Variant report

Variant	rs74053503
Chromosome Location	chr11:3859609-3859610
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	POLR2A	chr11:3858207-3861633	K562	blood:	n/a	n/a
2	NR2F2	chr11:3858115-3859693	K562	blood:	n/a	n/a
3	MTA3	chr11:3859113-3859638	GM12878	blood:	n/a	n/a
4	STAT5A	chr11:3859402-3859770	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:3857975-3863299	HL-60	blood:	n/a	n/a
6	TBL1XR1	chr11:3858656-3859897	K562	blood:	n/a	n/a
7	RELA	chr11:3858186-3859848	GM18951	blood:	n/a	chr11:3858452-3858461 chr11:3858452-3858461
8	STAT5A	chr11:3857986-3861715	GM12878	blood:	n/a	chr11:3859111-3859119 chr11:3860364-3860371 chr11:3858748-3858760 chr11:3861097-3861109 chr11:3861092-3861104 chr11:3858480-3858488
9	POLR2A	chr11:3858895-3859867	K562	blood:	n/a	n/a
10	MTA3	chr11:3858135-3861988	GM12878	blood:	n/a	n/a
11	SPI1	chr11:3859595-3860213	HL-60	blood:	n/a	chr11:3859802-3859815 chr11:3859946-3859959 chr11:3859899-3859912
12	POLR2A	chr11:3858343-3861070	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:3859459-3859930	K562	blood:	n/a	n/a
14	POLR2A	chr11:3857977-3863208	HL-60	blood:	n/a	n/a
15	JUN	chr11:3858796-3863593	K562	blood:	n/a	chr11:3862182-3862191
16	POLR2A	chr11:3858123-3859756	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:3858204-3863267	GM12891	blood:	n/a	n/a
18	POLR2A	chr11:3858111-3859949	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:3858415-3859672	K562	blood:	n/a	n/a
20	POLR2A	chr11:3858201-3859921	PFSK-1	brain:	n/a	n/a
21	RCOR1	chr11:3859114-3859949	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:3858034-3863163	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:3858166-3863259	GM12878	blood:	n/a	n/a
24	WRNIP1	chr11:3858200-3861758	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:3858058-3863264	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3857735..3860667-chr11:4115366..4118226,4	K562	blood:
2	chr11:3856690..3859651-chr11:3923487..3926429,2	K562	blood:
3	chr11:3857497..3860664-chr11:3860718..3863734,5	MCF-7	breast:
4	chr11:3844970..3847923-chr11:3859030..3861537,2	MCF-7	breast:
5	chr11:3858623..3864245-chr11:3874959..3879217,11	K562	blood:
6	chr11:3815959..3820545-chr11:3854514..3864703,12	K562	blood:
7	chr11:3856690..3859651-chr11:3923487..3926429,3	K562	blood:
8	chr11:3849679..3852427-chr11:3857785..3859951,2	MCF-7	breast:

Variant related genes	Relation type
RHOG	TF binding region
ENSG00000148985	Chromatin interaction
ENSG00000177105	Chromatin interaction
ENSG00000229368	Chromatin interaction
ENSG00000167325	Chromatin interaction
ENSG00000167323	Chromatin interaction
ENSG00000263421	Chromatin interaction
ENSG00000110713	Chromatin interaction
ENSG00000228661	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16929738	1.00[AMR][1000 genomes]
rs16929761	1.00[AMR][1000 genomes]
rs17173880	1.00[AMR][1000 genomes]
rs34160712	1.00[AMR][1000 genomes]
rs55726541	1.00[AMR][1000 genomes]
rs7126968	1.00[AMR][1000 genomes]
rs74050208	1.00[AMR][1000 genomes]
rs74050302	1.00[AMR][1000 genomes]
rs7937476	1.00[AMR][1000 genomes]
rs7941740	1.00[AMR][1000 genomes]
rs9666326	1.00[AMR][1000 genomes]
rs9666327	1.00[AMR][1000 genomes]
rs9666328	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1038220	chr11:3818041-3860024	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv1044882	chr11:3828986-3860024	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1044360	chr11:3832288-3860024	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv1046325	chr11:3856201-3895148	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1039059	chr11:3856201-3909415	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
13	nsv540910	chr11:3856201-3909415	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1051580	chr11:3856201-3924216	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
15	nsv1043265	chr11:3856201-3926407	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3830600-3861000	Weak transcription	Fetal Kidney	kidney
2	chr11:3848400-3861000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:3849600-3861000	Weak transcription	HSMMtube	muscle
4	chr11:3852200-3859800	Enhancers	Right Ventricle	heart
5	chr11:3852200-3860800	Enhancers	Small Intestine	intestine
6	chr11:3852400-3859800	Weak transcription	Fetal Brain Female	brain
7	chr11:3852600-3860400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
8	chr11:3853600-3860800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:3854200-3860000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:3854600-3860200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:3854600-3860800	Enhancers	Placenta	Placenta
12	chr11:3855000-3860600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr11:3855200-3860600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr11:3855200-3860800	Enhancers	Brain Angular Gyrus	brain
15	chr11:3855200-3862000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:3855400-3860600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr11:3855400-3861000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr11:3855600-3860200	Enhancers	Left Ventricle	heart
19	chr11:3855600-3860600	Genic enhancers	Fetal Muscle Leg	muscle
20	chr11:3856000-3860800	Enhancers	HUVEC	blood vessel
21	chr11:3856200-3860400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr11:3856200-3860800	Genic enhancers	Fetal Stomach	stomach
23	chr11:3856200-3861400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr11:3856200-3861400	Weak transcription	Aorta	Aorta
25	chr11:3856600-3860200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:3856800-3860400	Weak transcription	Brain Germinal Matrix	brain
27	chr11:3856800-3860800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:3856800-3861000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:3857000-3859800	Enhancers	Lung	lung
30	chr11:3857000-3859800	Enhancers	Spleen	Spleen
31	chr11:3857000-3860400	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr11:3857000-3860800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:3857200-3860200	Weak transcription	NH-A	brain
34	chr11:3857200-3860600	Weak transcription	HSMM	muscle
35	chr11:3857200-3860800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr11:3857200-3860800	Weak transcription	Psoas Muscle	Psoas
37	chr11:3857200-3861000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:3857400-3861400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr11:3857600-3860600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:3857600-3860800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:3857600-3861600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:3857800-3861600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr11:3857800-3861800	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr11:3858000-3860200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:3858200-3859800	Enhancers	Right Atrium	heart
46	chr11:3858200-3860000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:3858200-3860400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:3858200-3860400	Flanking Active TSS	GM12878-XiMat	blood
49	chr11:3858200-3860600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:3858200-3860600	Flanking Active TSS	Primary T cells from cord blood	blood

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