Variant report

Variant	rs11187723
Chromosome Location	chr10:95653401-95653402
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr10:95653333-95654085	ECC-1	luminal epithelium:	n/a	chr10:95654017-95654031 chr10:95653725-95653736 chr10:95654014-95654028 chr10:95653533-95653552
2	E2F6	chr10:95653365-95654176	A549	lung:	n/a	chr10:95654064-95654073 chr10:95653690-95653699
3	POLR2A	chr10:95653314-95654117	PBDE	blood:	n/a	n/a
4	POLR2A	chr10:95653363-95654005	HL-60	blood:	n/a	n/a
5	POLR2A	chr10:95653372-95654343	GM12878	blood:	n/a	n/a
6	GTF2F1	chr10:95653387-95653864	H1-hESC	embryonic stem cell:	n/a	n/a
7	SMARCC1	chr10:95653317-95654368	Hela-S3	cervix:	n/a	n/a
8	YY1	chr10:95653393-95654044	ECC-1	luminal epithelium:	n/a	chr10:95654017-95654031 chr10:95653725-95653736 chr10:95654014-95654028 chr10:95653533-95653552
9	POLR2A	chr10:95653370-95654031	HCT-116	colon:	n/a	n/a
10	CTCF	chr10:95653380-95653530	AG04449	skin:	n/a	n/a
11	MAX	chr10:95653333-95654138	MCF-7	breast:	n/a	chr10:95653609-95653619
12	POLR2A	chr10:95653400-95654343	MCF-7	breast:	n/a	n/a
13	POLR2A	chr10:95653380-95654196	GM18951	blood:	n/a	n/a
14	YY1	chr10:95653394-95653918	A549	lung:	n/a	chr10:95653725-95653736 chr10:95653533-95653552
15	RUNX3	chr10:95653292-95654044	GM12878	blood:	n/a	n/a
16	GTF2F1	chr10:95653386-95653921	Hela-S3	cervix:	n/a	n/a
17	MAX	chr10:95653357-95654026	SK-N-SH	brain:	n/a	chr10:95653609-95653619
18	TCF12	chr10:95653300-95654131	A549	lung:	n/a	chr10:95653579-95653586
19	POLR2A	chr10:95653305-95654129	GM12892	blood:	n/a	n/a
20	MAX	chr10:95653336-95653983	NB4	blood:	n/a	chr10:95653609-95653619
21	POLR2A	chr10:95653328-95654265	Hela-S3	cervix:	n/a	n/a
22	EP300	chr10:95653355-95653765	K562	blood:	n/a	n/a
23	TAF1	chr10:95653337-95654417	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr10:95653315-95654000	ECC-1	luminal epithelium:	n/a	n/a
25	ELK4	chr10:95653225-95653837	Hela-S3	cervix:	n/a	n/a
26	ZBTB7A	chr10:95653177-95654530	ECC-1	luminal epithelium:	n/a	n/a
27	MXI1	chr10:95652616-95655127	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr10:95653393-95654367	GM18526	blood:	n/a	n/a
29	MYC	chr10:95653356-95654146	K562	blood:	n/a	chr10:95653609-95653619
30	ZNF263	chr10:95653360-95655669	HEK293-T-REx	kidney:	n/a	chr10:95654965-95654974
31	ZBTB7A	chr10:95653318-95654338	K562	blood:	n/a	n/a
32	POLR2A	chr10:95653388-95654305	GM19193	blood:	n/a	n/a
33	POLR2A	chr10:95653346-95654095	GM12878	blood:	n/a	n/a
34	NR2F2	chr10:95653352-95653960	MCF-7	breast:	n/a	n/a
35	ZBTB7A	chr10:95653262-95653795	K562	blood:	n/a	n/a
36	YY1	chr10:95653380-95653964	GM12878	blood:	n/a	chr10:95653725-95653736 chr10:95653533-95653552
37	HA-E2F1	chr10:95653383-95654105	Hela-S3	cervix:	n/a	chr10:95653745-95653756 chr10:95654064-95654073 chr10:95653690-95653699
38	SMARCB1	chr10:95653373-95654863	Hela-S3	cervix:	n/a	n/a
39	IRF1	chr10:95653208-95653934	K562	blood:	n/a	n/a
40	CTCF	chr10:95653380-95653530	GM12868	blood:	n/a	n/a
41	POLR2A	chr10:95653377-95654202	H1-hESC	embryonic stem cell:	n/a	n/a
42	RCOR1	chr10:95653289-95653949	GM12878	blood:	n/a	n/a
43	POLR2A	chr10:95653246-95654157	SK-N-MC	brain:	n/a	n/a
44	SIN3AK20	chr10:95653231-95654125	PANC-1	pancreas:	n/a	n/a
45	MTA3	chr10:95653190-95654150	GM12878	blood:	n/a	n/a
46	POLR2A	chr10:95653251-95654004	GM12891	blood:	n/a	n/a
47	MAX	chr10:95653325-95654098	SK-N-SH	brain:	n/a	chr10:95653609-95653619
48	POLR2A	chr10:95653313-95654064	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr10:95653343-95654145	A549	lung:	n/a	n/a
50	POLR2A	chr10:95653371-95653986	GM10847	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:95653400-95653450	SKMC	muscle:	n/a
2	chr10:95653400-95653450	HUVEC	blood vessel:	n/a
