Variant report

Variant	rs1939938
Chromosome Location	chr11:65131319-65131320
allele	A/C
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	CEBPB	chr11:65131261-65131590	HepG2	liver:	n/a	chr11:65131411-65131422
2	CEBPB	chr11:65131246-65131561	K562	blood:	n/a	chr11:65131411-65131422
3	CEBPB	chr11:65131265-65131595	K562	blood:	n/a	chr11:65131411-65131422
4	CEBPB	chr11:65131238-65131586	HepG2	liver:	n/a	chr11:65131411-65131422
5	CEBPB	chr11:65131315-65131578	IMR90	lung:	n/a	chr11:65131411-65131422

No.	Distal block	Cell Line	Cell type
1	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
2	chr11:65119501..65124064-chr11:65129733..65133005,5	MCF-7	breast:
3	chr11:65120610..65125735-chr11:65127487..65133123,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255478	TF binding region
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000173825	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1152621	1.00[EUR][1000 genomes]
rs11823327	1.00[EUR][1000 genomes]
rs11826426	1.00[EUR][1000 genomes]
rs11826954	1.00[EUR][1000 genomes]
rs1194339	1.00[EUR][1000 genomes]
rs17146805	1.00[EUR][1000 genomes]
rs1784102	1.00[EUR][1000 genomes]
rs1784221	1.00[EUR][1000 genomes]
rs2307266	1.00[EUR][1000 genomes]
rs34286323	1.00[EUR][1000 genomes]
rs4149823	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs4149824	1.00[EUR][1000 genomes]
rs4149828	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs4149835	1.00[EUR][1000 genomes]
rs4149839	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs4647581	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647583	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647585	1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647598	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58771438	1.00[EUR][1000 genomes]
rs59598510	1.00[EUR][1000 genomes]
rs59646878	1.00[EUR][1000 genomes]
rs60315122	1.00[EUR][1000 genomes]
rs61072220	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482248	1.00[EUR][1000 genomes]
rs73482250	1.00[EUR][1000 genomes]
rs73482254	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482257	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482268	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482938	1.00[EUR][1000 genomes]
rs73482957	1.00[EUR][1000 genomes]
rs73482959	1.00[EUR][1000 genomes]
rs73482962	1.00[EUR][1000 genomes]
rs73482972	1.00[EUR][1000 genomes]
rs73482975	1.00[EUR][1000 genomes]
rs73484340	1.00[EUR][1000 genomes]
rs73484344	1.00[EUR][1000 genomes]
rs73484345	1.00[EUR][1000 genomes]
rs73484944	1.00[EUR][1000 genomes]
rs73484950	1.00[EUR][1000 genomes]
rs73484954	1.00[EUR][1000 genomes]
rs73484963	1.00[EUR][1000 genomes]
rs73484971	1.00[EUR][1000 genomes]
rs73484972	1.00[EUR][1000 genomes]
rs73484981	1.00[EUR][1000 genomes]

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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
3	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
4	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65123400-65143600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:65123600-65143800	Weak transcription	Thymus	Thymus
3	chr11:65123800-65134200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:65124000-65133800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:65125600-65134000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:65125800-65133800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:65126400-65134000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:65127200-65141400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:65127200-65143800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:65127600-65139200	Weak transcription	Left Ventricle	heart
11	chr11:65127800-65134000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:65127800-65134000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:65128600-65134000	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:65129200-65131400	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:65129200-65131400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:65129200-65132000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:65130000-65133800	Weak transcription	Spleen	Spleen
18	chr11:65130200-65133400	Weak transcription	HepG2	liver
19	chr11:65130400-65131600	Enhancers	K562	blood
20	chr11:65130400-65142600	Weak transcription	Primary T cells from cord blood	blood
21	chr11:65130600-65131600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:65130600-65133800	Weak transcription	Fetal Thymus	thymus
23	chr11:65130800-65131400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr11:65130800-65132000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr11:65130800-65132000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:65130800-65133800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:65131000-65133600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:65131000-65133800	Weak transcription	Primary B cells from cord blood	blood
29	chr11:65131200-65131400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:65131200-65131400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:65131200-65131600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:65131200-65131600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr11:65131200-65133800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:65131200-65133800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:65131200-65134000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:65131200-65134000	Weak transcription	GM12878-XiMat	blood

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