Variant report

Variant	rs739688
Chromosome Location	chr11:17427557-17427558
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	EBF1	chr11:17427186-17427566	GM12878	blood:	n/a	chr11:17427401-17427412 chr11:17427435-17427446 chr11:17427381-17427392
2	EP300	chr11:17427194-17427603	MCF-7	breast:	n/a	n/a
3	TCF12	chr11:17427039-17427606	A549	lung:	n/a	chr11:17427162-17427171
4	FOXA2	chr11:17427373-17427650	HepG2	liver:	n/a	chr11:17427530-17427542
5	RAD21	chr11:17427155-17427600	MCF-7	breast:	n/a	n/a
6	UBTF	chr11:17427263-17427579	K562	blood:	n/a	n/a
7	NR3C1	chr11:17427199-17427579	A549	lung:	n/a	chr11:17427389-17427403 chr11:17427389-17427404 chr11:17427367-17427376 chr11:17427439-17427452
8	KAP1	chr11:17426954-17427931	U2OS	brain:	n/a	chr11:17426998-17427006
9	USF1	chr11:17427156-17427619	A549	lung:	n/a	chr11:17427351-17427367
10	NR3C1	chr11:17427207-17427609	A549	lung:	n/a	chr11:17427389-17427403 chr11:17427389-17427404 chr11:17427367-17427376 chr11:17427439-17427452
11	RAD21	chr11:17427049-17427566	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAFK	chr11:17427206-17427576	HepG2	liver:	n/a	chr11:17427367-17427377 chr11:17427366-17427381 chr11:17427368-17427377
13	JUND	chr11:17427156-17427607	K562	blood:	n/a	n/a
14	FOXA1	chr11:17427205-17427693	HepG2	liver:	n/a	chr11:17427530-17427542
15	FOXA1	chr11:17427024-17427692	A549	lung:	n/a	chr11:17427530-17427542
16	ESR1	chr11:17427296-17427643	T-47D	breast:	n/a	n/a
17	NR3C1	chr11:17427090-17427685	A549	lung:	n/a	chr11:17427389-17427403 chr11:17427389-17427404 chr11:17427367-17427376 chr11:17427439-17427452
18	BACH1	chr11:17427153-17427597	H1-hESC	embryonic stem cell:	n/a	n/a
19	EBF1	chr11:17427187-17427569	GM12878	blood:	n/a	chr11:17427401-17427412 chr11:17427435-17427446 chr11:17427381-17427392
20	ESR1	chr11:17427293-17427677	T-47D	breast:	n/a	n/a
21	FOXA2	chr11:17427159-17427628	A549	lung:	n/a	chr11:17427530-17427542
22	CTCF	chr11:17427014-17427634	A549	lung:	n/a	n/a
23	NR3C1	chr11:17427112-17427604	A549	lung:	n/a	chr11:17427389-17427403 chr11:17427389-17427404 chr11:17427367-17427376 chr11:17427439-17427452
24	NR3C1	chr11:17427100-17427649	A549	lung:	n/a	chr11:17427389-17427403 chr11:17427389-17427404 chr11:17427367-17427376 chr11:17427439-17427452
25	EBF1	chr11:17427002-17427654	GM12878	blood:	n/a	chr11:17427401-17427412 chr11:17427435-17427446 chr11:17427381-17427392
26	NR2F2	chr11:17427204-17427744	MCF-7	breast:	n/a	n/a
27	FOXA1	chr11:17426948-17427747	A549	lung:	n/a	chr11:17427530-17427542
28	FOXA2	chr11:17427201-17427766	A549	lung:	n/a	chr11:17427530-17427542
29	NR3C1	chr11:17427015-17427741	A549	lung:	n/a	chr11:17427389-17427403 chr11:17427389-17427404 chr11:17427367-17427376 chr11:17427439-17427452

