Variant report

Variant	rs360121
Chromosome Location	chr11:9781208-9781209
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	EBF1	chr11:9781100-9781729	GM12878	blood:	n/a	chr11:9781339-9781350
2	USF1	chr11:9781117-9781630	SK-N-SH	brain:	n/a	chr11:9781445-9781454 chr11:9781444-9781453 chr11:9781444-9781453
3	ZNF263	chr11:9779477-9781742	HEK293-T-REx	kidney:	n/a	chr11:9779613-9779622
4	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
5	PBX3	chr11:9780881-9781622	A549	lung:	n/a	n/a
6	STAT3	chr11:9781164-9781589	MCF10A-Er-Src	breast:	n/a	chr11:9781502-9781511
7	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
8	MAX	chr11:9781189-9781604	K562	blood:	n/a	chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
9	SMARCC1	chr11:9779463-9781816	Hela-S3	cervix:	n/a	chr11:9781502-9781511 chr11:9781316-9781325
10	MXI1	chr11:9781126-9781591	HepG2	liver:	n/a	n/a
11	YY1	chr11:9781032-9781449	A549	lung:	n/a	chr11:9781122-9781133
12	MAX	chr11:9780984-9781552	HepG2	liver:	n/a	chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
13	USF1	chr11:9781119-9781656	A549	lung:	n/a	chr11:9781445-9781454 chr11:9781444-9781453 chr11:9781444-9781453
14	MAX	chr11:9781010-9781591	K562	blood:	n/a	chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
15	BATF	chr11:9781165-9781629	GM12878	blood:	n/a	chr11:9781420-9781430 chr11:9781419-9781430
16	MAFK	chr11:9780975-9781726	IMR90	lung:	n/a	chr11:9781503-9781512
17	POLR2A	chr11:9776527-9782028	PANC-1	pancreas:	n/a	n/a
18	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
19	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
20	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
21	REST	chr11:9781124-9781552	SK-N-SH	brain:	n/a	n/a
22	RUNX3	chr11:9781135-9781649	GM12878	blood:	n/a	chr11:9781397-9781414
23	TCF12	chr11:9780014-9781926	ECC-1	luminal epithelium:	n/a	chr11:9781281-9781288
24	POLR2A	chr11:9778827-9782252	U87	brain:	n/a	n/a
25	SMARCB1	chr11:9779473-9781613	Hela-S3	cervix:	n/a	chr11:9781502-9781511 chr11:9781316-9781325
26	FOS	chr11:9781108-9781711	MCF10A-Er-Src	breast:	n/a	chr11:9781419-9781427 chr11:9781316-9781324 chr11:9781500-9781512 chr11:9781503-9781510 chr11:9781501-9781510 chr11:9781417-9781428 chr11:9781498-9781509 chr11:9781502-9781511 chr11:9781420-9781427 chr11:9781419-9781427 chr11:9781501-9781511 chr11:9781415-9781426
27	TCF3	chr11:9781153-9781584	GM12878	blood:	n/a	n/a
28	ZKSCAN1	chr11:9781053-9781592	Hela-S3	cervix:	n/a	n/a
29	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
30	HEY1	chr11:9779369-9781454	HepG2	liver:	n/a	chr11:9780422-9780437 chr11:9781444-9781453
31	E2F1	chr11:9781189-9781551	Hela-S3	cervix:	n/a	n/a
32	ZBTB33	chr11:9781005-9781662	A549	lung:	n/a	n/a
33	POLR2A	chr11:9779440-9781470	K562	blood:	n/a	n/a
34	EP300	chr11:9781111-9781562	SK-N-SH_RA	brain:	n/a	chr11:9781418-9781427 chr11:9781501-9781510
35	BCL3	chr11:9780791-9781753	A549	lung:	n/a	chr11:9781418-9781427
36	RXRA	chr11:9780946-9782130	SK-N-SH	brain:	n/a	chr11:9782064-9782086
37	POLR2A	chr11:9781062-9781575	MCF10A-Er-Src	breast:	n/a	n/a
38	ETS1	chr11:9780793-9781499	A549	lung:	n/a	n/a
39	EP300	chr11:9780020-9781766	A549	lung:	n/a	chr11:9780189-9780205 chr11:9781418-9781427 chr11:9781501-9781510 chr11:9780812-9780821
40	MAX	chr11:9780912-9781662	A549	lung:	n/a	chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
41	POLR2A	chr11:9781006-9782159	SK-N-SH	brain:	n/a	n/a
42	TCF7L2	chr11:9781092-9781605	Hela-S3	cervix:	n/a	chr11:9781502-9781511
43	SIN3AK20	chr11:9781044-9781561	SK-N-SH	brain:	n/a	n/a
44	FOXA1	chr11:9781067-9781418	T-47D	breast:	n/a	n/a
45	E2F6	chr11:9781192-9781434	K562	blood:	n/a	n/a
46	GATA2	chr11:9781135-9781607	HUVEC	blood vessel:	n/a	chr11:9781500-9781509
47	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
48	USF1	chr11:9781169-9781631	A549	lung:	n/a	chr11:9781445-9781454 chr11:9781444-9781453 chr11:9781444-9781453
49	RELA	chr11:9781167-9781520	GM19193	blood:	n/a	n/a
50	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

