Variant report

Variant	rs2073583
Chromosome Location	chr11:17427336-17427337
allele	C/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	CTCF	chr11:17427216-17427397	MCF-7	breast:	n/a	n/a
2	CTCF	chr11:17427240-17427390	HCFaa	heart:	n/a	n/a
3	CTCF	chr11:17427240-17427390	AG09319	gingival:	n/a	n/a
4	CTCF	chr11:17427213-17427368	A549	lung:	n/a	n/a
5	CTCF	chr11:17427260-17427410	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr11:17427200-17427350	RPTEC	kidney:	n/a	n/a
7	EBF1	chr11:17427186-17427566	GM12878	blood:	n/a	chr11:17427401-17427412 chr11:17427435-17427446 chr11:17427381-17427392
8	EP300	chr11:17427194-17427603	MCF-7	breast:	n/a	n/a
9	CTCF	chr11:17427220-17427370	MCF-7	breast:	n/a	n/a
10	CTCF	chr11:17427216-17427384	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:17427240-17427390	GM12878	blood:	n/a	n/a
12	CTCF	chr11:17427240-17427390	HepG2	liver:	n/a	n/a
13	TCF12	chr11:17427039-17427606	A549	lung:	n/a	chr11:17427162-17427171
14	CTCF	chr11:17427200-17427350	NHDF-neo	bronchial:	n/a	n/a
15	CTCF	chr11:17427166-17427515	K562	blood:	n/a	n/a
16	CTCF	chr11:17427220-17427370	HCPEpiC	choroid plexus:	n/a	n/a
17	JUND	chr11:17427216-17427416	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr11:17427256-17427341	GM12892	blood:	n/a	n/a
19	MYC	chr11:17427258-17427511	MCF10A-Er-Src	breast:	n/a	n/a
20	RAD21	chr11:17427155-17427600	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:17427249-17427459	GM12878	blood:	n/a	n/a
22	CTCF	chr11:17427211-17427337	Kidney_OC	kidney:	n/a	n/a
23	EP300	chr11:17427071-17427480	SK-N-SH_RA	brain:	n/a	chr11:17427156-17427165 chr11:17427152-17427166
24	MAFF	chr11:17427233-17427519	HepG2	liver:	n/a	chr11:17427365-17427383
25	CTCF	chr11:17427216-17427373	MCF-7	breast:	n/a	n/a
26	UBTF	chr11:17427263-17427579	K562	blood:	n/a	n/a
27	NR3C1	chr11:17427199-17427579	A549	lung:	n/a	chr11:17427389-17427403 chr11:17427389-17427404 chr11:17427367-17427376 chr11:17427439-17427452
28	KAP1	chr11:17426954-17427931	U2OS	brain:	n/a	chr11:17426998-17427006
29	TBP	chr11:17427247-17427421	H1-hESC	embryonic stem cell:	n/a	n/a
30	USF1	chr11:17427156-17427619	A549	lung:	n/a	chr11:17427351-17427367
31	BHLHE40	chr11:17427215-17427415	K562	blood:	n/a	chr11:17427351-17427367
32	CTCF	chr11:17427109-17427520	H1-hESC	embryonic stem cell:	n/a	n/a
33	SPI1	chr11:17427314-17427460	K562	blood:	n/a	n/a
34	CTCF	chr11:17427213-17427353	Pancreas_OC	pancreas:	n/a	n/a
35	CTCF	chr11:17427200-17427350	HPF	lung:	n/a	n/a
36	CTCF	chr11:17427220-17427370	HBMEC	blood vessel:	n/a	n/a
37	NR3C1	chr11:17427207-17427609	A549	lung:	n/a	chr11:17427389-17427403 chr11:17427389-17427404 chr11:17427367-17427376 chr11:17427439-17427452
38	CTCF	chr11:17427139-17427461	MCF-7	breast:	n/a	n/a
39	SIN3A	chr11:17427284-17427383	H1-hESC	embryonic stem cell:	n/a	chr11:17427374-17427382
40	USF2	chr11:17427253-17427448	H1-hESC	embryonic stem cell:	n/a	chr11:17427351-17427367
41	CTCF	chr11:17427240-17427390	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr11:17427220-17427370	HAc	cerebellar:	n/a	n/a
43	CTCF	chr11:17427280-17427430	GM12873	blood:	n/a	n/a
44	RAD21	chr11:17427138-17427408	SK-N-SH_RA	brain:	n/a	n/a
45	ZNF143	chr11:17427172-17427403	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr11:17427151-17427391	HepG2	liver:	n/a	n/a
47	CTCF	chr11:17427200-17427350	AG09309	skin:	n/a	n/a
48	CTCF	chr11:17427235-17427347	HepG2	liver:	n/a	n/a
49	RAD21	chr11:17427049-17427566	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAFK	chr11:17427206-17427576	HepG2	liver:	n/a	chr11:17427367-17427377 chr11:17427366-17427381 chr11:17427368-17427377

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
ENSG00000006071	Chromatin interaction
ENSG00000187486	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2077144	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237992	0.85[CEU][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs7947462	0.85[CEU][hapmap];1.00[YRI][hapmap];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:58 , 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	chr11:17423400-17427400	Weak transcription	Right Atrium	heart
10	chr11:17423800-17427600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:17425200-17428000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:17425400-17427600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:17425600-17428800	Enhancers	Adipose Nuclei	Adipose
14	chr11:17425800-17427400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:17426000-17427400	Enhancers	K562	blood
16	chr11:17426000-17428000	Enhancers	HSMM	muscle
17	chr11:17426000-17428800	Enhancers	Lung	lung
18	chr11:17426200-17427400	Weak transcription	Osteobl	bone
19	chr11:17426200-17429000	Enhancers	Left Ventricle	heart
20	chr11:17426400-17428600	Enhancers	Psoas Muscle	Psoas
21	chr11:17426600-17429600	Enhancers	Pancreas	Pancrea
22	chr11:17426800-17427400	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:17426800-17427400	Enhancers	Ovary	ovary
24	chr11:17426800-17427600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr11:17426800-17427800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:17426800-17428000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:17426800-17428000	Enhancers	NHDF-Ad	bronchial
28	chr11:17426800-17428200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr11:17426800-17428200	Enhancers	Fetal Intestine Small	intestine
30	chr11:17426800-17428200	Enhancers	HSMMtube	muscle
31	chr11:17426800-17428400	Enhancers	Brain Hippocampus Middle	brain
32	chr11:17426800-17428400	Enhancers	Fetal Muscle Leg	muscle
33	chr11:17426800-17428400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr11:17426800-17428600	Enhancers	Spleen	Spleen
35	chr11:17426800-17428800	Enhancers	Right Ventricle	heart
36	chr11:17427000-17427400	Flanking Active TSS	Liver	Liver
37	chr11:17427000-17427400	Weak transcription	Brain Substantia Nigra	brain
38	chr11:17427000-17427400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr11:17427000-17427600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:17427000-17427600	Enhancers	Placenta	Placenta
41	chr11:17427000-17427600	Flanking Active TSS	A549	lung
42	chr11:17427000-17427600	Enhancers	Hela-S3	cervix
43	chr11:17427000-17427800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:17427000-17428000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:17427000-17428000	Enhancers	Fetal Intestine Large	intestine
46	chr11:17427000-17428200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:17427000-17428400	Genic enhancers	Brain Inferior Temporal Lobe	brain
48	chr11:17427000-17428400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr11:17427200-17427600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:17427200-17427600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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