Variant report

Variant	rs6592518
Chromosome Location	chr11:73000872-73000873
allele	C/G/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	RELA	chr11:72999316-73000910	GM18951	blood:	n/a	chr11:72999958-72999967 chr11:72999958-72999967
2	SP4	chr11:73000514-73000904	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr11:72999646-73001171	SK-N-SH	brain:	n/a	chr11:73000044-73000058 chr11:72999667-72999680 chr11:73000686-73000705
4	RAD21	chr11:73000227-73000963	HCT-116	colon:	n/a	chr11:73000686-73000705
5	EP300	chr11:72999640-73000970	A549	lung:	n/a	chr11:73000292-73000306 chr11:73000552-73000566
6	TCF12	chr11:72999607-73001038	A549	lung:	n/a	chr11:73000051-73000058
7	ELF1	chr11:73000454-73000899	A549	lung:	n/a	n/a
8	BCL3	chr11:73000235-73000980	A549	lung:	n/a	chr11:73000557-73000566
9	RAD21	chr11:72999796-73001009	A549	lung:	n/a	chr11:73000044-73000058 chr11:73000686-73000705
10	BCLAF1	chr11:73000443-73000874	GM12878	blood:	n/a	chr11:73000557-73000566
11	KAP1	chr11:73000039-73000886	HEK293	kidney:	n/a	n/a
12	ZBTB7A	chr11:73000278-73000991	ECC-1	luminal epithelium:	n/a	n/a
13	CTCF	chr11:72999902-73001152	SK-N-SH	brain:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
14	CTCF	chr11:73000489-73000885	ECC-1	luminal epithelium:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
15	SMC3	chr11:73000040-73000898	Hela-S3	cervix:	n/a	n/a
16	RAD21	chr11:73000415-73000962	ECC-1	luminal epithelium:	n/a	chr11:73000686-73000705
17	BCLAF1	chr11:73000332-73000936	GM12878	blood:	n/a	chr11:73000557-73000566
18	SP1	chr11:72999621-73000938	A549	lung:	n/a	chr11:73000324-73000336 chr11:73000326-73000335 chr11:73000325-73000334 chr11:73000324-73000336
19	IRF4	chr11:73000304-73000932	GM12878	blood:	n/a	n/a
20	RAD21	chr11:73000356-73000955	A549	lung:	n/a	chr11:73000686-73000705
21	CTCF	chr11:73000146-73000878	GM19238	blood:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
22	SPI1	chr11:73000090-73000933	GM12878	blood:	n/a	chr11:73000553-73000562 chr11:73000557-73000566
23	ATF3	chr11:73000033-73000905	A549	lung:	n/a	n/a
24	CTCF	chr11:73000493-73000934	T-47D	breast:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
25	CHD1	chr11:72999902-73001197	IMR90	lung:	n/a	n/a
26	CTCF	chr11:73000113-73001081	HCT-116	colon:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
27	PML	chr11:73000268-73000951	GM12878	blood:	n/a	n/a
28	RELA	chr11:72999171-73000956	GM12891	blood:	n/a	chr11:72999958-72999967 chr11:72999958-72999967
29	RAD21	chr11:73000073-73000896	GM12878	blood:	n/a	chr11:73000686-73000705
30	CTCF	chr11:73000446-73000881	A549	lung:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
31	RELA	chr11:72999790-73000872	GM15510	blood:	n/a	chr11:72999958-72999967 chr11:72999958-72999967
32	MAX	chr11:72999694-73000932	A549	lung:	n/a	n/a
33	MAX	chr11:72999626-73001013	A549	lung:	n/a	n/a
34	CTCF	chr11:73000015-73001039	K562	blood:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
35	MAZ	chr11:72999731-73001101	IMR90	lung:	n/a	n/a
36	YY1	chr11:73000474-73000875	GM12878	blood:	n/a	n/a
37	RAD21	chr11:73000350-73000956	H1-hESC	embryonic stem cell:	n/a	chr11:73000686-73000705
38	CTCF	chr11:73000517-73000873	GM12878	blood:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
39	CTCF	chr11:73000429-73000915	HepG2	liver:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
40	RAD21	chr11:73000022-73001017	ECC-1	luminal epithelium:	n/a	chr11:73000044-73000058 chr11:73000686-73000705
41	RELA	chr11:72999851-73000921	GM10847	blood:	n/a	chr11:72999958-72999967 chr11:72999958-72999967
42	CTCF	chr11:73000375-73001086	HCT-116	colon:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
43	CTCF	chr11:73000457-73000904	H1-hESC	embryonic stem cell:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
44	EBF1	chr11:72999393-73001134	GM12878	blood:	n/a	chr11:73000734-73000744 chr11:73000735-73000744 chr11:73000733-73000744 chr11:73000733-73000746
45	CTCF	chr11:73000081-73000913	GM12878	blood:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
46	RAD21	chr11:73000273-73000964	MCF-7	breast:	n/a	chr11:73000686-73000705
47	GATA3	chr11:72999598-73000998	A549	lung:	n/a	n/a
48	NR2F2	chr11:72999585-73000915	MCF-7	breast:	n/a	n/a
49	RAD21	chr11:72999930-73000986	IMR90	lung:	n/a	chr11:73000044-73000058 chr11:73000686-73000705
50	MTA3	chr11:73000088-73001050	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72929173..72930027-chr11:73000290..73000931,3	MCF-7	breast:
2	chr11:72999826..73001894-chr11:73086497..73088526,2	K562	blood:
3	chr11:72996129..72998235-chr11:73000749..73003241,2	MCF-7	breast:
4	chr11:73000200..73002176-chr11:73003016..73005569,2	K562	blood:
5	chr11:72953739..72954341-chr11:73000494..73001410,2	MCF-7	breast:

Variant related genes	Relation type
P2RY6	TF binding region
ENSG00000171631	Chromatin interaction
ENSG00000175591	Chromatin interaction
ENSG00000054967	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12796417	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12798517	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61893754	0.81[AFR][1000 genomes]
rs7127013	1.00[YRI][hapmap]
rs7127705	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72996400-73001000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:72997000-73003400	Enhancers	Fetal Intestine Large	intestine
3	chr11:72997200-73001000	Genic enhancers	Fetal Intestine Small	intestine
4	chr11:72998200-73001000	Enhancers	Fetal Heart	heart
5	chr11:72998200-73001000	Enhancers	Left Ventricle	heart
6	chr11:72998400-73001200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr11:72998400-73003600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:72998600-73001000	Enhancers	Primary hematopoietic stem cells	blood
9	chr11:72998600-73001600	Enhancers	Primary B cells from cord blood	blood
10	chr11:72998600-73002000	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:72998800-73001000	Enhancers	Stomach Mucosa	stomach
12	chr11:72998800-73001200	Enhancers	HUVEC	blood vessel
13	chr11:72999000-73004600	Enhancers	Spleen	Spleen
14	chr11:72999200-73002600	Enhancers	Placenta	Placenta
15	chr11:72999400-73001000	Enhancers	HMEC	breast
16	chr11:72999400-73001000	Enhancers	NH-A	brain
17	chr11:72999600-73001000	Enhancers	NHDF-Ad	bronchial
18	chr11:72999800-73001000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:72999800-73001000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr11:72999800-73001000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:72999800-73001000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:72999800-73001000	Enhancers	Liver	Liver
23	chr11:72999800-73001000	Enhancers	Fetal Lung	lung
24	chr11:72999800-73001000	Flanking Active TSS	Osteobl	bone
25	chr11:72999800-73001200	Enhancers	Brain Anterior Caudate	brain
26	chr11:72999800-73001200	Flanking Active TSS	GM12878-XiMat	blood
27	chr11:72999800-73005000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr11:73000000-73001000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr11:73000000-73001000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr11:73000000-73001000	Enhancers	Brain Angular Gyrus	brain
31	chr11:73000000-73001000	Enhancers	Brain Substantia Nigra	brain
32	chr11:73000200-73001000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr11:73000200-73001000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr11:73000200-73001000	Flanking Active TSS	Hela-S3	cervix
35	chr11:73000400-73001000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:73000400-73001000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:73000600-73001000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:73000600-73001000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:73000600-73001000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:73000600-73001000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:73000600-73001000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:73000600-73001000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr11:73000600-73001000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr11:73000600-73001000	Enhancers	Fetal Stomach	stomach
45	chr11:73000600-73001200	Enhancers	Fetal Muscle Leg	muscle
46	chr11:73000600-73003000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:73000600-73003000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:73000600-73003400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:73000600-73003400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:73000600-73011200	Weak transcription	Aorta	Aorta

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