Variant report

Variant	rs1462942
Chromosome Location	chr11:10563125-10563126
allele	C/G
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	SP1	chr11:10562323-10563182	A549	lung:	n/a	chr11:10562505-10562515 chr11:10562786-10562795 chr11:10562785-10562797 chr11:10562786-10562800 chr11:10562786-10562796 chr11:10562785-10562796 chr11:10562786-10562795 chr11:10562785-10562797 chr11:10562690-10562703 chr11:10562787-10562796 chr11:10562786-10562796
2	SMARCB1	chr11:10562049-10563141	Hela-S3	cervix:	n/a	n/a
3	SRF	chr11:10562502-10563137	MCF-7	breast:	n/a	n/a
4	MYC	chr11:10562308-10563140	NB4	blood:	n/a	n/a
5	POLR2A	chr11:10562135-10563267	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr11:10563096-10563202	Spleen_OC	spleen:	n/a	n/a
7	SP1	chr11:10562429-10563142	A549	lung:	n/a	chr11:10562505-10562515 chr11:10562786-10562795 chr11:10562785-10562797 chr11:10562786-10562800 chr11:10562786-10562796 chr11:10562785-10562796 chr11:10562786-10562795 chr11:10562785-10562797 chr11:10562690-10562703 chr11:10562787-10562796 chr11:10562786-10562796
8	POLR2A	chr11:10562336-10563131	A549	lung:	n/a	n/a
9	GATA2	chr11:10562269-10563496	SH-SY5Y	brain:	n/a	n/a
10	JUND	chr11:10562515-10563145	A549	lung:	n/a	chr11:10562788-10562797
11	MAX	chr11:10562696-10563331	H1-hESC	embryonic stem cell:	n/a	n/a
12	RCOR1	chr11:10562535-10563153	GM12878	blood:	n/a	n/a
13	MAX	chr11:10562057-10563285	A549	lung:	n/a	n/a
14	MAFK	chr11:10562252-10563208	Hela-S3	cervix:	n/a	n/a
15	MAZ	chr11:10561553-10563196	IMR90	lung:	n/a	n/a
16	POLR2A	chr11:10562268-10563126	U87	brain:	n/a	n/a
17	POLR2A	chr11:10562128-10563168	K562	blood:	n/a	n/a
18	CTCF	chr11:10562517-10563133	K562	blood:	n/a	n/a
19	POLR2A	chr11:10562290-10563125	HL-60	blood:	n/a	n/a
20	MAX	chr11:10562176-10563160	HepG2	liver:	n/a	n/a
21	MAX	chr11:10562422-10563146	H1-hESC	embryonic stem cell:	n/a	n/a
22	SMC3	chr11:10562013-10563140	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr11:10562624-10563207	K562	blood:	n/a	chr11:10563153-10563170
24	CTCF	chr11:10562557-10563197	GM12878	blood:	n/a	n/a
25	MXI1	chr11:10561562-10563951	IMR90	lung:	n/a	n/a
26	BHLHE40	chr11:10562559-10563127	K562	blood:	n/a	chr11:10562691-10562707
27	YY1	chr11:10562079-10563171	HepG2	liver:	n/a	chr11:10562533-10562542 chr11:10562787-10562796 chr11:10562701-10562712
28	MAX	chr11:10562115-10563154	K562	blood:	n/a	n/a
29	POLR2A	chr11:10562165-10563128	PANC-1	pancreas:	n/a	n/a
30	MAX	chr11:10562106-10563208	ECC-1	luminal epithelium:	n/a	n/a
31	E2F6	chr11:10562127-10563201	A549	lung:	n/a	chr11:10562533-10562542 chr11:10562787-10562796
32	CREB1	chr11:10562061-10563128	HepG2	liver:	n/a	n/a
33	CTCF	chr11:10562567-10563178	IMR90	lung:	n/a	n/a
34	TFAP2C	chr11:10562037-10563210	Hela-S3	cervix:	n/a	n/a
35	RAD21	chr11:10562478-10563134	A549	lung:	n/a	n/a
36	MAX	chr11:10562152-10563226	A549	lung:	n/a	n/a
37	KAP1	chr11:10562593-10563416	U2OS	brain:	n/a	chr11:10562594-10562602
38	POLR2A	chr11:10561551-10563218	SK-N-MC	brain:	n/a	n/a
39	HCFC1	chr11:10562070-10563280	K562	blood:	n/a	n/a
40	MAFK	chr11:10562674-10563156	K562	blood:	n/a	n/a
41	CEBPB	chr11:10562628-10563304	HepG2	liver:	n/a	chr11:10563153-10563170
42	MXI1	chr11:10562138-10563282	GM12878	blood:	n/a	n/a
43	REST	chr11:10561831-10563363	H1-neurons	neurons:	n/a	chr11:10562649-10562669 chr11:10562648-10562657
44	E2F6	chr11:10562259-10563177	K562	blood:	n/a	chr11:10562533-10562542 chr11:10562787-10562796
45	MXI1	chr11:10561651-10564161	SK-N-SH	brain:	n/a	n/a
46	CTCF	chr11:10562627-10563126	Fibrobl	skin:	n/a	n/a
47	POLR2A	chr11:10561837-10563242	H1-neurons	neurons:	n/a	n/a
48	CTCF	chr11:10562525-10563169	K562	blood:	n/a	n/a
49	CREB1	chr11:10562120-10563139	GM12878	blood:	n/a	n/a
50	MAX	chr11:10562474-10563184	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:10476884..10479039-chr11:10561132..10563728,3	K562	blood:
2	chr11:10560102..10563921-chr11:10672313..10677222,4	MCF-7	breast:
3	chr11:10471184..10472852-chr11:10561290..10564176,2	K562	blood:

