Variant report

Variant	rs10838528
Chromosome Location	chr11:45917954-45917955
allele	A/C
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	CHD2	chr11:45917903-45918289	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr11:45917936-45918482	H1-hESC	embryonic stem cell:	n/a	chr11:45918078-45918087
3	SIN3A	chr11:45917812-45918625	H1-hESC	embryonic stem cell:	n/a	chr11:45918514-45918527 chr11:45918183-45918194
4	REST	chr11:45917918-45918646	H1-hESC	embryonic stem cell:	n/a	chr11:45918404-45918414 chr11:45918517-45918530
5	REST	chr11:45917953-45918592	H1-hESC	embryonic stem cell:	n/a	chr11:45918404-45918414 chr11:45918517-45918530
6	TBP	chr11:45917725-45918479	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF143	chr11:45917929-45918444	H1-hESC	embryonic stem cell:	n/a	n/a
8	GABPA	chr11:45917929-45918307	H1-hESC	embryonic stem cell:	n/a	n/a
9	GTF2F1	chr11:45917941-45918058	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3AK20	chr11:45917857-45918567	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr11:45917853-45918147	H1-hESC	embryonic stem cell:	n/a	n/a
12	SRF	chr11:45917884-45918199	H1-hESC	embryonic stem cell:	n/a	chr11:45918054-45918072
13	POLR2A	chr11:45917852-45918386	H1-neurons	neurons:	n/a	n/a
14	REST	chr11:45917897-45918658	PFSK-1	brain:	n/a	chr11:45918404-45918414 chr11:45918517-45918530

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45889972..45892712-chr11:45915582..45918547,2	K562	blood:

Variant related genes	Relation type
MAPK8IP1	TF binding region
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10128629	1.00[ASN][1000 genomes]
rs1038733	1.00[ASN][1000 genomes]
rs10734539	1.00[ASN][1000 genomes]
rs10734540	1.00[ASN][1000 genomes]
rs10742773	1.00[ASN][1000 genomes]
rs10838563	1.00[ASN][1000 genomes]
rs11820849	1.00[ASN][1000 genomes]
rs11820877	1.00[ASN][1000 genomes]
rs11827687	1.00[ASN][1000 genomes]
rs11827732	1.00[ASN][1000 genomes]
rs11828167	1.00[ASN][1000 genomes]
rs1401420	1.00[ASN][1000 genomes]
rs1401421	1.00[ASN][1000 genomes]
rs1490082	1.00[ASN][1000 genomes]
rs1490087	1.00[ASN][1000 genomes]
rs16938429	1.00[ASN][1000 genomes]
rs16938437	1.00[ASN][1000 genomes]
rs1907003	1.00[ASN][1000 genomes]
rs1994599	1.00[ASN][1000 genomes]
rs2130469	1.00[ASN][1000 genomes]
rs2130470	1.00[ASN][1000 genomes]
rs2130471	1.00[ASN][1000 genomes]
rs2130473	1.00[ASN][1000 genomes]
rs2171895	1.00[ASN][1000 genomes]
rs2860433	1.00[ASN][1000 genomes]
rs2863714	1.00[ASN][1000 genomes]
rs2932510	1.00[ASN][1000 genomes]
rs2932512	1.00[ASN][1000 genomes]
rs2932515	1.00[ASN][1000 genomes]
rs2932516	1.00[ASN][1000 genomes]
rs2945996	1.00[ASN][1000 genomes]
rs2945998	1.00[ASN][1000 genomes]
rs2946000	1.00[ASN][1000 genomes]
rs2946002	1.00[ASN][1000 genomes]
rs2946005	1.00[ASN][1000 genomes]
rs2946008	1.00[ASN][1000 genomes]
rs2946009	1.00[ASN][1000 genomes]
rs2959082	1.00[ASN][1000 genomes]
rs2959083	1.00[ASN][1000 genomes]
rs2959089	1.00[ASN][1000 genomes]
rs2959095	1.00[ASN][1000 genomes]
rs2959096	1.00[ASN][1000 genomes]
rs2959103	1.00[ASN][1000 genomes]
rs2959104	1.00[ASN][1000 genomes]
rs4237661	1.00[ASN][1000 genomes]
rs4281461	1.00[ASN][1000 genomes]
rs4756042	1.00[ASN][1000 genomes]
rs4756048	1.00[ASN][1000 genomes]
rs4756056	1.00[ASN][1000 genomes]
rs4756057	1.00[ASN][1000 genomes]
rs4756058	1.00[ASN][1000 genomes]
rs4756059	1.00[ASN][1000 genomes]
rs55945697	1.00[ASN][1000 genomes]
rs61882507	1.00[ASN][1000 genomes]
rs61882508	1.00[ASN][1000 genomes]
rs61882509	1.00[ASN][1000 genomes]
rs61882510	1.00[ASN][1000 genomes]
rs61882511	1.00[ASN][1000 genomes]
rs61882513	1.00[ASN][1000 genomes]
rs61882514	1.00[ASN][1000 genomes]
rs61882534	1.00[ASN][1000 genomes]
rs61882535	1.00[ASN][1000 genomes]
rs61882536	1.00[ASN][1000 genomes]
rs61882538	1.00[ASN][1000 genomes]
rs61882539	1.00[ASN][1000 genomes]
rs61882540	1.00[ASN][1000 genomes]
rs61882541	1.00[ASN][1000 genomes]
rs61882542	1.00[ASN][1000 genomes]
rs61882543	1.00[ASN][1000 genomes]
rs61882544	1.00[ASN][1000 genomes]
rs61882545	1.00[ASN][1000 genomes]
rs61882546	1.00[ASN][1000 genomes]
rs61882547	1.00[ASN][1000 genomes]
rs6485664	1.00[ASN][1000 genomes]
rs7103299	1.00[ASN][1000 genomes]
rs7106689	1.00[ASN][1000 genomes]
rs7111900	1.00[ASN][1000 genomes]
rs7120227	1.00[ASN][1000 genomes]
rs7125387	1.00[ASN][1000 genomes]
rs7129942	1.00[ASN][1000 genomes]
rs7130282	1.00[ASN][1000 genomes]
rs73452216	1.00[ASN][1000 genomes]
rs7397035	1.00[ASN][1000 genomes]
rs7478883	1.00[ASN][1000 genomes]
rs7924996	1.00[ASN][1000 genomes]
rs7932895	1.00[ASN][1000 genomes]
rs7934407	1.00[ASN][1000 genomes]
rs7934572	1.00[ASN][1000 genomes]
rs7934681	1.00[ASN][1000 genomes]
rs7942246	1.00[ASN][1000 genomes]
rs7946524	1.00[ASN][1000 genomes]
rs939106	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1807609	chr11:45915859-45940195	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45907600-45920800	Weak transcription	Right Atrium	heart
2	chr11:45914000-45920400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:45915200-45918000	Weak transcription	Liver	Liver
4	chr11:45916200-45918000	Enhancers	Brain Cingulate Gyrus	brain
5	chr11:45916200-45918000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr11:45916400-45918600	Enhancers	Fetal Brain Male	brain
7	chr11:45916600-45920200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:45917200-45919400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr11:45917400-45918000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:45917400-45918200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:45917400-45918200	Enhancers	Brain Anterior Caudate	brain
12	chr11:45917400-45918200	Flanking Active TSS	Fetal Brain Female	brain
13	chr11:45917400-45918600	Bivalent Enhancer	Placenta	Placenta
14	chr11:45917400-45918800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:45917400-45918800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:45917400-45918800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:45917400-45918800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr11:45917400-45919200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
19	chr11:45917400-45919400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:45917600-45918000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:45917600-45918200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:45917600-45918200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr11:45917600-45918200	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr11:45917600-45918400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr11:45917600-45918600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:45917600-45918600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:45917600-45918600	Enhancers	HSMMtube	muscle
28	chr11:45917600-45918800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:45917600-45918800	Enhancers	Brain Substantia Nigra	brain
30	chr11:45917600-45918800	Bivalent Enhancer	Fetal Stomach	stomach
31	chr11:45917600-45919000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:45917600-45920800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr11:45917800-45918000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:45917800-45918000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr11:45917800-45918000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr11:45917800-45918000	Bivalent Enhancer	Fetal Thymus	thymus
37	chr11:45917800-45918000	Enhancers	Lung	lung
38	chr11:45917800-45918000	Enhancers	Hela-S3	cervix
39	chr11:45917800-45918200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr11:45917800-45918200	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr11:45917800-45918200	Enhancers	Psoas Muscle	Psoas
42	chr11:45917800-45918400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr11:45917800-45918400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:45917800-45918600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:45917800-45918600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:45917800-45918600	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr11:45917800-45918800	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr11:45917800-45921000	Weak transcription	H9 Cell Line	embryonic stem cell

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