Variant report

Variant	rs59817450
Chromosome Location	chr11:64216389-64216390
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	CTCF	chr11:64216380-64216530	Caco-2	colon:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
2	CTCF	chr11:64216320-64216470	BE2_C	brain:	n/a	chr11:64216459-64216467 chr11:64216457-64216470
3	RAD21	chr11:64216314-64216664	A549	lung:	n/a	chr11:64216456-64216470 chr11:64216526-64216539 chr11:64216457-64216464 chr11:64216549-64216561 chr11:64216455-64216474
4	TCF12	chr11:64216286-64217469	A549	lung:	n/a	n/a
5	CTCF	chr11:64216295-64216632	GM10248	blood:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
6	MTA3	chr11:64215446-64216544	GM12878	blood:	n/a	n/a
7	CTCF	chr11:64216380-64216530	GM12874	blood:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
8	CTCF	chr11:64216225-64216650	GM19238	blood:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
9	RFX5	chr11:64216285-64216616	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr11:64216309-64216680	GM10266	blood:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
11	CTCFL	chr11:64216370-64216531	K562	blood:	n/a	chr11:64216484-64216493
12	SMARCB1	chr11:64216240-64217311	Hela-S3	cervix:	n/a	n/a
13	RAD21	chr11:64216228-64216642	HepG2	liver:	n/a	chr11:64216456-64216470 chr11:64216526-64216539 chr11:64216457-64216464 chr11:64216549-64216561 chr11:64216455-64216474
14	CTCF	chr11:64216360-64216510	AG10803	skin:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
15	CTCF	chr11:64216285-64216643	Spleen_OC	spleen:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
16	CHD2	chr11:64216301-64216598	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr11:64216360-64216510	HPAF	blood vessel:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
18	CTCF	chr11:64216380-64216530	GM12864	blood:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
19	CTCF	chr11:64216340-64216490	A549	lung:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
20	CTCF	chr11:64216380-64216530	HBMEC	blood vessel:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
21	ZKSCAN1	chr11:64216334-64216548	Hela-S3	cervix:	n/a	n/a
22	MYC	chr11:64215514-64216647	NB4	blood:	n/a	chr11:64215915-64215925 chr11:64216487-64216497
23	SMC3	chr11:64215714-64216660	GM12878	blood:	n/a	chr11:64216456-64216470
24	CTCF	chr11:64216360-64216510	BJ	skin:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
25	MAX	chr11:64216328-64216609	K562	blood:	n/a	chr11:64216487-64216497
26	CTCF	chr11:64216360-64216510	HA-sp	spinal cord:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
27	REST	chr11:64216141-64216644	PFSK-1	brain:	n/a	chr11:64216322-64216335
28	CBX3	chr11:64216248-64216661	K562	blood:	n/a	n/a
29	CTCF	chr11:64216349-64216593	Medullo	brain:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
30	CTCF	chr11:64216340-64216490	NHEK	skin:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
31	CTCF	chr11:64216360-64216510	HCPEpiC	choroid plexus:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
32	CTCF	chr11:64216380-64216530	HEEpiC	esophagus:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
33	CTCF	chr11:64216360-64216510	HVMF	connective:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
34	MAX	chr11:64215549-64216659	NB4	blood:	n/a	chr11:64215915-64215925 chr11:64216487-64216497
35	CTCF	chr11:64216332-64216609	H1-hESC	embryonic stem cell:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
36	RAD21	chr11:64216226-64216664	A549	lung:	n/a	chr11:64216456-64216470 chr11:64216526-64216539 chr11:64216457-64216464 chr11:64216549-64216561 chr11:64216455-64216474
37	RCOR1	chr11:64216311-64216638	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr11:64216360-64216510	NHDF-neo	bronchial:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
39	CTCF	chr11:64216380-64216530	GM12873	blood:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
40	FOXM1	chr11:64216228-64216704	GM12878	blood:	n/a	n/a
41	CTCF	chr11:64216340-64216490	HCM	heart:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
42	CREB1	chr11:64216218-64216810	A549	lung:	n/a	n/a
43	STAT5A	chr11:64216371-64216744	GM12878	blood:	n/a	n/a
44	SIN3AK20	chr11:64216343-64216657	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr11:64216313-64216656	HepG2	liver:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
46	CTCF	chr11:64215988-64217681	HCT-116	colon:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
47	RAD21	chr11:64215531-64217509	SK-N-SH	brain:	n/a	chr11:64216456-64216470 chr11:64216526-64216539 chr11:64216457-64216464 chr11:64216549-64216561 chr11:64216455-64216474
48	TBL1XR1	chr11:64216330-64216485	K562	blood:	n/a	n/a
49	CTCF	chr11:64216327-64216615	HepG2	liver:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
50	MAX	chr11:64215896-64216606	Hela-S3	cervix:	n/a	chr11:64215915-64215925 chr11:64216487-64216497

