Variant report

Variant	rs72962020
Chromosome Location	chr11:85862728-85862729
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	TBP	chr11:85862293-85862846	K562	blood:	n/a	n/a
2	TEAD4	chr11:85862525-85863816	SK-N-SH	brain:	n/a	n/a
3	IRF1	chr11:85861883-85862874	K562	blood:	n/a	chr11:85862246-85862263
4	MAX	chr11:85862392-85862749	K562	blood:	n/a	n/a
5	MAX	chr11:85862363-85862734	K562	blood:	n/a	n/a
6	FOS	chr11:85862723-85862851	MCF10A-Er-Src	breast:	n/a	n/a
7	RCOR1	chr11:85862224-85862990	K562	blood:	n/a	n/a
8	TEAD4	chr11:85862499-85863857	SK-N-SH	brain:	n/a	n/a
9	HCFC1	chr11:85862309-85862732	K562	blood:	n/a	n/a
10	POLR2A	chr11:85862266-85862774	K562	blood:	n/a	n/a
11	CEBPB	chr11:85862229-85862931	K562	blood:	n/a	n/a
12	GATA2	chr11:85862256-85862792	K562	blood:	n/a	chr11:85862582-85862591 chr11:85862579-85862595 chr11:85862579-85862595
13	STAT5A	chr11:85862198-85862925	K562	blood:	n/a	chr11:85862420-85862432 chr11:85862725-85862732
14	POLR2A	chr11:85862595-85863021	SK-N-SH	brain:	n/a	n/a
15	PBX3	chr11:85862475-85863770	SK-N-SH	brain:	n/a	chr11:85863700-85863709
16	SPI1	chr11:85862395-85862776	K562	blood:	n/a	n/a
17	RFX5	chr11:85862626-85862857	Hela-S3	cervix:	n/a	n/a
18	CEBPD	chr11:85862166-85862943	K562	blood:	n/a	chr11:85862695-85862706
19	ARID3A	chr11:85862199-85862766	K562	blood:	n/a	n/a
20	SMC3	chr11:85862356-85862895	Hela-S3	cervix:	n/a	n/a
21	HDAC2	chr11:85862239-85862748	K562	blood:	n/a	n/a
22	ZNF274	chr11:85862221-85862829	K562	blood:	n/a	n/a
23	RCOR1	chr11:85862145-85863128	K562	blood:	n/a	n/a
24	CEBPD	chr11:85862219-85862931	K562	blood:	n/a	chr11:85862695-85862706
25	POLR2A	chr11:85862284-85862799	K562	blood:	n/a	n/a
26	NR2F2	chr11:85862238-85862936	K562	blood:	n/a	n/a
27	TAL1	chr11:85862227-85862930	K562	blood:	n/a	n/a
28	EP300	chr11:85862303-85862852	K562	blood:	n/a	n/a
29	MYC	chr11:85862653-85862881	HUVEC	blood vessel:	n/a	n/a
30	GATA1	chr11:85862155-85863361	PBDE	blood:	n/a	chr11:85862582-85862591 chr11:85862579-85862595 chr11:85863030-85863040 chr11:85862579-85862595
31	EP300	chr11:85862596-85862982	SK-N-SH_RA	brain:	n/a	n/a
32	CEBPB	chr11:85862300-85862884	K562	blood:	n/a	n/a
33	EP300	chr11:85862339-85862759	K562	blood:	n/a	n/a
34	POLR2A	chr11:85862435-85863157	HUVEC	blood vessel:	n/a	n/a
35	MAFF	chr11:85862353-85862850	K562	blood:	n/a	n/a
36	POLR2A	chr11:85862663-85862842	ProgFib	skin:	n/a	n/a
37	RXRA	chr11:85862415-85863708	SK-N-SH	brain:	n/a	chr11:85862857-85862870 chr11:85862858-85862869 chr11:85862857-85862870
38	TRIM28	chr11:85862194-85862901	K562	blood:	n/a	n/a
39	EP300	chr11:85861922-85863871	SK-N-SH	brain:	n/a	chr11:85862141-85862150
40	NFIC	chr11:85862471-85863110	SK-N-SH	brain:	n/a	n/a
41	CUX1	chr11:85862238-85862961	K562	blood:	n/a	n/a
42	CREB1	chr11:85862172-85862988	K562	blood:	n/a	n/a
43	ATF1	chr11:85862315-85862840	K562	blood:	n/a	n/a
44	GABPA	chr11:85862358-85862796	K562	blood:	n/a	n/a
45	PBX3	chr11:85862468-85863860	SK-N-SH	brain:	n/a	chr11:85863700-85863709
46	PML	chr11:85862229-85862867	K562	blood:	n/a	n/a
47	TCF12	chr11:85861737-85863866	SK-N-SH	brain:	n/a	n/a
48	MAX	chr11:85862289-85862985	K562	blood:	n/a	n/a
49	ZNF384	chr11:85862339-85862784	K562	blood:	n/a	n/a
50	GATA2	chr11:85862281-85862950	K562	blood:	n/a	chr11:85862582-85862591 chr11:85862579-85862595 chr11:85862579-85862595

