Variant report

Variant	rs12251016
Chromosome Location	chr10:21821918-21821919
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	chr10:21821815-21823484	SK-N-SH	brain:	n/a	n/a
2	UBTF	chr10:21821908-21823225	K562	blood:	n/a	n/a
3	POLR2A	chr10:21821917-21823221	PBDE	blood:	n/a	n/a
4	MAFK	chr10:21821845-21822089	IMR90	lung:	n/a	chr10:21821906-21821917 chr10:21821901-21821917 chr10:21821904-21821918 chr10:21821924-21821940 chr10:21821906-21821917
5	MYC	chr10:21821737-21823343	K562	blood:	n/a	n/a
6	POLR2A	chr10:21821757-21824187	GM12891	blood:	n/a	n/a
7	GATA3	chr10:21821802-21823450	A549	lung:	n/a	n/a
8	ARID3A	chr10:21821685-21822801	K562	blood:	n/a	chr10:21821959-21821975
9	CUX1	chr10:21821848-21822868	K562	blood:	n/a	n/a
10	POLR2A	chr10:21821812-21823463	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr10:21821756-21823038	HepG2	liver:	n/a	n/a
12	HEY1	chr10:21821725-21822999	HepG2	liver:	n/a	n/a
13	POLR2A	chr10:21821872-21822994	U87	brain:	n/a	n/a
14	POLR2A	chr10:21821119-21823955	MCF10A-Er-Src	breast:	n/a	n/a
15	MYC	chr10:21820985-21823114	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr10:21821760-21823451	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAFF	chr10:21821795-21822691	K562	blood:	n/a	chr10:21821900-21821918 chr10:21821922-21821940
18	NFIC	chr10:21821730-21823047	HepG2	liver:	n/a	n/a
19	POLR2A	chr10:21821866-21822991	U87	brain:	n/a	n/a
20	POLR2A	chr10:21821882-21824919	K562	blood:	n/a	n/a
21	POLR2A	chr10:21821799-21824898	K562	blood:	n/a	n/a
22	POLR2A	chr10:21821861-21824438	K562	blood:	n/a	n/a
23	POLR2A	chr10:21821895-21823988	HepG2	liver:	n/a	n/a
24	MAFF	chr10:21821778-21822731	HepG2	liver:	n/a	chr10:21821900-21821918 chr10:21821922-21821940
25	MAFK	chr10:21821770-21822705	HepG2	liver:	n/a	chr10:21821906-21821917 chr10:21821901-21821917 chr10:21821904-21821918 chr10:21821924-21821940 chr10:21821906-21821917
26	REST	chr10:21821904-21823049	A549	lung:	n/a	n/a
27	POLR2A	chr10:21821909-21824451	GM18505	blood:	n/a	n/a
28	POLR2A	chr10:21821830-21824412	MCF-7	breast:	n/a	n/a
29	MAFK	chr10:21821757-21822923	HepG2	liver:	n/a	chr10:21821906-21821917 chr10:21821901-21821917 chr10:21821904-21821918 chr10:21821924-21821940 chr10:21821906-21821917
30	MYBL2	chr10:21821843-21823417	HepG2	liver:	n/a	n/a
31	POLR2A	chr10:21821677-21823997	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr10:21821798-21824696	HepG2	liver:	n/a	n/a
33	ARID3A	chr10:21821834-21823211	HepG2	liver:	n/a	chr10:21821959-21821975
34	POLR2A	chr10:21821914-21823510	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr10:21821839-21824419	K562	blood:	n/a	n/a
36	MXI1	chr10:21821042-21825043	SK-N-SH	brain:	n/a	n/a
37	GATA1	chr10:21821157-21822268	PBDE	blood:	n/a	chr10:21821299-21821307
38	POLR2A	chr10:21821742-21824704	GM12878	blood:	n/a	n/a
39	GATA3	chr10:21821710-21822143	SH-SY5Y	brain:	n/a	n/a
40	MAFK	chr10:21821739-21822698	K562	blood:	n/a	chr10:21821906-21821917 chr10:21821901-21821917 chr10:21821904-21821918 chr10:21821924-21821940 chr10:21821906-21821917

