Variant report

Variant	rs11812283
Chromosome Location	chr10:27532690-27532691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:27529059-27532978	MCF-7	breast:	n/a	n/a
2	MTA3	chr10:27529032-27532977	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:27529061-27532723	SK-N-MC	brain:	n/a	n/a
4	NFATC1	chr10:27530640-27532693	GM12878	blood:	n/a	n/a
5	MXI1	chr10:27528804-27533681	SK-N-SH	brain:	n/a	n/a
6	ESR1	chr10:27532623-27533061	T-47D	breast:	n/a	n/a
7	POLR2A	chr10:27529181-27532999	GM12878	blood:	n/a	n/a
8	YY1	chr10:27531775-27532713	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr10:27529100-27533158	GM12891	blood:	n/a	n/a
10	RELA	chr10:27531710-27532760	GM10847	blood:	n/a	n/a
11	MAX	chr10:27531665-27532705	HepG2	liver:	n/a	n/a
12	RELA	chr10:27531702-27533024	GM15510	blood:	n/a	n/a
13	CREB1	chr10:27531636-27532716	GM12878	blood:	n/a	n/a
14	RELA	chr10:27531738-27532812	GM18505	blood:	n/a	n/a
15	GABPA	chr10:27529143-27532848	MCF-7	breast:	n/a	n/a
16	MAX	chr10:27531699-27532782	A549	lung:	n/a	n/a
17	MAX	chr10:27531617-27532719	HCT-116	colon:	n/a	n/a
18	POLR2A	chr10:27529122-27532964	GM18505	blood:	n/a	n/a
19	ZNF263	chr10:27530786-27532931	HEK293-T-REx	kidney:	n/a	chr10:27531183-27531192 chr10:27531949-27531970 chr10:27531994-27532015
20	BHLHE40	chr10:27531757-27532806	K562	blood:	n/a	n/a
21	POLR2A	chr10:27532671-27532898	HepG2	liver:	n/a	n/a
22	MAX	chr10:27531706-27532693	A549	lung:	n/a	n/a
23	HCFC1	chr10:27530490-27532731	Hela-S3	cervix:	n/a	n/a
24	ESR1	chr10:27532637-27533066	T-47D	breast:	n/a	n/a
25	E2F6	chr10:27531792-27532715	A549	lung:	n/a	n/a
26	POLR2A	chr10:27531728-27532849	K562	blood:	n/a	n/a
27	ESR1	chr10:27532620-27533028	T-47D	breast:	n/a	n/a
28	POLR2A	chr10:27529066-27532697	GM12878	blood:	n/a	n/a
29	NFIC	chr10:27530567-27532691	GM12878	blood:	n/a	n/a
30	POLR2A	chr10:27530573-27532788	GM12892	blood:	n/a	n/a
31	POLR2A	chr10:27529128-27533001	GM12892	blood:	n/a	n/a
32	POLR2A	chr10:27529120-27533024	GM12892	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:27529521..27534854-chr10:27538591..27544292,11	K562	blood:
2	chr10:6242075..6244740-chr10:27530620..27532882,2	MCF-7	breast:
3	chr10:27442535..27445982-chr10:27528407..27534290,13	K562	blood:
4	chr10:27422273..27425391-chr10:27529619..27533685,5	MCF-7	breast:
5	chr10:27441114..27446089-chr10:27527560..27532728,23	MCF-7	breast:
6	chr10:27442176..27446829-chr10:27524472..27534671,19	K562	blood:

No data

Variant related genes	Relation type
ACBD5	TF binding region
ENSG00000136758	Chromatin interaction
ENSG00000120539	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000230445	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10764672	1.00[JPT][hapmap]
rs10829195	1.00[JPT][hapmap]
rs10829217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1085782	1.00[JPT][hapmap]
rs11015619	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11015620	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11015624	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11015628	0.94[ASN][1000 genomes]
rs11812740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818418	0.88[ASN][1000 genomes]
rs12260818	0.88[ASN][1000 genomes]
rs12262209	0.88[ASN][1000 genomes]
rs12264871	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12411584	1.00[JPT][hapmap]
rs12411672	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12413716	1.00[JPT][hapmap]
rs12415447	0.93[ASN][1000 genomes]
rs12415615	1.00[JPT][hapmap]
rs12774718	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12775195	0.83[ASN][1000 genomes]
rs12775838	0.88[ASN][1000 genomes]
rs16916444	1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[ASN][1000 genomes]
rs16927573	1.00[JPT][hapmap]
rs1753415	1.00[JPT][hapmap]
rs17748862	0.88[ASN][1000 genomes]
rs1775350	1.00[JPT][hapmap]
rs1930960	0.88[ASN][1000 genomes]
rs2027538	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368220	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34983424	0.88[ASN][1000 genomes]
rs35053986	0.83[ASN][1000 genomes]
rs35931272	0.88[ASN][1000 genomes]
rs3818969	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4747584	1.00[JPT][hapmap]
rs4747592	0.87[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4747594	0.87[CEU][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[ASN][1000 genomes]
rs4749230	1.00[JPT][hapmap]
rs4749233	1.00[JPT][hapmap]
rs55770293	0.88[ASN][1000 genomes]
rs56207199	0.88[ASN][1000 genomes]
rs56313380	0.88[ASN][1000 genomes]
rs56406502	0.88[ASN][1000 genomes]
rs61149145	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6415983	1.00[JPT][hapmap]
rs6482593	1.00[JPT][hapmap]
rs6482595	1.00[JPT][hapmap]
rs6482598	1.00[JPT][hapmap]
rs67395401	0.88[ASN][1000 genomes]
rs7087033	1.00[JPT][hapmap]
rs73598052	0.94[ASN][1000 genomes]
rs788210	1.00[JPT][hapmap]
rs788220	1.00[JPT][hapmap]
rs788237	1.00[JPT][hapmap]
rs7907988	1.00[JPT][hapmap]
rs7910168	1.00[JPT][hapmap]
rs7918232	1.00[JPT][hapmap]
rs7918793	0.87[CEU][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs7919198	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7919807	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7920681	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11812283	MASTL	cis	cerebellum	SCAN
rs11812283	MASTL	cis	parietal	SCAN
rs11812283	LYZL1	cis	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27528200-27532800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr10:27528400-27533000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr10:27528400-27533000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr10:27528600-27532800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:27531000-27532800	Active TSS	Stomach Smooth Muscle	stomach
6	chr10:27531400-27532800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:27531400-27532800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:27531600-27532800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:27531800-27532800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr10:27531800-27532800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr10:27531800-27532800	Flanking Active TSS	NHLF	lung
12	chr10:27531800-27533000	Flanking Active TSS	HMEC	breast
13	chr10:27532000-27532800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:27532000-27532800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr10:27532000-27532800	Flanking Active TSS	Fetal Brain Male	brain
16	chr10:27532000-27532800	Flanking Active TSS	Fetal Lung	lung
17	chr10:27532000-27532800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr10:27532000-27532800	Flanking Active TSS	NHEK	skin
19	chr10:27532000-27533000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:27532000-27533000	Flanking Active TSS	NH-A	brain
21	chr10:27532000-27533200	Flanking Active TSS	Dnd41	blood
22	chr10:27532200-27532800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:27532200-27532800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:27532200-27532800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr10:27532200-27532800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr10:27532200-27532800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr10:27532200-27532800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr10:27532200-27532800	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr10:27532200-27532800	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr10:27532200-27532800	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr10:27532200-27532800	Flanking Active TSS	GM12878-XiMat	blood
32	chr10:27532200-27532800	Flanking Active TSS	Hela-S3	cervix
33	chr10:27532200-27532800	Flanking Active TSS	HSMMtube	muscle
34	chr10:27532200-27533000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr10:27532200-27533000	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr10:27532200-27533000	Flanking Active TSS	A549	lung
37	chr10:27532200-27533000	Flanking Active TSS	HepG2	liver
38	chr10:27532200-27533000	Flanking Active TSS	NHDF-Ad	bronchial
39	chr10:27532200-27533200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr10:27532400-27532800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr10:27532400-27532800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
42	chr10:27532400-27532800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr10:27532400-27532800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr10:27532400-27532800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr10:27532400-27532800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr10:27532400-27532800	Flanking Active TSS	Fetal Brain Female	brain
47	chr10:27532400-27532800	Flanking Active TSS	Fetal Kidney	kidney
48	chr10:27532400-27532800	Active TSS	Fetal Muscle Trunk	muscle
49	chr10:27532400-27532800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr10:27532400-27532800	Enhancers	Sigmoid Colon	Sigmoid Colon

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