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64216380-64216430	HRCEpiC	kidney:	n/a
2	chr11:64216380-64216430	BJ	skin:	n/a
3	chr11:64216380-64216430	HL-60	blood:	n/a
4	chr11:64216380-64216430	T-47D	breast:	n/a
5	chr11:64216380-64216430	SK-N-SH	brain:	n/a
6	chr11:64216380-64216430	HCPEpiC	choroid plexus:	n/a
7	chr11:64216380-64216430	AG04450	lung:	fetal
8	chr11:64216380-64216430	HCF	heart:	n/a
9	chr11:64216380-64216430	HIPEpiC	eye:	n/a
10	chr11:64216380-64216430	MCF10A-Er-Src	breast:	n/a
11	chr11:64216380-64216430	Caco-2	colon:	n/a
12	chr11:64216380-64216430	HCT-116	colon:	n/a
13	chr11:64216380-64216430	PrEC	prostate:	n/a
14	chr11:64216380-64216430	Jurkat	blood:	n/a
15	chr11:64216380-64216430	NB4	blood:	n/a
16	chr11:64216380-64216430	HEEpiC	esophagus:	n/a
17	chr11:64216380-64216430	IMR90	lung:	fetal
18	chr11:64216380-64216430	HNPCEpiC	eye:	n/a
19	chr11:64216380-64216430	K562	blood:	n/a
20	chr11:64216380-64216430	H1-hESC	embryonic stem cell:	embryo
21	chr11:64216380-64216430	SK-N-SH_RA	brain:	n/a
22	chr11:64216380-64216430	AG09309	skin:	n/a
23	chr11:64216380-64216430	CMK	blood:	n/a
24	chr11:64216380-64216430	HMEC	breast:	n/a
25	chr11:64216380-64216430	AG04449	skin:	fetal
26	chr11:64216380-64216430	NT2-D1	testis:	n/a
27	chr11:64216380-64216430	HRPEpiC	eye:	n/a
28	chr11:64216380-64216430	HCM	heart:	n/a
29	chr11:64216380-64216430	HUVEC	blood vessel:	n/a
30	chr11:64216380-64216430	PFSK-1	brain:	n/a
31	chr11:64216380-64216430	NHBE	bronchial:	n/a
32	chr11:64216380-64216430	GM12878	blood:	n/a
33	chr11:64216380-64216430	Hepatocyte	liver:	n/a
34	chr11:64216380-64216430	GM19239	blood:	n/a
35	chr11:64216380-64216430	AoSMC	blood vessel:	n/a
36	chr11:64216380-64216430	ECC-1	luminal epithelium:	n/a
37	chr11:64216380-64216430	ovcar-3	ovarian:	n/a
38	chr11:64216380-64216430	SAEC	small airway:	n/a
39	chr11:64216380-64216430	A549	lung:	n/a
40	chr11:64216380-64216430	HAEpiC	amniotic membrane:	n/a
41	chr11:64216380-64216430	ProgFib	skin:	n/a
42	chr11:64216380-64216430	SK-N-MC	brain:	n/a
43	chr11:64216380-64216430	AG09319	gingival:	n/a
44	chr11:64216380-64216430	BE2_C	brain:	n/a
45	chr11:64216380-64216430	PANC-1	pancreas:	n/a
46	chr11:64216380-64216430	AG10803	skin:	n/a
47	chr11:64216380-64216430	RPTEC	kidney:	n/a
48	chr11:64216380-64216430	NH-A	brain:	n/a
49	chr11:64216380-64216430	SKMC	muscle:	n/a
50	chr11:64216380-64216430	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64122273..64122886-chr11:64216141..64216666,2	K562	blood:
2	chr11:64125330..64128537-chr11:64215213..64218115,3	MCF-7	breast:
3	chr11:64071995..64074529-chr11:64215478..64217997,2	K562	blood:
4	chr11:64122365..64123400-chr11:64216043..64217247,4	MCF-7	breast:
5	chr11:64109734..64110285-chr11:64215936..64216556,2	MCF-7	breast:
6	chr11:64124989..64126699-chr11:64216058..64218143,2	K562	blood:

Variant related genes	Relation type
ENSG00000181908	TF binding region
ENSG00000181908	CpG island
ENSG00000162302	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000173153	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12286249	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs539810	0.82[ASN][1000 genomes]
rs60200610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60630604	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv555194	chr11:64189110-64238023	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64215000-64218200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:64215200-64216400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:64215200-64216400	Bivalent Enhancer	NH-A	brain
4	chr11:64215200-64216800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:64215200-64216800	Active TSS	Aorta	Aorta
6	chr11:64215200-64217000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:64215200-64217000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr11:64215200-64217200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:64215200-64217200	Flanking Active TSS	Liver	Liver
10	chr11:64215200-64217400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:64215200-64217400	Flanking Active TSS	Fetal Brain Female	brain
12	chr11:64215200-64217600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr11:64215200-64217600	Enhancers	Fetal Brain Male	brain
14	chr11:64215400-64216400	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr11:64215400-64216400	Bivalent Enhancer	Fetal Stomach	stomach
16	chr11:64215400-64217000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:64215400-64217200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr11:64215400-64217200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr11:64215400-64217200	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr11:64215400-64217200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr11:64215400-64217200	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr11:64215400-64217200	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr11:64215400-64217200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr11:64215400-64217400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:64215400-64217400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:64215600-64216400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr11:64215600-64216400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:64215600-64216400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:64215600-64216600	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr11:64215600-64216600	Bivalent Enhancer	HepG2	liver
31	chr11:64215600-64217000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr11:64215600-64217000	Flanking Active TSS	GM12878-XiMat	blood
33	chr11:64215600-64217200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr11:64215600-64217200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr11:64215600-64217200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr11:64215600-64217200	Flanking Active TSS	Hela-S3	cervix
37	chr11:64215800-64216400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr11:64215800-64216400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr11:64215800-64216400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:64215800-64216400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:64215800-64216400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:64215800-64216400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:64215800-64216400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:64215800-64216400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr11:64215800-64216400	Enhancers	Left Ventricle	heart
46	chr11:64215800-64216400	Enhancers	NHEK	skin
47	chr11:64215800-64216600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:64215800-64216600	Enhancers	Brain Substantia Nigra	brain
49	chr11:64215800-64216800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:64215800-64216800	Active TSS	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links