Variant report

Variant	rs10894996
Chromosome Location	chr11:100509745-100509746
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100498644..100501937-chr11:100508407..100511533,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10750591	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10791423	0.91[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs1532710	1.00[ASW][hapmap]
rs1587647	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs4312035	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs607562	1.00[ASW][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv556122	chr11:99893282-100585889	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1039852	chr11:99901695-100610533	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv541152	chr11:99901695-100610533	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1043022	chr11:100387466-100610533	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv832246	chr11:100426725-100606957	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv556128	chr11:100493995-100513913	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1037743	chr11:100498709-100521043	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10894996	MMP8	cis	cerebellum	SCAN
rs10894996	ARHGAP42	cis	cerebellum	SCAN
rs10894996	TMEM133	cis	Artery Tibial	GTEx
rs10894996	ARHGAP42	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100501800-100512200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:100502000-100512800	Weak transcription	Gastric	stomach
3	chr11:100502600-100509800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:100504000-100510000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:100504000-100510000	Weak transcription	Brain Germinal Matrix	brain
6	chr11:100504800-100509800	Weak transcription	Fetal Intestine Large	intestine
7	chr11:100505000-100511200	Enhancers	Placenta	Placenta
8	chr11:100508200-100514400	Enhancers	Fetal Lung	lung
9	chr11:100508400-100510800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:100508800-100510000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:100508800-100510600	Weak transcription	Small Intestine	intestine
12	chr11:100508800-100511400	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:100509400-100509800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:100509400-100509800	Enhancers	Brain Hippocampus Middle	brain
15	chr11:100509400-100509800	Enhancers	Ovary	ovary
16	chr11:100509400-100510200	Enhancers	Fetal Kidney	kidney
17	chr11:100509400-100510400	Enhancers	NH-A	brain
18	chr11:100509400-100510800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:100509400-100511000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr11:100509400-100511000	Enhancers	NHLF	lung
21	chr11:100509400-100512000	Enhancers	Fetal Heart	heart
22	chr11:100509400-100513000	Enhancers	Fetal Stomach	stomach
23	chr11:100509600-100509800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:100509600-100509800	Enhancers	Brain Cingulate Gyrus	brain
25	chr11:100509600-100509800	Enhancers	Stomach Smooth Muscle	stomach
26	chr11:100509600-100509800	Enhancers	A549	lung
27	chr11:100509600-100509800	Enhancers	HepG2	liver
28	chr11:100509600-100510000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:100509600-100510000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:100509600-100510000	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr11:100509600-100510000	Enhancers	Brain Substantia Nigra	brain
32	chr11:100509600-100510000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:100509600-100510000	Enhancers	K562	blood
34	chr11:100509600-100510200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr11:100509600-100510200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr11:100509600-100510200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:100509600-100510200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:100509600-100510200	Enhancers	Esophagus	oesophagus
39	chr11:100509600-100510200	Enhancers	Fetal Intestine Small	intestine
40	chr11:100509600-100510400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr11:100509600-100510600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:100509600-100510600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr11:100509600-100510600	Enhancers	HUVEC	blood vessel
44	chr11:100509600-100510800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr11:100509600-100510800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:100509600-100510800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr11:100509600-100510800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr11:100509600-100511000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr11:100509600-100511000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr11:100509600-100511600	Enhancers	Stomach Mucosa	stomach

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