Variant report

Variant	rs11828748
Chromosome Location	chr11:9781021-9781022
allele	A/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	CTCF	chr11:9781000-9781150	HAc	cerebellar:	n/a	n/a
2	ZNF263	chr11:9779477-9781742	HEK293-T-REx	kidney:	n/a	chr11:9779613-9779622
3	JUND	chr11:9780977-9782191	SK-N-SH	brain:	n/a	chr11:9781419-9781427 chr11:9781316-9781324 chr11:9781500-9781512 chr11:9781503-9781510 chr11:9781501-9781510 chr11:9781498-9781509 chr11:9781502-9781511 chr11:9781420-9781427 chr11:9781419-9781427 chr11:9781500-9781511 chr11:9781501-9781511 chr11:9781415-9781426
4	POLR2A	chr11:9780862-9781121	ECC-1	luminal epithelium:	n/a	n/a
5	PBX3	chr11:9780881-9781622	A549	lung:	n/a	n/a
6	FOSL2	chr11:9780287-9781925	A549	lung:	n/a	chr11:9781419-9781427 chr11:9781316-9781324 chr11:9781500-9781512 chr11:9781503-9781510 chr11:9781501-9781510 chr11:9781498-9781509 chr11:9781502-9781511 chr11:9781420-9781427 chr11:9781419-9781427 chr11:9781501-9781511 chr11:9781415-9781426 chr11:9781418-9781429
7	SMARCC1	chr11:9779463-9781816	Hela-S3	cervix:	n/a	chr11:9781502-9781511 chr11:9781316-9781325
8	MAX	chr11:9780984-9781552	HepG2	liver:	n/a	chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
9	MAX	chr11:9781010-9781591	K562	blood:	n/a	chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
10	MAFK	chr11:9780975-9781726	IMR90	lung:	n/a	chr11:9781503-9781512
11	POLR2A	chr11:9776527-9782028	PANC-1	pancreas:	n/a	n/a
12	SP1	chr11:9779303-9781766	A549	lung:	n/a	chr11:9781334-9781343 chr11:9779714-9779728 chr11:9779718-9779727 chr11:9779717-9779729 chr11:9781333-9781343 chr11:9779719-9779728 chr11:9781333-9781347 chr11:9779717-9779729 chr11:9779779-9779791 chr11:9780405-9780414
13	CTCF	chr11:9779354-9782085	SK-N-SH	brain:	n/a	chr11:9779809-9779830 chr11:9779810-9779823 chr11:9779744-9779757 chr11:9781171-9781184 chr11:9779807-9779825 chr11:9780473-9780486 chr11:9780203-9780216
14	MAX	chr11:9780994-9781719	ECC-1	luminal epithelium:	n/a	chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
15	TCF12	chr11:9780014-9781926	ECC-1	luminal epithelium:	n/a	chr11:9781281-9781288
16	POLR2A	chr11:9778827-9782252	U87	brain:	n/a	n/a
17	SMARCB1	chr11:9779473-9781613	Hela-S3	cervix:	n/a	chr11:9781502-9781511 chr11:9781316-9781325
18	JUND	chr11:9779222-9782364	SK-N-SH	brain:	n/a	chr11:9781419-9781427 chr11:9781316-9781324 chr11:9781500-9781512 chr11:9781503-9781510 chr11:9781501-9781510 chr11:9781498-9781509 chr11:9781502-9781511 chr11:9781420-9781427 chr11:9781419-9781427 chr11:9781500-9781511 chr11:9781501-9781511 chr11:9779717-9779726 chr11:9781415-9781426
19	HEY1	chr11:9779369-9781454	HepG2	liver:	n/a	chr11:9780422-9780437 chr11:9781444-9781453
20	ZBTB33	chr11:9781005-9781662	A549	lung:	n/a	n/a
21	POLR2A	chr11:9779440-9781470	K562	blood:	n/a	n/a
22	BCL3	chr11:9780791-9781753	A549	lung:	n/a	chr11:9781418-9781427
23	RXRA	chr11:9780946-9782130	SK-N-SH	brain:	n/a	chr11:9782064-9782086
24	ETS1	chr11:9780793-9781499	A549	lung:	n/a	n/a
25	EP300	chr11:9780020-9781766	A549	lung:	n/a	chr11:9780189-9780205 chr11:9781418-9781427 chr11:9781501-9781510 chr11:9780812-9780821
26	MAX	chr11:9780912-9781662	A549	lung:	n/a	chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
27	POLR2A	chr11:9781006-9782159	SK-N-SH	brain:	n/a	n/a
28	CTCF	chr11:9781000-9781150	HRE	kidney:	n/a	n/a
29	TBP	chr11:9780918-9781143	HepG2	liver:	n/a	n/a
30	JUND	chr11:9781009-9781659	K562	blood:	n/a	chr11:9781419-9781427 chr11:9781316-9781324 chr11:9781500-9781512 chr11:9781503-9781510 chr11:9781501-9781510 chr11:9781498-9781509 chr11:9781502-9781511 chr11:9781420-9781427 chr11:9781419-9781427 chr11:9781500-9781511 chr11:9781501-9781511 chr11:9781415-9781426
31	FOSL1	chr11:9780853-9781930	HCT-116	colon:	n/a	chr11:9781419-9781427 chr11:9781316-9781324 chr11:9781500-9781512 chr11:9781417-9781428 chr11:9781503-9781510 chr11:9781501-9781510 chr11:9781498-9781509 chr11:9781502-9781511 chr11:9781420-9781427 chr11:9781419-9781427 chr11:9781501-9781511 chr11:9781415-9781426
32	RCOR1	chr11:9779374-9782715	IMR90	lung:	n/a	n/a
33	REST	chr11:9780901-9781589	PANC-1	pancreas:	n/a	n/a
34	ELF1	chr11:9779396-9781068	GM12878	blood:	n/a	chr11:9780521-9780533
35	RAD21	chr11:9779401-9781606	A549	lung:	n/a	chr11:9779813-9779823 chr11:9780472-9780486 chr11:9779808-9779827 chr11:9780523-9780536
36	CHD2	chr11:9779494-9781622	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr11:9779394-9781513	GM19099	blood:	n/a	n/a
38	TCF7L2	chr11:9780270-9781663	HCT-116	colon:	n/a	chr11:9781502-9781511
39	MXI1	chr11:9779263-9782690	IMR90	lung:	n/a	n/a
40	TFAP2C	chr11:9779435-9781682	Hela-S3	cervix:	n/a	n/a
41	MAX	chr11:9779083-9782036	A549	lung:	n/a	chr11:9780798-9780808 chr11:9779083-9779094 chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
42	POLR2A	chr11:9779384-9781568	Raji	blood:	n/a	n/a
43	SIX5	chr11:9780243-9781155	A549	lung:	n/a	n/a
44	RAD21	chr11:9779434-9781789	HCT-116	colon:	n/a	chr11:9779813-9779823 chr11:9780472-9780486 chr11:9779808-9779827 chr11:9780523-9780536 chr11:9781753-9781766
45	YY1	chr11:9781021-9781545	HCT-116	colon:	n/a	chr11:9781122-9781133
46	FOXA2	chr11:9780881-9781705	A549	lung:	n/a	n/a
47	EP300	chr11:9779464-9782182	SK-N-SH	brain:	n/a	chr11:9780189-9780205 chr11:9779762-9779778 chr11:9781418-9781427 chr11:9781501-9781510 chr11:9780812-9780821
48	CHD2	chr11:9780996-9781564	GM12878	blood:	n/a	n/a
49	JUND	chr11:9780893-9782169	SK-N-SH	brain:	n/a	chr11:9781419-9781427 chr11:9781316-9781324 chr11:9781500-9781512 chr11:9781503-9781510 chr11:9781501-9781510 chr11:9781498-9781509 chr11:9781502-9781511 chr11:9781420-9781427 chr11:9781419-9781427 chr11:9781500-9781511 chr11:9781501-9781511 chr11:9781415-9781426
50	ATF3	chr11:9780839-9781519	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9481460..9483596-chr11:9780067..9782132,2	K562	blood:
2	chr11:9777333..9782154-chr11:10324598..10331360,10	MCF-7	breast:
3	chr11:9481642..9483596-chr11:9779160..9782132,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SBF2-2	chr11:9780976-9781080	ENSG00000245522