Variant related genes	Relation type
RNF141	TF binding region
ENSG00000072952	Chromatin interaction
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1037998	1.00[AMR][1000 genomes]
rs10743143	1.00[AMR][1000 genomes]
rs1381892	1.00[AMR][1000 genomes]
rs1545743	1.00[AMR][1000 genomes]
rs1993820	1.00[AMR][1000 genomes]
rs2403332	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4909937	1.00[AMR][1000 genomes]
rs4909939	1.00[AMR][1000 genomes]
rs4910132	1.00[AMR][1000 genomes]
rs4910138	1.00[AMR][1000 genomes]
rs4910147	1.00[AMR][1000 genomes]
rs4910155	1.00[AMR][1000 genomes]
rs4910159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103710	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7106708	1.00[AMR][1000 genomes]
rs7122978	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1044011	chr11:10529353-10564450	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10560800-10563200	Active TSS	Aorta	Aorta
2	chr11:10561200-10563400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:10561400-10563200	Active TSS	Right Atrium	heart
4	chr11:10561400-10563200	Active TSS	NHDF-Ad	bronchial
5	chr11:10561400-10563400	Active TSS	Stomach Smooth Muscle	stomach
6	chr11:10561400-10563400	Active TSS	NHLF	lung
7	chr11:10561600-10563200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:10561600-10563200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr11:10561600-10563200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:10561600-10563200	Active TSS	Colonic Mucosa	Colon
11	chr11:10561600-10563200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:10561600-10563200	Active TSS	Lung	lung
13	chr11:10561600-10563200	Active TSS	Placenta Amnion	Placenta Amnion
14	chr11:10561600-10563200	Active TSS	Psoas Muscle	Psoas
15	chr11:10561600-10563400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:10561600-10563400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:10561600-10563400	Active TSS	Esophagus	oesophagus
18	chr11:10561800-10563200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:10561800-10563200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr11:10561800-10563200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:10561800-10563200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:10561800-10563200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:10561800-10563200	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr11:10561800-10563200	Active TSS	Ovary	ovary
25	chr11:10561800-10563200	Active TSS	Right Ventricle	heart
26	chr11:10561800-10563200	Active TSS	A549	lung
27	chr11:10561800-10563200	Active TSS	HSMM	muscle
28	chr11:10561800-10563400	Active TSS	Brain Angular Gyrus	brain
29	chr11:10562000-10563200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr11:10562000-10563200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr11:10562000-10563200	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr11:10562000-10563200	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr11:10562000-10563200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:10562000-10563200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:10562000-10563200	Active TSS	Fetal Brain Female	brain
36	chr11:10562000-10563200	Active TSS	Fetal Intestine Large	intestine
37	chr11:10562000-10563200	Active TSS	Pancreas	Pancrea
38	chr11:10562000-10563200	Active TSS	HSMMtube	muscle
39	chr11:10562000-10563400	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr11:10562000-10563400	Active TSS	Brain Anterior Caudate	brain
41	chr11:10562000-10563400	Active TSS	Fetal Brain Male	brain
42	chr11:10562000-10563400	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr11:10562000-10563600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:10562200-10563200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:10562200-10563200	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr11:10562200-10563200	Active TSS	Fetal Kidney	kidney
47	chr11:10562200-10563200	Active TSS	Fetal Lung	lung
48	chr11:10562200-10563200	Active TSS	Rectal Smooth Muscle	rectum
49	chr11:10562200-10563200	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr11:10562200-10563400	Active TSS	Primary T cells from cord blood	blood

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