Variant report

Variant	rs3909167
Chromosome Location	chr11:67124992-67124993
allele	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	POLR2A	chr11:67124421-67125030	A549	lung:	n/a	n/a
2	POLR2A	chr11:67124211-67125031	HCT-116	colon:	n/a	n/a
3	SMARCC1	chr11:67123934-67125741	Hela-S3	cervix:	n/a	chr11:67124890-67124899
4	TCF12	chr11:67124399-67125184	ECC-1	luminal epithelium:	n/a	chr11:67124505-67124512
5	CHD1	chr11:67123825-67126117	IMR90	lung:	n/a	n/a
6	CTCF	chr11:67124027-67125017	HCT-116	colon:	n/a	chr11:67124502-67124511 chr11:67124499-67124517 chr11:67124501-67124522 chr11:67124755-67124764
7	POLR2A	chr11:67124661-67125086	Hela-S3	cervix:	n/a	n/a
8	SMC3	chr11:67123874-67125066	SK-N-SH	brain:	n/a	chr11:67124501-67124508 chr11:67124751-67124765 chr11:67124501-67124515
9	MAX	chr11:67124908-67125023	A549	lung:	n/a	n/a
10	JUND	chr11:67124075-67125948	SK-N-SH	brain:	n/a	chr11:67124889-67124899 chr11:67124506-67124517 chr11:67124890-67124898 chr11:67125484-67125495 chr11:67125484-67125496 chr11:67124889-67124899 chr11:67125485-67125495 chr11:67124889-67124899 chr11:67124780-67124791 chr11:67125486-67125493 chr11:67125486-67125495 chr11:67124889-67124899 chr11:67125485-67125495
11	RAD21	chr11:67123451-67125212	HCT-116	colon:	n/a	chr11:67124500-67124519 chr11:67124030-67124042 chr11:67124501-67124510
12	POLR2A	chr11:67124235-67125700	U87	brain:	n/a	n/a
13	POLR2A	chr11:67124123-67125700	U87	brain:	n/a	n/a
14	JUND	chr11:67124194-67125089	A549	lung:	n/a	chr11:67124889-67124899 chr11:67124780-67124791 chr11:67124889-67124899 chr11:67124889-67124899 chr11:67124890-67124898 chr11:67124506-67124517 chr11:67124889-67124899
15	FOS	chr11:67124803-67125027	MCF10A-Er-Src	breast:	n/a	chr11:67124889-67124899 chr11:67124889-67124899 chr11:67124889-67124899 chr11:67124890-67124898 chr11:67124889-67124899
16	POLR2A	chr11:67119871-67126178	U87	brain:	n/a	n/a
17	FOS	chr11:67124827-67125001	MCF10A-Er-Src	breast:	n/a	chr11:67124889-67124899 chr11:67124889-67124899 chr11:67124889-67124899 chr11:67124890-67124898 chr11:67124889-67124899
18	SP1	chr11:67124216-67125668	A549	lung:	n/a	chr11:67124471-67124478
19	POLR2A	chr11:67119865-67126303	U87	brain:	n/a	n/a
20	SPI1	chr11:67124270-67125378	HL-60	blood:	n/a	chr11:67124271-67124284
21	RAD21	chr11:67123796-67125315	SK-N-SH	brain:	n/a	chr11:67124500-67124519 chr11:67124030-67124042 chr11:67124501-67124510
22	TCF12	chr11:67123767-67125872	A549	lung:	n/a	chr11:67124505-67124512
23	POLR2A	chr11:67124731-67125001	A549	lung:	n/a	n/a
24	SP1	chr11:67124232-67125243	A549	lung:	n/a	chr11:67124471-67124478
25	EBF1	chr11:67124759-67125094	GM12878	blood:	n/a	n/a
26	MAX	chr11:67124358-67125109	NB4	blood:	n/a	n/a
27	EP300	chr11:67124086-67125104	A549	lung:	n/a	chr11:67124267-67124280
28	POLR2A	chr11:67124718-67125035	A549	lung:	n/a	n/a
29	MAX	chr11:67124214-67125757	A549	lung:	n/a	chr11:67125154-67125164
30	POLR2A	chr11:67124704-67124994	Hela-S3	cervix:	n/a	n/a
31	FOSL2	chr11:67124156-67125759	A549	lung:	n/a	chr11:67125486-67125493 chr11:67124889-67124899 chr11:67124780-67124791 chr11:67125485-67125495 chr11:67124889-67124899 chr11:67125484-67125496 chr11:67124889-67124899 chr11:67124890-67124898 chr11:67125485-67125495 chr11:67125486-67125495 chr11:67124506-67124517 chr11:67124889-67124899
32	CTCF	chr11:67123612-67125031	SK-N-SH	brain:	n/a	chr11:67124502-67124511 chr11:67124499-67124517 chr11:67124501-67124522 chr11:67124755-67124764
33	MAX	chr11:67124214-67125835	A549	lung:	n/a	chr11:67125154-67125164
34	STAT1	chr11:67124038-67125440	Hela-S3	cervix:	n/a	chr11:67124453-67124464 chr11:67124455-67124463 chr11:67124449-67124469 chr11:67124454-67124463 chr11:67124455-67124464
35	FOSL2	chr11:67124282-67125065	A549	lung:	n/a	chr11:67124889-67124899 chr11:67124780-67124791 chr11:67124889-67124899 chr11:67124889-67124899 chr11:67124890-67124898 chr11:67124506-67124517 chr11:67124889-67124899
36	CTCF	chr11:67124083-67125586	A549	lung:	n/a	chr11:67124502-67124511 chr11:67124499-67124517 chr11:67124501-67124522 chr11:67124755-67124764
37	REST	chr11:67124619-67125119	A549	lung:	n/a	n/a
38	POLR2A	chr11:67124359-67125107	HUVEC	blood vessel:	n/a	n/a
39	MTA3	chr11:67123220-67124996	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:67124295-67125129	A549	lung:	n/a	n/a
41	RAD21	chr11:67124080-67125158	HCT-116	colon:	n/a	chr11:67124500-67124519 chr11:67124501-67124510
42	BCL3	chr11:67124120-67126027	A549	lung:	n/a	chr11:67125485-67125494
43	FOS	chr11:67124403-67125709	HUVEC	blood vessel:	n/a	chr11:67125486-67125493 chr11:67124889-67124899 chr11:67124780-67124791 chr11:67125485-67125495 chr11:67125484-67125495 chr11:67124889-67124899 chr11:67125484-67125496 chr11:67124889-67124899 chr11:67124890-67124898 chr11:67125485-67125495 chr11:67125486-67125495 chr11:67124506-67124517 chr11:67124889-67124899