Variant related genes	Relation type
ENSG00000245522	TF binding region
ENSG00000148926	Chromatin interaction
ENSG00000254554	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000133805	Chromatin interaction
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10840300	0.81[ASN][1000 genomes]
rs10840301	0.82[ASN][1000 genomes]
rs360122	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9779200-9781400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:9779200-9781400	Active TSS	Fetal Kidney	kidney
3	chr11:9779400-9781200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr11:9779400-9781200	Flanking Active TSS	Dnd41	blood
5	chr11:9779400-9781400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:9779400-9781600	Flanking Active TSS	Colonic Mucosa	Colon
7	chr11:9779400-9781800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:9779400-9781800	Flanking Active TSS	Osteobl	bone
9	chr11:9779400-9782200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr11:9780000-9781200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:9780200-9782200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:9780200-9786600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:9780400-9781200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:9780400-9781200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr11:9780400-9781200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:9780400-9781200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr11:9780400-9781200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:9780400-9781200	Flanking Active TSS	Esophagus	oesophagus
19	chr11:9780400-9781200	Flanking Active TSS	Placenta	Placenta
20	chr11:9780400-9781200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:9780400-9781200	Flanking Active TSS	GM12878-XiMat	blood
22	chr11:9780400-9781200	Flanking Active TSS	NHEK	skin
23	chr11:9780400-9781400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr11:9780400-9781400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:9780400-9781400	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr11:9780400-9781600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr11:9780400-9781600	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr11:9780400-9781600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr11:9780400-9781600	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr11:9780400-9781600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr11:9780400-9781800	Flanking Active TSS	Hela-S3	cervix
32	chr11:9780400-9782000	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr11:9780400-9782200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:9780400-9782200	Enhancers	Lung	lung
35	chr11:9780600-9781200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr11:9780600-9781200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:9780600-9781200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr11:9780600-9781200	Flanking Active TSS	Pancreas	Pancrea
39	chr11:9780600-9781200	Flanking Active TSS	Right Atrium	heart
40	chr11:9780600-9781200	Flanking Active TSS	Right Ventricle	heart
41	chr11:9780600-9781200	Flanking Active TSS	NHDF-Ad	bronchial
42	chr11:9780600-9781400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:9780600-9781400	Enhancers	Fetal Lung	lung
44	chr11:9780600-9781600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:9780600-9781600	Enhancers	Primary T cells from cord blood	blood
46	chr11:9780600-9781600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:9780600-9781600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:9780600-9781600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:9780600-9781600	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr11:9780600-9781800	Flanking Active TSS	Brain Anterior Caudate	brain

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