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:

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

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11042504	1.00[EUR][1000 genomes]
rs11042508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042513	1.00[EUR][1000 genomes]
rs11042520	1.00[EUR][1000 genomes]
rs11042522	1.00[EUR][1000 genomes]
rs11042537	1.00[EUR][1000 genomes]
rs11042538	1.00[EUR][1000 genomes]
rs12270313	1.00[EUR][1000 genomes]
rs12285985	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12290340	1.00[EUR][1000 genomes]
rs12291871	1.00[EUR][1000 genomes]
rs12294282	1.00[EUR][1000 genomes]
rs12295264	1.00[EUR][1000 genomes]
rs13377352	1.00[EUR][1000 genomes]
rs57108291	1.00[EUR][1000 genomes]
rs57125659	1.00[EUR][1000 genomes]
rs57460369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57669768	1.00[EUR][1000 genomes]
rs60528623	1.00[EUR][1000 genomes]
rs7116821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7358421	1.00[EUR][1000 genomes]
rs7358470	1.00[EUR][1000 genomes]
rs9630162	1.00[EUR][1000 genomes]
rs9971601	1.00[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:116 , 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	chr11:9779400-9781400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:9779400-9781600	Flanking Active TSS	Colonic Mucosa	Colon
5	chr11:9779400-9781800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:9779400-9781800	Flanking Active TSS	Osteobl	bone
7	chr11:9779400-9782200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr11:9780200-9782200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:9780200-9786600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:9780400-9781400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr11:9780400-9781400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:9780400-9781400	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr11:9780400-9781600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr11:9780400-9781600	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr11:9780400-9781600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr11:9780400-9781600	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr11:9780400-9781600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr11:9780400-9781800	Flanking Active TSS	Hela-S3	cervix
19	chr11:9780400-9782000	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr11:9780400-9782200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:9780400-9782200	Enhancers	Lung	lung
22	chr11:9780600-9781400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:9780600-9781400	Enhancers	Fetal Lung	lung
24	chr11:9780600-9781600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:9780600-9781600	Enhancers	Primary T cells from cord blood	blood
26	chr11:9780600-9781600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:9780600-9781600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:9780600-9781600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:9780600-9781600	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr11:9780600-9781800	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr11:9780600-9781800	Enhancers	Stomach Mucosa	stomach
32	chr11:9780600-9781800	Enhancers	Spleen	Spleen
33	chr11:9780600-9781800	Flanking Active TSS	A549	lung
34	chr11:9780600-9782000	Enhancers	Psoas Muscle	Psoas
35	chr11:9780600-9782600	Enhancers	Ovary	ovary
36	chr11:9780600-9782600	Enhancers	HMEC	breast
37	chr11:9780600-9813200	Weak transcription	Small Intestine	intestine
38	chr11:9780800-9781400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr11:9780800-9781400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr11:9780800-9781400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr11:9780800-9781400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr11:9780800-9781400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr11:9780800-9781400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr11:9780800-9781600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr11:9780800-9781600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:9780800-9781600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:9780800-9781600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr11:9780800-9781600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr11:9780800-9781600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:9780800-9781800	Enhancers	H9 Cell Line	embryonic stem cell

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