No.	Distal block	Cell Line	Cell type
1	chr10:21821191..21822728-chr10:22232911..22234926,2	MCF-7	breast:
2	chr10:21763967..21765915-chr10:21820410..21823036,2	MCF-7	breast:
3	chr10:21784105..21788419-chr10:21820020..21825934,15	K562	blood:
4	chr10:21784774..21789957-chr10:21820858..21826220,9	MCF-7	breast:
5	chr10:21779286..21780842-chr10:21820192..21822090,2	K562	blood:
6	chr10:21819973..21822184-chr10:22292181..22294416,2	K562	blood:
7	chr10:21784405..21786921-chr10:21820578..21824484,6	MCF-7	breast:

Variant related genes	Relation type
MLLT10	TF binding region
ENSG00000204682	Chromatin interaction
ENSG00000136770	Chromatin interaction
ENSG00000222071	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10828247	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10828248	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10828249	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11012732	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12253527	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12779865	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1416901	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1802669	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7084454	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7098100	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825284	chr10:21739527-21847437	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv825285	chr10:21742026-21874334	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv825286	chr10:21757784-21838890	Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	nsv825288	chr10:21759085-21831354	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
5	nsv825289	chr10:21762506-21845875	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
6	nsv527055	chr10:21764019-21822856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	nsv825290	chr10:21777857-21830878	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
8	nsv894936	chr10:21781589-21827796	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv550200	chr10:21782842-21824727	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
10	nsv894937	chr10:21782842-21827796	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
11	nsv517469	chr10:21783634-21822856	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
12	nsv894938	chr10:21784899-21827796	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
13	nsv894939	chr10:21789406-21830104	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv825291	chr10:21792100-21830946	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv894940	chr10:21796081-21823525	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv550201	chr10:21796081-21824727	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv894941	chr10:21796081-21827796	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv894942	chr10:21798241-21823525	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	nsv894943	chr10:21798241-21824619	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
20	nsv894944	chr10:21798241-21827796	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	nsv894945	chr10:21798241-21830104	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
22	nsv894946	chr10:21798241-21831215	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
23	nsv1052477	chr10:21810270-21889726	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12251016	MLLT10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21816600-21822400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:21816600-21822400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:21817000-21822200	Weak transcription	Placenta	Placenta
4	chr10:21818000-21822000	Weak transcription	Osteobl	bone
5	chr10:21818000-21822200	Weak transcription	Small Intestine	intestine
6	chr10:21818200-21822000	Weak transcription	Fetal Muscle Leg	muscle
7	chr10:21818200-21822200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:21821000-21822000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr10:21821000-21822000	Enhancers	HSMM	muscle
10	chr10:21821200-21822000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr10:21821200-21822000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:21821200-21822000	Enhancers	Primary T cells from cord blood	blood
13	chr10:21821200-21822000	Enhancers	Fetal Heart	heart
14	chr10:21821200-21822000	Enhancers	Fetal Intestine Large	intestine
15	chr10:21821200-21822000	Enhancers	Fetal Kidney	kidney
16	chr10:21821200-21822200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr10:21821200-21822200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:21821200-21822200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:21821200-21822600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:21821200-21822800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:21821200-21824600	Active TSS	Psoas Muscle	Psoas
22	chr10:21821400-21824400	Active TSS	A549	lung
23	chr10:21821600-21822000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:21821600-21822000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr10:21821600-21822000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr10:21821600-21822000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr10:21821600-21822000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr10:21821600-21822000	Enhancers	HMEC	breast
29	chr10:21821600-21822200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:21821600-21822200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr10:21821600-21822200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr10:21821600-21822200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr10:21821600-21822200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr10:21821600-21822200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr10:21821600-21822200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:21821600-21822400	Flanking Active TSS	Liver	Liver
37	chr10:21821600-21822600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr10:21821600-21822600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr10:21821600-21822600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr10:21821600-21822600	Flanking Active TSS	NHEK	skin
41	chr10:21821600-21822800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr10:21821600-21822800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr10:21821600-21824400	Active TSS	Stomach Smooth Muscle	stomach
44	chr10:21821600-21824400	Active TSS	K562	blood
45	chr10:21821800-21822000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:21821800-21822000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr10:21821800-21822000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr10:21821800-21822000	Enhancers	Primary B cells from cord blood	blood
49	chr10:21821800-21822000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr10:21821800-21822000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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