Variant report

Variant	rs11605600
Chromosome Location	chr11:34939516-34939517
allele	A/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	ELK1	chr11:34939498-34939879	K562	blood:	n/a	n/a
2	ELK4	chr11:34939501-34939940	Hela-S3	cervix:	n/a	n/a
3	HCFC1	chr11:34936926-34940949	Hela-S3	cervix:	n/a	n/a
4	ELK1	chr11:34939495-34939852	GM12878	blood:	n/a	n/a
5	SRF	chr11:34939390-34939948	MCF-7	breast:	n/a	chr11:34939680-34939694 chr11:34939677-34939694 chr11:34939677-34939691 chr11:34939675-34939693 chr11:34939678-34939693 chr11:34939679-34939692 chr11:34939680-34939691
6	SRF	chr11:34939500-34939875	K562	blood:	n/a	chr11:34939680-34939694 chr11:34939677-34939694 chr11:34939677-34939691 chr11:34939675-34939693 chr11:34939678-34939693 chr11:34939679-34939692 chr11:34939680-34939691
7	SRF	chr11:34939341-34939823	HepG2	liver:	n/a	chr11:34939680-34939694 chr11:34939677-34939694 chr11:34939677-34939691 chr11:34939675-34939693 chr11:34939678-34939693 chr11:34939679-34939692 chr11:34939680-34939691
8	POLR2A	chr11:34937267-34939543	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr11:34939482-34939517	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:34936876-34940255	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34938207..34939863-chr11:35260000..35262264,2	K562	blood:
2	chr11:34937811..34940525-chr11:34962659..34964952,2	MCF-7	breast:
3	chr11:34605985..34608292-chr11:34938833..34941617,2	K562	blood:
4	chr11:34938300..34939878-chr11:34967011..34969816,2	MCF-7	breast:

Variant related genes	Relation type
APIP	TF binding region
ENSG00000251862	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10488802	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10836317	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1117050	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11539202	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11601737	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11602364	0.86[AMR][1000 genomes]
rs11602584	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11605972	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11605993	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11606580	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11606871	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11607986	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11608116	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1409718	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1509661	0.81[AMR][1000 genomes]
rs17347979	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17348697	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17348711	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17349298	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17363135	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17432226	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17433496	0.96[CEU][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17434808	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17434946	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17711539	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17783998	0.86[AMR][1000 genomes]
rs17784324	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2217479	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2421744	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3852515	0.91[CEU][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3852516	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3852517	0.93[CEU][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4534556	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55672020	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55868872	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55911702	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55929026	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55957800	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56061305	0.82[EUR][1000 genomes]
rs61734605	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7110461	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72912924	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72912934	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72914758	0.83[EUR][1000 genomes]
rs72922479	0.86[AMR][1000 genomes]
rs72922482	0.86[AMR][1000 genomes]
rs72924508	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72924541	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72924562	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72926580	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72928507	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72930433	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72930443	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72930458	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72930462	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930468	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930480	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7479823	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7937316	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7948977	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7950996	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]

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	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2757436	chr11:34913315-34963728	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
4	esv2759817	chr11:34913315-34963728	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
5	esv34511	chr11:34914124-34942836	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
6	esv2756165	chr11:34914137-34942836	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11605600	APIP	cis	lung	GTEx
rs11605600	APIP	cis	Esophagus Muscularis	GTEx
rs11605600	APIP	cis	Stomach	GTEx
rs11605600	APIP	cis	Heart Left Ventricle	GTEx
rs11605600	APIP	cis	Artery Tibial	GTEx
rs11605600	APIP	cis	Adipose Subcutaneous	GTEx
rs11605600	APIP	cis	Nerve Tibial	GTEx
rs11605600	PDHX	Cis_1M	lymphoblastoid	RTeQTL
rs11605600	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs11605600	APIP	cis	Thyroid	GTEx
rs11605600	APIP	cis	Artery Aorta	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34936200-34940000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:34936600-34939600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:34936600-34939800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:34936800-34939600	Active TSS	Right Ventricle	heart
5	chr11:34937000-34939600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:34937000-34939800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr11:34937400-34940000	Active TSS	K562	blood
8	chr11:34937400-34940400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:34938200-34939800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr11:34938400-34939600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr11:34938400-34940000	Active TSS	Right Atrium	heart
12	chr11:34938600-34940000	Flanking Active TSS	Liver	Liver
13	chr11:34938800-34939600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr11:34938800-34939600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr11:34938800-34939600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr11:34938800-34939600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:34938800-34939600	Flanking Active TSS	NH-A	brain
18	chr11:34938800-34939800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:34938800-34940000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:34938800-34940000	Enhancers	Spleen	Spleen
21	chr11:34938800-34940400	Enhancers	Small Intestine	intestine
22	chr11:34938800-34951400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:34938800-34957400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:34938800-34990400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:34939000-34939600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr11:34939000-34939600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr11:34939000-34939600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:34939000-34939600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:34939000-34939600	Enhancers	Primary hematopoietic stem cells	blood
30	chr11:34939000-34939600	Enhancers	Fetal Thymus	thymus
31	chr11:34939000-34939600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:34939000-34939600	Enhancers	Stomach Mucosa	stomach
33	chr11:34939000-34939600	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr11:34939000-34939600	Flanking Active TSS	A549	lung
35	chr11:34939000-34939600	Flanking Active TSS	GM12878-XiMat	blood
36	chr11:34939000-34939600	Flanking Active TSS	Osteobl	bone
37	chr11:34939000-34939800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:34939000-34939800	Enhancers	Placenta	Placenta
39	chr11:34939000-34939800	Enhancers	Pancreas	Pancrea
40	chr11:34939000-34940000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:34939000-34940000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr11:34939000-34940000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:34939000-34940000	Active TSS	HepG2	liver
44	chr11:34939000-34940200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:34939000-34940200	Enhancers	Primary T cells from cord blood	blood
46	chr11:34939000-34940200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr11:34939000-34940200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:34939000-34940200	Enhancers	Brain Substantia Nigra	brain
49	chr11:34939000-34940400	Weak transcription	Aorta	Aorta
50	chr11:34939000-34940400	Enhancers	Fetal Heart	heart

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