Variant report

Variant	rs4987946
Chromosome Location	chr11:108122823-108122824
allele	C/T
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	chr11:108122720-108124042	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
ATM	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17107775	0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4987891	1.00[ASW][hapmap]
rs4987907	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4987955	0.95[AFR][1000 genomes]
rs7103206	1.00[YRI][hapmap]
rs7925162	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]

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	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv556430	chr11:108097333-108175462	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108147400	Weak transcription	Esophagus	oesophagus
2	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:108096000-108148600	Weak transcription	Fetal Heart	heart
4	chr11:108096400-108156400	Weak transcription	NHLF	lung
5	chr11:108096600-108128400	Weak transcription	Pancreas	Pancrea
6	chr11:108097000-108129200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:108098400-108131600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:108099800-108139000	Weak transcription	Hela-S3	cervix
9	chr11:108100600-108128200	Weak transcription	K562	blood
10	chr11:108101200-108128200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:108101600-108130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:108104200-108130000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:108104200-108147400	Weak transcription	Gastric	stomach
14	chr11:108104600-108144000	Weak transcription	Lung	lung
15	chr11:108105600-108130400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:108107200-108124800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:108108200-108125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:108108200-108144200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:108108400-108184800	Weak transcription	NHEK	skin
20	chr11:108108600-108125400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:108108600-108128000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:108108800-108147600	Weak transcription	Psoas Muscle	Psoas
23	chr11:108109600-108130600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:108110400-108124000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:108111200-108124600	Weak transcription	A549	lung
26	chr11:108111400-108124000	Weak transcription	Left Ventricle	heart
27	chr11:108111400-108125800	Weak transcription	Thymus	Thymus
28	chr11:108111400-108128400	Weak transcription	Small Intestine	intestine
29	chr11:108112800-108131400	Strong transcription	Primary B cells from cord blood	blood
30	chr11:108113200-108130600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:108113600-108131800	Strong transcription	Dnd41	blood
32	chr11:108113800-108147200	Weak transcription	Aorta	Aorta
33	chr11:108114200-108125400	Weak transcription	Fetal Intestine Small	intestine
34	chr11:108114200-108126800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
35	chr11:108114800-108130400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:108114800-108131800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:108115000-108123800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr11:108115000-108132800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr11:108117000-108131400	Strong transcription	Liver	Liver
40	chr11:108117000-108131400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr11:108117200-108130400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:108117400-108123000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:108117400-108123600	Strong transcription	Osteobl	bone
44	chr11:108117400-108130400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:108117400-108131400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr11:108117400-108131600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:108117400-108132200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:108117600-108124600	Weak transcription	HepG2	liver
49	chr11:108117600-108125200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr11:108117600-108127200	Weak transcription	Fetal Brain Male	brain

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