No.	Distal block	Cell Line	Cell type
1	chr11:17410494..17411550-chr11:17427166..17427685,3	MCF-7	breast:
2	chr11:17426991..17427860-chr11:17946039..17946557,2	MCF-7	breast:
3	chr11:16977896..16978786-chr11:17426967..17427655,5	MCF-7	breast:
4	chr11:17260522..17261598-chr11:17427013..17427898,6	MCF-7	breast:
5	chr11:17427284..17427815-chr11:17946414..17946944,2	MCF-7	breast:
6	chr11:17426978..17427915-chr11:17791365..17792205,5	MCF-7	breast:
7	chr11:17427090..17427897-chr18:46517244..46517764,2	MCF-7	breast:
8	chr11:17426978..17427915-chr11:17791365..17792221,7	MCF-7	breast:
9	chr11:16977896..16978867-chr11:17426967..17427690,6	MCF-7	breast:
10	chr11:17425857..17428826-chr11:17463749..17466704,2	K562	blood:
11	chr11:17427066..17427830-chr11:17464406..17465035,2	MCF-7	breast:
12	chr11:17418305..17421610-chr11:17424187..17428054,3	K562	blood:

Variant related genes	Relation type
ABCC8	TF binding region
ENSG00000187486	Chromatin interaction
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10766397	0.86[EUR][1000 genomes]
rs10766398	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1319447	0.87[EUR][1000 genomes]
rs2074309	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2106865	0.87[EUR][1000 genomes]
rs2237993	0.87[EUR][1000 genomes]
rs4148625	0.82[AMR][1000 genomes];0.91[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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv517772	chr11:17401134-17427862	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv528959	chr11:17403639-17435214	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17411800-17435000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:17413200-17432400	Weak transcription	Dnd41	blood
3	chr11:17417800-17428200	Weak transcription	Gastric	stomach
4	chr11:17418600-17453600	Weak transcription	Fetal Brain Female	brain
5	chr11:17422000-17427800	Weak transcription	Brain Angular Gyrus	brain
6	chr11:17422000-17428600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:17422000-17435800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:17422600-17427600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:17423800-17427600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:17425200-17428000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:17425400-17427600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:17425600-17428800	Enhancers	Adipose Nuclei	Adipose
13	chr11:17426000-17428000	Enhancers	HSMM	muscle
14	chr11:17426000-17428800	Enhancers	Lung	lung
15	chr11:17426200-17429000	Enhancers	Left Ventricle	heart
16	chr11:17426400-17428600	Enhancers	Psoas Muscle	Psoas
17	chr11:17426600-17429600	Enhancers	Pancreas	Pancrea
18	chr11:17426800-17427600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr11:17426800-17427800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr11:17426800-17428000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:17426800-17428000	Enhancers	NHDF-Ad	bronchial
22	chr11:17426800-17428200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr11:17426800-17428200	Enhancers	Fetal Intestine Small	intestine
24	chr11:17426800-17428200	Enhancers	HSMMtube	muscle
25	chr11:17426800-17428400	Enhancers	Brain Hippocampus Middle	brain
26	chr11:17426800-17428400	Enhancers	Fetal Muscle Leg	muscle
27	chr11:17426800-17428400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr11:17426800-17428600	Enhancers	Spleen	Spleen
29	chr11:17426800-17428800	Enhancers	Right Ventricle	heart
30	chr11:17427000-17427600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr11:17427000-17427600	Enhancers	Placenta	Placenta
32	chr11:17427000-17427600	Flanking Active TSS	A549	lung
33	chr11:17427000-17427600	Enhancers	Hela-S3	cervix
34	chr11:17427000-17427800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:17427000-17428000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr11:17427000-17428000	Enhancers	Fetal Intestine Large	intestine
37	chr11:17427000-17428200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:17427000-17428400	Genic enhancers	Brain Inferior Temporal Lobe	brain
39	chr11:17427000-17428400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr11:17427200-17427600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:17427200-17427600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:17427200-17427600	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr11:17427200-17427600	Flanking Active TSS	GM12878-XiMat	blood
44	chr11:17427200-17427600	Flanking Active TSS	HepG2	liver
45	chr11:17427200-17427600	Enhancers	HUVEC	blood vessel
46	chr11:17427200-17428000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:17427200-17428000	Enhancers	Stomach Mucosa	stomach
48	chr11:17427200-17428200	Enhancers	Colon Smooth Muscle	Colon
49	chr11:17427200-17428200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:17427400-17427600	Flanking Active TSS	K562	blood

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