Variant report

Variant	rs11185827
Chromosome Location	chr10:91405889-91405890
allele	C/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	MXI1	chr10:91403283-91406204	HepG2	liver:	n/a	n/a
2	ZNF143	chr10:91405565-91406036	K562	blood:	n/a	n/a
3	CEBPB	chr10:91405673-91405995	H1-hESC	embryonic stem cell:	n/a	chr10:91405856-91405867
4	MAX	chr10:91404737-91405903	H1-hESC	embryonic stem cell:	n/a	chr10:91405450-91405460
5	REST	chr10:91404853-91406031	HepG2	liver:	n/a	n/a
6	POLR2A	chr10:91405879-91405998	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr10:91403644-91406106	HepG2	liver:	n/a	n/a
8	POLR2A	chr10:91404878-91406036	HepG2	liver:	n/a	n/a
9	EP300	chr10:91405068-91405922	GM12878	blood:	n/a	n/a
10	MAX	chr10:91403560-91405896	K562	blood:	n/a	chr10:91405450-91405460
11	POLR2A	chr10:91403300-91406084	HepG2	liver:	n/a	n/a
12	POLR2A	chr10:91403289-91406020	HepG2	liver:	n/a	n/a
13	MYBL2	chr10:91404864-91406155	HepG2	liver:	n/a	n/a
14	POLR2A	chr10:91403202-91406021	GM12891	blood:	n/a	n/a
15	CEBPB	chr10:91405670-91406054	K562	blood:	n/a	chr10:91405856-91405867
16	CEBPB	chr10:91405679-91406024	IMR90	lung:	n/a	chr10:91405856-91405867
17	MXI1	chr10:91402981-91406341	SK-N-SH	brain:	n/a	n/a
18	TBP	chr10:91404786-91405996	HepG2	liver:	n/a	n/a
19	JUND	chr10:91405525-91405895	HepG2	liver:	n/a	n/a
20	MAX	chr10:91403398-91405939	NB4	blood:	n/a	chr10:91405450-91405460
21	CEBPB	chr10:91404924-91406046	HepG2	liver:	n/a	chr10:91405856-91405867
22	MBD4	chr10:91405199-91406130	HepG2	liver:	n/a	n/a
23	FOXA1	chr10:91405055-91406004	HepG2	liver:	n/a	n/a
24	MAX	chr10:91403364-91406116	HepG2	liver:	n/a	chr10:91405450-91405460
25	RAD21	chr10:91405444-91406062	HepG2	liver:	n/a	n/a
26	CREB1	chr10:91403362-91406080	HepG2	liver:	n/a	n/a
27	CEBPB	chr10:91405729-91405950	HepG2	liver:	n/a	chr10:91405856-91405867
28	RAD21	chr10:91405549-91406152	HepG2	liver:	n/a	n/a
29	NRF1	chr10:91405807-91405951	GM12878	blood:	n/a	n/a
30	RCOR1	chr10:91404772-91406012	K562	blood:	n/a	n/a
31	MYC	chr10:91405245-91405940	HepG2	liver:	n/a	chr10:91405450-91405460
32	USF2	chr10:91405390-91405925	HepG2	liver:	n/a	n/a
33	USF2	chr10:91405096-91405982	Hela-S3	cervix:	n/a	n/a
34	EP300	chr10:91404945-91406024	HepG2	liver:	n/a	n/a
35	RCOR1	chr10:91404948-91406015	HepG2	liver:	n/a	n/a
36	POLR2A	chr10:91403510-91406033	K562	blood:	n/a	n/a
37	MYC	chr10:91403559-91405945	K562	blood:	n/a	chr10:91405450-91405460
38	HDAC2	chr10:91405480-91406009	HepG2	liver:	n/a	n/a
39	KAP1	chr10:91405083-91406040	U2OS	brain:	n/a	n/a
40	HDAC2	chr10:91405513-91406039	HepG2	liver:	n/a	n/a
41	MYC	chr10:91403502-91406969	NB4	blood:	n/a	chr10:91405450-91405460
42	POLR2A	chr10:91403205-91406395	HepG2	liver:	n/a	n/a
43	POLR2A	chr10:91403467-91406145	NB4	blood:	n/a	n/a
44	RCOR1	chr10:91403377-91405954	K562	blood:	n/a	n/a
45	HNF4G	chr10:91405449-91406013	HepG2	liver:	n/a	n/a
46	FOXA1	chr10:91405119-91405900	HepG2	liver:	n/a	n/a
47	HNF4A	chr10:91405434-91405935	HepG2	liver:	n/a	chr10:91405721-91405736
48	FOXA1	chr10:91404770-91405957	HepG2	liver:	n/a	n/a
49	POLR2A	chr10:91403274-91406350	H1-hESC	embryonic stem cell:	n/a	n/a
50	KAP1	chr10:91405016-91405996	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:91403635..91406711-chr10:91457604..91462894,9	MCF-7	breast:
2	chr10:91371070..91374344-chr10:91402272..91406788,6	MCF-7	breast:
3	chr10:91401983..91406312-chr10:91459063..91463449,10	K562	blood:
4	chr10:91405159..91405953-chr11:62608642..62609620,2	NB4	blood:
5	chr10:91395971..91398533-chr10:91405647..91407667,2	K562	blood:
6	chr10:91402715..91410625-chr10:91458897..91464646,18	MCF-7	breast:

Variant related genes	Relation type
PANK1	TF binding region
ENSG00000249962	TF binding region
ENSG00000152782	Chromatin interaction
ENSG00000240996	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000235100	Chromatin interaction
ENSG00000138182	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10881624	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10881641	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10881680	0.84[ASN][1000 genomes]
