chr11:57199683-57199696 chr11:57199883-57199892
3	SPI1	chr11:57199585-57199793	GM12878	blood:	n/a	chr11:57199683-57199696
4	BHLHE40	chr11:57199639-57199688	K562	blood:	n/a	n/a
5	SPI1	chr11:57199523-57199858	GM12891	blood:	n/a	chr11:57199683-57199696
6	POLR2A	chr11:57199621-57200707	PBDE	blood:	n/a	n/a
7	SPI1	chr11:57199579-57200106	K562	blood:	n/a	chr11:57199881-57199894 chr11:57199683-57199696 chr11:57199883-57199892
8	SPI1	chr11:57199499-57199872	GM12891	blood:	n/a	chr11:57199683-57199696
9	SPI1	chr11:57199332-57200141	GM12878	blood:	n/a	chr11:57199881-57199894 chr11:57199683-57199696 chr11:57199883-57199892
10	SPI1	chr11:57199456-57200157	HL-60	blood:	n/a	chr11:57199881-57199894 chr11:57199683-57199696 chr11:57199883-57199892
11	POLR2A	chr11:57199483-57200689	U87	brain:	n/a	n/a
12	SPI1	chr11:57199504-57199810	K562	blood:	n/a	chr11:57199683-57199696
13	POLR2A	chr11:57199427-57200703	U87	brain:	n/a	n/a
14	SPI1	chr11:57199503-57200564	HL-60	blood:	n/a	chr11:57199881-57199894 chr11:57199683-57199696 chr11:57199883-57199892

No.	Distal block	Cell Line	Cell type
1	chr11:57197604..57200405-chr11:57246413..57248386,2	K562	blood:
2	chr11:57197274..57199985-chr11:57224146..57225779,2	K562	blood:
3	chr11:57199504..57201298-chr11:57434003..57435774,2	K562	blood:
4	chr11:57088588..57090285-chr11:57197679..57199918,2	K562	blood:

Variant related genes	Relation type
SLC43A3	TF binding region
ENSG00000156599	Chromatin interaction
ENSG00000149115	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11229028	0.98[ASN][1000 genomes]
rs11820985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11822095	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11822910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11827928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828218	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12422015	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12788236	0.83[ASN][1000 genomes]
rs2250887	0.98[ASN][1000 genomes]
rs2439448	0.98[ASN][1000 genomes]
rs2581924	0.87[ASN][1000 genomes]
rs2581928	0.98[ASN][1000 genomes]
rs2584858	0.84[ASN][1000 genomes]
rs2729389	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs2869510	0.81[ASN][1000 genomes]
rs35677854	0.81[ASN][1000 genomes]
rs4477456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60961847	0.92[ASN][1000 genomes]
rs61886978	0.96[ASN][1000 genomes]
rs7106223	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7122734	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57195000-57200000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:57195000-57201800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:57195000-57202400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr11:57195400-57199800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:57195400-57199800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:57195400-57199800	Weak transcription	Fetal Thymus	thymus
7	chr11:57195600-57202400	Weak transcription	Pancreas	Pancrea
8	chr11:57195800-57200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:57195800-57200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:57195800-57202000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:57195800-57202000	Weak transcription	NHEK	skin
12	chr11:57195800-57202400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:57195800-57202400	Weak transcription	Esophagus	oesophagus
14	chr11:57196000-57200000	Weak transcription	HSMM	muscle
15	chr11:57196000-57200200	Weak transcription	HSMMtube	muscle
16	chr11:57196000-57200400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:57196000-57201800	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:57196200-57199800	Weak transcription	NHLF	lung
19	chr11:57196600-57199800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:57197000-57203000	Enhancers	HepG2	liver
21	chr11:57197400-57201600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:57197600-57200000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:57197600-57200800	Weak transcription	Hela-S3	cervix
24	chr11:57198200-57199800	Enhancers	K562	blood
25	chr11:57198200-57200600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:57198200-57201000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:57198200-57201800	Enhancers	A549	lung
28	chr11:57198200-57202800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:57198400-57200600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:57198400-57203000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr11:57198600-57202600	Weak transcription	Right Atrium	heart
32	chr11:57199000-57200600	Enhancers	Brain Hippocampus Middle	brain
33	chr11:57199200-57200000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:57199200-57200400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr11:57199200-57200800	Enhancers	GM12878-XiMat	blood
36	chr11:57199200-57201800	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:57199200-57203800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:57199400-57199800	Enhancers	Liver	Liver
39	chr11:57199400-57200200	Enhancers	Brain Anterior Caudate	brain
40	chr11:57199400-57200400	Enhancers	Brain Angular Gyrus	brain
41	chr11:57199400-57200400	Enhancers	Brain Cingulate Gyrus	brain
42	chr11:57199400-57200400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr11:57199400-57200400	Enhancers	Fetal Muscle Leg	muscle
44	chr11:57199400-57200400	Enhancers	Lung	lung
45	chr11:57199400-57200400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr11:57199400-57202800	Enhancers	Adipose Nuclei	Adipose
47	chr11:57199400-57203000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:57199400-57203000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:57199400-57203000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:57199400-57203000	Enhancers	Osteobl	bone

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