Variant report

Variant	rs2742499
Chromosome Location	chr11:8963130-8963131
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	MYC	chr11:8962967-8963149	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8961456..8964030-chr11:8978805..8982021,3	K562	blood:
2	chr11:8957976..8959649-chr11:8961738..8963442,2	K562	blood:

Variant related genes	Relation type
ASCL3	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16906231	0.85[EUR][1000 genomes]
rs2455603	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2653598	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34856936	0.91[EUR][1000 genomes]
rs35131475	0.91[EUR][1000 genomes]
rs59314648	0.85[EUR][1000 genomes]
rs60771192	0.82[EUR][1000 genomes]
rs61730186	0.85[EUR][1000 genomes]
rs7949740	0.88[EUR][1000 genomes]
rs7950777	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv430318	chr11:8958492-8964319	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv553449	chr11:8958903-8964691	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv553450	chr11:8958903-8964938	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv553452	chr11:8959020-8964691	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv553453	chr11:8959020-8964938	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8943800-8969200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:8944600-8985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:8945800-8974000	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:8947000-8968800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:8947000-8977000	Weak transcription	Aorta	Aorta
6	chr11:8947400-8969000	Weak transcription	Thymus	Thymus
7	chr11:8947600-8969000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:8948200-8969000	Weak transcription	Fetal Brain Female	brain
9	chr11:8948600-8969200	Weak transcription	Gastric	stomach
10	chr11:8948600-8969200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:8951200-8974400	Weak transcription	HepG2	liver
12	chr11:8952600-8975800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:8952800-8968600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:8954400-8984400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:8955200-8976200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:8955800-8968000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:8956800-8968600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:8956800-8969000	Weak transcription	Osteobl	bone
19	chr11:8957000-8968000	Weak transcription	HSMM	muscle
20	chr11:8957000-8968800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:8957000-8968800	Weak transcription	Fetal Intestine Large	intestine
22	chr11:8957000-8969000	Weak transcription	HSMMtube	muscle
23	chr11:8957000-8969800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:8957000-8969800	Weak transcription	Fetal Stomach	stomach
25	chr11:8957000-8974200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:8957000-8980800	Weak transcription	Fetal Heart	heart
27	chr11:8957200-8968800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:8957200-8968800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:8957200-8969000	Weak transcription	A549	lung
30	chr11:8957200-8969200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:8957200-8970200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:8957200-8973400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:8957400-8968600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:8957400-8968800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:8957400-8969000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:8957400-8969000	Weak transcription	Fetal Thymus	thymus
37	chr11:8957400-8969000	Weak transcription	NH-A	brain
38	chr11:8957400-8969800	Weak transcription	Spleen	Spleen
39	chr11:8958800-8969000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:8959000-8968800	Weak transcription	Placenta	Placenta
41	chr11:8959000-8974000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:8959200-8970600	Weak transcription	Fetal Kidney	kidney
43	chr11:8960800-8969200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:8962400-8963200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:8962400-8968600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:8962600-8963600	Enhancers	K562	blood
47	chr11:8962800-8963200	Enhancers	Fetal Lung	lung
48	chr11:8962800-8963200	Enhancers	Ovary	ovary
49	chr11:8962800-8971800	Weak transcription	NHDF-Ad	bronchial
50	chr11:8963000-8963200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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