rs11185822	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11185823	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11185824	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11185828	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185840	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185843	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185844	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185848	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185849	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12254780	0.84[ASN][1000 genomes]
rs1324701	0.84[ASN][1000 genomes]
rs1998646	0.84[ASN][1000 genomes]
rs2104370	0.84[ASN][1000 genomes]
rs58526788	0.82[ASN][1000 genomes]
rs729043	0.84[ASN][1000 genomes]
rs735934	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3419628	chr10:91403597-91406145	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91405000-91406000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr10:91405000-91406000	Flanking Active TSS	Dnd41	blood
3	chr10:91405000-91406400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr10:91405000-91406600	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr10:91405200-91406000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:91405200-91406000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr10:91405200-91406000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr10:91405200-91406000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr10:91405200-91406000	Flanking Active TSS	Liver	Liver
10	chr10:91405200-91406000	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr10:91405200-91406000	Flanking Active TSS	Brain Substantia Nigra	brain
12	chr10:91405200-91406000	Flanking Active TSS	Fetal Brain Male	brain
13	chr10:91405200-91406000	Flanking Active TSS	Fetal Intestine Large	intestine
14	chr10:91405200-91406000	Flanking Active TSS	Fetal Intestine Small	intestine
15	chr10:91405200-91406000	Flanking Active TSS	GM12878-XiMat	blood
16	chr10:91405200-91406000	Flanking Active TSS	HSMMtube	muscle
17	chr10:91405200-91406000	Flanking Active TSS	NHDF-Ad	bronchial
18	chr10:91405200-91406200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr10:91405200-91406200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr10:91405200-91406200	Flanking Active TSS	Hela-S3	cervix
21	chr10:91405200-91406400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr10:91405200-91406400	Flanking Active TSS	HepG2	liver
23	chr10:91405400-91406000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:91405400-91406000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:91405400-91406000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr10:91405400-91406000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr10:91405400-91406000	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr10:91405400-91406000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr10:91405400-91406000	Flanking Active TSS	Fetal Kidney	kidney
30	chr10:91405400-91406000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr10:91405400-91406000	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr10:91405400-91406000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr10:91405400-91406000	Flanking Active TSS	A549	lung
34	chr10:91405400-91406200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:91405400-91406200	Flanking Active TSS	Fetal Brain Female	brain
36	chr10:91405400-91406200	Flanking Active TSS	Fetal Heart	heart
37	chr10:91405400-91406200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr10:91405400-91406200	Flanking Active TSS	K562	blood
39	chr10:91405600-91406000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr10:91405600-91406000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:91405600-91406000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:91405600-91406000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr10:91405600-91406000	Enhancers	Brain Hippocampus Middle	brain
44	chr10:91405600-91406000	Enhancers	Colonic Mucosa	Colon
45	chr10:91405600-91406000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr10:91405600-91406000	Enhancers	Small Intestine	intestine
47	chr10:91405600-91406000	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr10:91405600-91406000	Enhancers	HMEC	breast
49	chr10:91405600-91406000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr10:91405600-91406200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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