No.	Distal block	Cell Line	Cell type
1	chr11:67032700..67034613-chr11:67124238..67125805,2	K562	blood:
2	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:
3	chr11:67119765..67126816-chr11:67129168..67134805,10	K562	blood:
4	chr11:67123845..67125865-chr11:67186294..67189193,2	K562	blood:
5	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:
6	chr11:67124441..67126848-chr11:67209187..67211107,2	K562	blood:
7	chr11:67124312..67125028-chr11:67273279..67274094,2	MCF-7	breast:
8	chr11:67124495..67124996-chr11:67138599..67139534,2	MCF-7	breast:
9	chr11:67075683..67087551-chr11:67114391..67125856,27	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAD9A-4	chr11:67121054-67126866	NONHSAT022409

Variant related genes	Relation type
RN7SKP239	TF binding region
POLD4	TF binding region
ENSG00000201684	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000172508	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000172531	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72930778	0.91[AMR][1000 genomes]
rs72932715	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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 target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 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	chr11:67121000-67126000	Enhancers	Spleen	Spleen
2	chr11:67121200-67125000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:67121200-67125000	Enhancers	Lung	lung
4	chr11:67121200-67125000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr11:67121400-67125400	Flanking Active TSS	Hela-S3	cervix
6	chr11:67121600-67125000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr11:67121600-67125000	Enhancers	Gastric	stomach
8	chr11:67121600-67125200	Flanking Active TSS	A549	lung
9	chr11:67121600-67125800	Enhancers	Fetal Muscle Trunk	muscle
10	chr11:67121600-67126200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:67121600-67126400	Enhancers	Placenta	Placenta
12	chr11:67121600-67132600	Weak transcription	Fetal Brain Female	brain
13	chr11:67121800-67125000	Enhancers	Left Ventricle	heart
14	chr11:67121800-67125000	Enhancers	Ovary	ovary
15	chr11:67121800-67125000	Enhancers	Pancreas	Pancrea
16	chr11:67121800-67125400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr11:67121800-67125600	Enhancers	Adipose Nuclei	Adipose
18	chr11:67121800-67125800	Enhancers	Fetal Intestine Large	intestine
19	chr11:67121800-67126000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:67121800-67126000	Enhancers	Right Atrium	heart
21	chr11:67121800-67126000	Enhancers	NHEK	skin
22	chr11:67121800-67126200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:67121800-67126200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:67121800-67126200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:67121800-67126200	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:67121800-67126200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:67121800-67126200	Enhancers	Fetal Muscle Leg	muscle
28	chr11:67121800-67126200	Enhancers	Fetal Stomach	stomach
29	chr11:67121800-67126200	Enhancers	HMEC	breast
30	chr11:67121800-67126600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:67121800-67132800	Weak transcription	Fetal Brain Male	brain
32	chr11:67122000-67125200	Enhancers	Right Ventricle	heart
33	chr11:67122000-67125400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:67122000-67125400	Enhancers	Colon Smooth Muscle	Colon
35	chr11:67122000-67126000	Enhancers	NHDF-Ad	bronchial
36	chr11:67122200-67125000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:67122200-67125200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:67122200-67125600	Enhancers	Brain Hippocampus Middle	brain
39	chr11:67122200-67126000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr11:67122200-67126200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:67122600-67125400	Enhancers	Liver	Liver
42	chr11:67122600-67125600	Enhancers	HUVEC	blood vessel
43	chr11:67122600-67126000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:67122600-67126200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:67122600-67126200	Enhancers	NHLF	lung
46	chr11:67122600-67126800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:67122600-67128000	Weak transcription	Primary T cells from cord blood	blood
48	chr11:67122800-67125200	Enhancers	Osteobl	bone
49	chr11:67122800-67125800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:67122800-67125800	Enhancers	K562	blood

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