No.	Distal block	Cell Line	Cell type
1	chr11:85860959..85862805-chr11:85920748..85923597,2	K562	blood:
2	chr11:85859696..85863993-chr11:85872249..85875647,5	K562	blood:
3	chr11:85773252..85777138-chr11:85860597..85863727,3	K562	blood:
4	chr11:85860013..85862994-chr11:85864825..85867094,3	MCF-7	breast:
5	chr11:85779872..85782905-chr11:85861004..85863950,3	K562	blood:
6	chr11:85779554..85782905-chr11:85860304..85865248,6	K562	blood:

Variant related genes	Relation type
RNU6-560P	TF binding region
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10501610	0.97[EUR][1000 genomes]
rs56157503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56295979	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72951246	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85854400-85862800	Weak transcription	Primary B cells from cord blood	blood
2	chr11:85857000-85863600	Weak transcription	Stomach Mucosa	stomach
3	chr11:85860000-85863000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:85860400-85862800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr11:85860600-85862800	Enhancers	Osteobl	bone
6	chr11:85861000-85863800	Enhancers	Ovary	ovary
7	chr11:85861000-85864600	Enhancers	Fetal Lung	lung
8	chr11:85861200-85863200	Enhancers	Small Intestine	intestine
9	chr11:85861200-85863200	Enhancers	NHLF	lung
10	chr11:85861200-85863600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:85861200-85863600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:85861200-85863600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr11:85861200-85863800	Enhancers	Aorta	Aorta
14	chr11:85861200-85864000	Enhancers	Colon Smooth Muscle	Colon
15	chr11:85861200-85864200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:85861200-85864200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:85861200-85864200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:85861200-85864200	Enhancers	Fetal Stomach	stomach
19	chr11:85861200-85864400	Enhancers	Fetal Intestine Large	intestine
20	chr11:85861400-85862800	Enhancers	Brain Angular Gyrus	brain
21	chr11:85861400-85863400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr11:85861400-85863800	Enhancers	Fetal Muscle Leg	muscle
23	chr11:85861400-85863800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr11:85861400-85865200	Enhancers	Liver	Liver
25	chr11:85861600-85863400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:85861600-85863400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr11:85861600-85864200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:85861600-85864200	Enhancers	Rectal Smooth Muscle	rectum
29	chr11:85861600-85864400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:85861800-85862800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:85861800-85862800	Enhancers	Dnd41	blood
32	chr11:85861800-85863000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:85861800-85863400	Flanking Active TSS	K562	blood
34	chr11:85861800-85863600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr11:85861800-85863600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr11:85861800-85863600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:85861800-85863600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:85861800-85863600	Enhancers	NHDF-Ad	bronchial
39	chr11:85861800-85863800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:85861800-85863800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:85861800-85863800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:85861800-85863800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:85861800-85864000	Enhancers	Adipose Nuclei	Adipose
44	chr11:85861800-85864800	Enhancers	Duodenum Mucosa	Duodenum
45	chr11:85861800-85865200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:85862000-85862800	Enhancers	NH-A	brain
47	chr11:85862000-85863200	Enhancers	Colonic Mucosa	Colon
48	chr11:85862000-85863200	Enhancers	Esophagus	oesophagus
49	chr11:85862000-85863200	Flanking Active TSS	NHEK	skin
50	chr11:85862000-85863400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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