3	chr10:95653400-95653450	BJ	skin:	n/a
4	chr10:95653378-95653428	U87	brain:	n/a
5	chr10:95653400-95653450	BE2_C	brain:	n/a
6	chr10:95653378-95653428	GM19239	blood:	n/a
7	chr10:95653400-95653450	PANC-1	pancreas:	n/a
8	chr10:95653400-95653450	MCF10A-Er-Src	breast:	n/a
9	chr10:95653378-95653428	NB4	blood:	n/a
10	chr10:95653400-95653450	AG09319	gingival:	n/a
11	chr10:95653400-95653450	Hela-S3	cervix:	n/a
12	chr10:95653400-95653450	U87	brain:	n/a
13	chr10:95653378-95653428	T-47D	breast:	n/a
14	chr10:95653400-95653450	GM19239	blood:	n/a
15	chr10:95653400-95653450	GM06990	blood:	n/a
16	chr10:95653400-95653450	GM12878	blood:	n/a
17	chr10:95653400-95653450	HMEC	breast:	n/a
18	chr10:95653378-95653428	AG04450	lung:	fetal
19	chr10:95653378-95653428	HepG2	liver:	n/a
20	chr10:95653378-95653428	SK-N-SH_RA	brain:	n/a
21	chr10:95653378-95653428	GM12891	blood:	n/a
22	chr10:95653400-95653450	NHBE	bronchial:	n/a
23	chr10:95653400-95653450	Caco-2	colon:	n/a
24	chr10:95653400-95653450	HepG2	liver:	n/a
25	chr10:95653400-95653450	HCT-116	colon:	n/a
26	chr10:95653378-95653428	HEEpiC	esophagus:	n/a
27	chr10:95653400-95653450	SK-N-SH	brain:	n/a
28	chr10:95653378-95653428	HCM	heart:	n/a
29	chr10:95653378-95653428	MCF-7	breast:	n/a
30	chr10:95653378-95653428	HIPEpiC	eye:	n/a
31	chr10:95653400-95653450	SK-N-SH_RA	brain:	n/a
32	chr10:95653378-95653428	K562	blood:	n/a
33	chr10:95653400-95653450	GM12892	blood:	n/a
34	chr10:95653400-95653450	AG04449	skin:	fetal
35	chr10:95653378-95653428	HCPEpiC	choroid plexus:	n/a
36	chr10:95653400-95653450	AG09309	skin:	n/a
37	chr10:95653378-95653428	HRPEpiC	eye:	n/a
38	chr10:95653400-95653450	SAEC	small airway:	n/a
39	chr10:95653378-95653428	IMR90	lung:	fetal
40	chr10:95653378-95653428	HPAEpiC	pulmonary alveolar:	n/a
41	chr10:95653400-95653450	Hepatocyte	liver:	n/a
42	chr10:95653400-95653450	GM12891	blood:	n/a
43	chr10:95653400-95653450	AG10803	skin:	n/a
44	chr10:95653378-95653428	NHDF-neo	bronchial:	n/a
45	chr10:95653378-95653428	AG10803	skin:	n/a
46	chr10:95653400-95653450	HIPEpiC	eye:	n/a
47	chr10:95653400-95653450	PFSK-1	brain:	n/a
48	chr10:95653400-95653450	NB4	blood:	n/a
49	chr10:95653378-95653428	HRCEpiC	kidney:	n/a
50	chr10:95653400-95653450	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:95461845..95463891-chr10:95652096..95654090,2	K562	blood:
2	chr10:95652670..95655434-chr10:96073530..96076292,2	MCF-7	breast:
3	chr10:95652427..95653943-chr9:140113514..140115892,2	MCF-7	breast:
4	chr10:95653310..95653980-chr5:134181009..134181671,2	Hela-S3	cervix:
5	chr1:227505566..227506340-chr10:95653162..95653749,2	HCT-116	colon:
6	chr10:95650731..95653563-chr10:96121440..96124256,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC35G1	TF binding region
SLC35G1	CpG island
ENSG00000181904	Chromatin interaction
ENSG00000148690	Chromatin interaction
ENSG00000212864	Chromatin interaction
ENSG00000143776	Chromatin interaction
ENSG00000173145	Chromatin interaction
ENSG00000273450	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10786145	0.95[ASN][1000 genomes]
rs10882355	0.95[ASN][1000 genomes]
rs10882356	0.95[ASN][1000 genomes]
rs10882362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11187680	0.90[ASN][1000 genomes]
rs11187721	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187722	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12356200	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12413002	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2113955	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34424393	0.95[ASN][1000 genomes]
rs35629779	1.00[ASN][1000 genomes]
rs4919616	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7068140	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7096071	1.00[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11187723	PLCE1	cis	cerebellum	SCAN
