Variant report

Variant	rs4910856
Chromosome Location	chr11:3860500-3860501
allele	A/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	chr11:3858207-3861633	K562	blood:	n/a	n/a
2	POLR2A	chr11:3860160-3863143	K562	blood:	n/a	n/a
3	CTCF	chr11:3860360-3860510	HCPEpiC	choroid plexus:	n/a	chr11:3860398-3860407 chr11:3860395-3860413 chr11:3860397-3860418
4	CTCF	chr11:3860400-3860550	NHEK	skin:	n/a	n/a
5	CHD2	chr11:3860066-3861270	GM12878	blood:	n/a	n/a
6	YY1	chr11:3860281-3860732	GM12878	blood:	n/a	n/a
7	TBL1XR1	chr11:3860335-3861247	K562	blood:	n/a	n/a
8	MAZ	chr11:3860356-3863182	GM12878	blood:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487 chr11:3862016-3862026
9	TAF1	chr11:3860376-3860781	GM12878	blood:	n/a	n/a
10	STAT5A	chr11:3860379-3861125	GM12878	blood:	n/a	chr11:3861097-3861109 chr11:3861092-3861104
11	RUNX3	chr11:3860184-3861361	GM12878	blood:	n/a	n/a
12	CTCF	chr11:3860331-3860534	GM12878	blood:	n/a	chr11:3860398-3860407 chr11:3860395-3860413 chr11:3860397-3860418
13	SPI1	chr11:3860414-3860738	HL-60	blood:	n/a	n/a
14	CTCF	chr11:3860400-3860550	HFF	foreskin:	n/a	n/a
15	ZEB1	chr11:3860187-3860782	GM12878	blood:	n/a	n/a
16	MAX	chr11:3860293-3863282	NB4	blood:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487 chr11:3862016-3862026
17	POLR2A	chr11:3860236-3863236	GM19099	blood:	n/a	n/a
18	PML	chr11:3860251-3861016	K562	blood:	n/a	n/a
19	MTA3	chr11:3860151-3861069	GM12878	blood:	n/a	n/a
20	HEY1	chr11:3860392-3860758	K562	blood:	n/a	n/a
21	MAX	chr11:3860326-3861372	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:3860418-3863213	K562	blood:	n/a	n/a
23	ATF2	chr11:3860225-3860755	GM12878	blood:	n/a	n/a
24	PAX5	chr11:3860068-3860996	GM12878	blood:	n/a	chr11:3860940-3860950
25	NFIC	chr11:3860330-3861048	GM12878	blood:	n/a	n/a
26	ELF1	chr11:3860096-3860782	GM12878	blood:	n/a	chr11:3860449-3860462
27	NFATC1	chr11:3860186-3860756	GM12878	blood:	n/a	n/a
28	BHLHE40	chr11:3860387-3861138	K562	blood:	n/a	n/a
29	YY1	chr11:3860286-3860731	K562	blood:	n/a	n/a
30	POLR2A	chr11:3857975-3863299	HL-60	blood:	n/a	n/a
31	RCOR1	chr11:3860339-3861362	K562	blood:	n/a	n/a
32	MAFF	chr11:3860458-3860695	K562	blood:	n/a	n/a
33	YY1	chr11:3860223-3860671	GM12892	blood:	n/a	n/a
34	UBTF	chr11:3860452-3860950	K562	blood:	n/a	n/a
35	POLR2A	chr11:3860287-3863076	GM12878	blood:	n/a	n/a
36	SPI1	chr11:3860219-3861001	HL-60	blood:	n/a	n/a
37	ARID3A	chr11:3860455-3860871	K562	blood:	n/a	n/a
38	MAZ	chr11:3860473-3861174	K562	blood:	n/a	n/a
39	IRF1	chr11:3860435-3860881	K562	blood:	n/a	n/a
40	MAX	chr11:3860262-3861305	K562	blood:	n/a	n/a
41	POLR2A	chr11:3860378-3863540	Raji	blood:	n/a	n/a
42	HCFC1	chr11:3860455-3860653	K562	blood:	n/a	n/a
43	NFIC	chr11:3860239-3861093	GM12878	blood:	n/a	n/a
44	EBF1	chr11:3860331-3860907	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:3860026-3862201	GM12878	blood:	n/a	n/a
46	CTCF	chr11:3860360-3860510	AG04450	lung:	n/a	chr11:3860398-3860407 chr11:3860395-3860413 chr11:3860397-3860418
47	RELA	chr11:3860179-3861501	GM18951	blood:	n/a	n/a
48	TBP	chr11:3860379-3860871	K562	blood:	n/a	n/a
49	CHD1	chr11:3859792-3861044	GM12878	blood:	n/a	n/a
50	PML	chr11:3860107-3861331	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3857735..3860667-chr11:4115366..4118226,4	K562	blood:
2	chr11:3857497..3860664-chr11:3860718..3863734,5	MCF-7	breast:
3	chr11:3844970..3847923-chr11:3859030..3861537,2	MCF-7	breast:
4	chr11:3858623..3864245-chr11:3874959..3879217,11	K562	blood:
5	chr11:3815959..3820545-chr11:3854514..3864703,12	K562	blood:
6	chr11:3817048..3820526-chr11:3859691..3864703,8	K562	blood:
7	chr11:3860029..3861574-chr11:3887601..3890496,2	K562	blood:
8	chr11:3860189..3865275-chr11:3872883..3879283,10	K562	blood:

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

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1049388	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11029983	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11030043	1.00[ASN][1000 genomes]
rs11030044	1.00[ASN][1000 genomes]
rs11030055	1.00[ASN][1000 genomes]
rs11030173	1.00[ASN][1000 genomes]
rs11600857	1.00[ASN][1000 genomes]
rs11606318	1.00[ASN][1000 genomes]
rs11606483	1.00[ASN][1000 genomes]
rs17173882	1.00[ASN][1000 genomes]
rs17191448	1.00[ASN][1000 genomes]
rs17276405	1.00[ASN][1000 genomes]
rs17276453	1.00[ASN][1000 genomes]
rs4910577	1.00[ASN][1000 genomes]
rs4910846	1.00[ASN][1000 genomes]
rs4910852	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910857	1.00[ASN][1000 genomes]
rs61896929	1.00[ASN][1000 genomes]
rs61896930	1.00[ASN][1000 genomes]
rs61896931	1.00[ASN][1000 genomes]
rs61896953	1.00[ASN][1000 genomes]
rs61896954	1.00[ASN][1000 genomes]
rs61896956	1.00[ASN][1000 genomes]
rs61896957	1.00[ASN][1000 genomes]
rs61896958	1.00[ASN][1000 genomes]
rs61896959	1.00[ASN][1000 genomes]
rs61899361	1.00[ASN][1000 genomes]
rs61899362	1.00[ASN][1000 genomes]
rs61899363	1.00[ASN][1000 genomes]
rs61899392	1.00[ASN][1000 genomes]
rs61899393	1.00[ASN][1000 genomes]
rs6578414	1.00[ASN][1000 genomes]
rs7101788	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844340	1.00[ASN][1000 genomes]
rs72844341	1.00[ASN][1000 genomes]
rs73430467	1.00[ASN][1000 genomes]
rs74050940	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
9	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
10	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
11	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
12	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
13	nsv896894	chr11:3859856-3888234	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 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	chr11:3852200-3860800	Enhancers	Small Intestine	intestine
5	chr11:3853600-3860800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:3854600-3860800	Enhancers	Placenta	Placenta
7	chr11:3855000-3860600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr11:3855200-3860600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr11:3855200-3860800	Enhancers	Brain Angular Gyrus	brain
10	chr11:3855200-3862000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:3855400-3860600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr11:3855400-3861000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr11:3855600-3860600	Genic enhancers	Fetal Muscle Leg	muscle
14	chr11:3856000-3860800	Enhancers	HUVEC	blood vessel
15	chr11:3856200-3860800	Genic enhancers	Fetal Stomach	stomach
16	chr11:3856200-3861400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:3856200-3861400	Weak transcription	Aorta	Aorta
18	chr11:3856800-3860800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:3856800-3861000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:3857000-3860800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:3857200-3860600	Weak transcription	HSMM	muscle
22	chr11:3857200-3860800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr11:3857200-3860800	Weak transcription	Psoas Muscle	Psoas
24	chr11:3857200-3861000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:3857400-3861400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr11:3857600-3860600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:3857600-3860800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:3857600-3861600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:3857800-3861600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr11:3857800-3861800	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr11:3858200-3860600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:3858200-3860600	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr11:3858200-3860600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr11:3858200-3860600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr11:3858200-3860600	Enhancers	Stomach Mucosa	stomach
36	chr11:3858200-3860600	Enhancers	NHDF-Ad	bronchial
37	chr11:3858200-3860800	Enhancers	Colon Smooth Muscle	Colon
38	chr11:3858200-3861200	Transcr. at gene 5' and 3'	K562	blood
39	chr11:3858200-3861800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:3858200-3861800	Enhancers	Fetal Heart	heart
41	chr11:3858200-3862000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:3858400-3860600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr11:3858400-3860800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr11:3858400-3861000	Enhancers	Fetal Lung	lung
45	chr11:3858600-3860600	Enhancers	HMEC	breast
46	chr11:3858600-3860800	Active TSS	Rectal Smooth Muscle	rectum
47	chr11:3858600-3861000	Enhancers	Gastric	stomach
48	chr11:3858600-3861000	Enhancers	HepG2	liver
49	chr11:3858600-3861800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr11:3858800-3860800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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