Variant report

Variant	rs7111339
Chromosome Location	chr11:57090972-57090973
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	MXI1	chr11:57088908-57093652	IMR90	lung:	n/a	chr11:57091416-57091431 chr11:57090118-57090133 chr11:57090120-57090135
2	MAZ	chr11:57088363-57091353	IMR90	lung:	n/a	chr11:57090749-57090760 chr11:57090120-57090129 chr11:57089544-57089554
3	POLR2A	chr11:57090096-57093913	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:57090873-57091967	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr11:57089269-57091198	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr11:57089356-57091231	SK-N-MC	brain:	n/a	n/a
7	CTCF	chr11:57090940-57091090	HVMF	connective:	n/a	n/a
8	MXI1	chr11:57089010-57093760	SK-N-SH	brain:	n/a	chr11:57091416-57091431 chr11:57090118-57090133 chr11:57090120-57090135
9	POLR2A	chr11:57090958-57091013	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:57088922-57094541	PFSK-1	brain:	n/a	n/a
11	CTCF	chr11:57090860-57091010	HA-sp	spinal cord:	n/a	n/a
12	POLR2A	chr11:57090931-57090992	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr11:57089539-57093525	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57090718..57092392-chr11:57160324..57163137,2	K562	blood:

Variant related genes	Relation type
TNKS1BP1	TF binding region
ENSG00000254662	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10792086	0.92[ASN][1000 genomes]
rs10792088	0.92[ASN][1000 genomes]
rs10792089	0.92[ASN][1000 genomes]
rs10792091	1.00[ASN][1000 genomes]
rs10896598	1.00[ASN][1000 genomes]
rs10896603	0.92[ASN][1000 genomes]
rs10896604	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896605	0.92[ASN][1000 genomes]
rs10896608	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228991	0.81[EUR][1000 genomes]
rs11228995	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229003	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229011	1.00[ASN][1000 genomes]
rs11602265	0.92[ASN][1000 genomes]
rs11602266	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603691	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607950	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361969	0.82[ASN][1000 genomes]
rs12365472	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576878	0.92[ASN][1000 genomes]
rs1815769	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2230649	0.92[ASN][1000 genomes]
rs34135716	0.92[ASN][1000 genomes]
rs4938863	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs4938864	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs61888886	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61888887	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61888888	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106462	0.92[ASN][1000 genomes]
rs7129491	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951793	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription 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	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv3408359	chr11:57090901-57093749	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57079200-57091400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:57079400-57091400	Weak transcription	Primary B cells from cord blood	blood
3	chr11:57083800-57091400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:57085000-57091000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:57085400-57091200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:57086000-57091000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr11:57086200-57091200	Weak transcription	Primary T cells from cord blood	blood
8	chr11:57088200-57091600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:57088600-57091000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:57088800-57091400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr11:57088800-57091800	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr11:57088800-57091800	Active TSS	Right Atrium	heart
13	chr11:57088800-57091800	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr11:57089000-57091200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:57089000-57091200	Flanking Active TSS	HSMM	muscle
16	chr11:57089000-57091400	Flanking Active TSS	NH-A	brain
17	chr11:57089000-57091600	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr11:57089200-57091200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:57089200-57091200	Enhancers	Dnd41	blood
20	chr11:57089200-57091400	Enhancers	Spleen	Spleen
21	chr11:57089200-57091600	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr11:57089200-57091600	Flanking Active TSS	Hela-S3	cervix
23	chr11:57089200-57091600	Flanking Active TSS	K562	blood
24	chr11:57089200-57091600	Flanking Active TSS	Osteobl	bone
25	chr11:57089200-57091800	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr11:57089200-57093600	Active TSS	Aorta	Aorta
27	chr11:57089400-57091000	Enhancers	Brain Cingulate Gyrus	brain
28	chr11:57089400-57091200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:57089400-57091400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr11:57089400-57091400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr11:57089400-57091600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:57089400-57091800	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr11:57089400-57091800	Flanking Active TSS	Placenta	Placenta
34	chr11:57089600-57091000	Flanking Active TSS	Fetal Kidney	kidney
35	chr11:57089600-57091200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:57089600-57091200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr11:57089600-57091200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr11:57089600-57091400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:57089600-57091400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr11:57089600-57093400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr11:57089800-57091400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr11:57090000-57091000	Enhancers	Brain Germinal Matrix	brain
43	chr11:57090000-57091000	Weak transcription	Fetal Heart	heart
44	chr11:57090000-57091200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:57090000-57091200	Flanking Active TSS	NHEK	skin
46	chr11:57090000-57091400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr11:57090000-57091400	Flanking Active TSS	HepG2	liver
48	chr11:57090000-57092800	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr11:57090000-57093000	Active TSS	Right Ventricle	heart
50	chr11:57090200-57091000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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