rs11187723	MMS19	cis	cerebellum	SCAN
rs11187723	RPL13AP5	cis	cerebellum	SCAN
rs11187723	EXOC6	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95652800-95654200	Active TSS	Osteobl	bone
2	chr10:95652800-95654600	Active TSS	Brain Angular Gyrus	brain
3	chr10:95653000-95653600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:95653000-95654200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:95653000-95654200	Active TSS	Fetal Brain Male	brain
6	chr10:95653000-95654200	Active TSS	GM12878-XiMat	blood
7	chr10:95653000-95654200	Active TSS	Monocytes-CD14+_RO01746	blood
8	chr10:95653000-95654400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:95653000-95654400	Active TSS	NH-A	brain
10	chr10:95653000-95654600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:95653000-95654600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr10:95653000-95654600	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr10:95653000-95654600	Active TSS	A549	lung
14	chr10:95653000-95654600	Active TSS	HepG2	liver
15	chr10:95653000-95654600	Active TSS	K562	blood
16	chr10:95653000-95654800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:95653000-95655200	Active TSS	Rectal Smooth Muscle	rectum
18	chr10:95653200-95653600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:95653200-95653600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr10:95653200-95653600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr10:95653200-95653600	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr10:95653200-95653600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr10:95653200-95653600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr10:95653200-95653600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr10:95653200-95653600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr10:95653200-95653600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:95653200-95653600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr10:95653200-95653600	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr10:95653200-95653600	Flanking Active TSS	Fetal Lung	lung
30	chr10:95653200-95653600	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr10:95653200-95653600	Flanking Active TSS	Hela-S3	cervix
32	chr10:95653200-95653600	Flanking Active TSS	NHEK	skin
33	chr10:95653200-95653800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr10:95653200-95653800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:95653200-95654000	Active TSS	Brain Germinal Matrix	brain
36	chr10:95653200-95654200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr10:95653200-95654200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:95653200-95654200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:95653200-95654200	Active TSS	Primary B cells from cord blood	blood
40	chr10:95653200-95654200	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
41	chr10:95653200-95654200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr10:95653200-95654200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr10:95653200-95654200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr10:95653200-95654200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr10:95653200-95654200	Active TSS	Liver	Liver
46	chr10:95653200-95654200	Active TSS	Brain Cingulate Gyrus	brain
47	chr10:95653200-95654200	Active TSS	Brain Hippocampus Middle	brain
48	chr10:95653200-95654200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr10:95653200-95654200	Active TSS	Fetal Muscle Trunk	muscle
50	chr10:95653200-95654200	Active TSS	Placenta	Placenta

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