Variant report

Variant	rs56157503
Chromosome Location	chr11:85863080-85863081
allele	A/C
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	TEAD4	chr11:85862525-85863816	SK-N-SH	brain:	n/a	n/a
2	TEAD4	chr11:85862499-85863857	SK-N-SH	brain:	n/a	n/a
3	EP300	chr11:85863036-85863302	GM12878	blood:	n/a	n/a
4	PBX3	chr11:85862475-85863770	SK-N-SH	brain:	n/a	chr11:85863700-85863709
5	RCOR1	chr11:85862145-85863128	K562	blood:	n/a	n/a
6	GATA1	chr11:85862155-85863361	PBDE	blood:	n/a	chr11:85862582-85862591 chr11:85862579-85862595 chr11:85863030-85863040 chr11:85862579-85862595
7	POLR2A	chr11:85862435-85863157	HUVEC	blood vessel:	n/a	n/a
8	RXRA	chr11:85862415-85863708	SK-N-SH	brain:	n/a	chr11:85862857-85862870 chr11:85862858-85862869 chr11:85862857-85862870
9	EP300	chr11:85861922-85863871	SK-N-SH	brain:	n/a	chr11:85862141-85862150
10	NFIC	chr11:85862471-85863110	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr11:85862468-85863860	SK-N-SH	brain:	n/a	chr11:85863700-85863709
12	TCF12	chr11:85861737-85863866	SK-N-SH	brain:	n/a	n/a
13	RUNX3	chr11:85862658-85863317	GM12878	blood:	n/a	n/a
14	EBF1	chr11:85862807-85863319	GM12878	blood:	n/a	chr11:85863137-85863148
15	GATA1	chr11:85861207-85863137	K562	blood:	n/a	chr11:85862582-85862591 chr11:85862579-85862595 chr11:85863030-85863040 chr11:85862579-85862595
16	GATA3	chr11:85861779-85863825	SK-N-SH	brain:	n/a	chr11:85862582-85862591 chr11:85862579-85862595 chr11:85863030-85863040 chr11:85862579-85862595
17	POLR2A	chr11:85862705-85863202	ECC-1	luminal epithelium:	n/a	n/a
18	TEAD4	chr11:85862924-85863769	ECC-1	luminal epithelium:	n/a	n/a
19	NFIC	chr11:85861769-85863775	SK-N-SH	brain:	n/a	chr11:85862353-85862370
20	NFIC	chr11:85862017-85863706	ECC-1	luminal epithelium:	n/a	chr11:85862353-85862370
21	NFIC	chr11:85861994-85863791	ECC-1	luminal epithelium:	n/a	chr11:85862353-85862370
22	TCF12	chr11:85862582-85863667	ECC-1	luminal epithelium:	n/a	n/a
23	EP300	chr11:85861991-85863778	ECC-1	luminal epithelium:	n/a	chr11:85862141-85862150
24	GATA3	chr11:85862375-85863856	SK-N-SH	brain:	n/a	chr11:85862582-85862591 chr11:85862579-85862595 chr11:85863030-85863040 chr11:85862579-85862595
25	NR2F2	chr11:85862028-85863372	K562	blood:	n/a	n/a
26	EP300	chr11:85862565-85863653	SK-N-SH_RA	brain:	n/a	n/a
27	TCF12	chr11:85861702-85863757	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr11:85862485-85863314	HL-60	blood:	n/a	n/a
29	NR3C1	chr11:85862804-85863226	ECC-1	luminal epithelium:	n/a	chr11:85862984-85862999
30	RXRA	chr11:85862553-85863733	SK-N-SH	brain:	n/a	chr11:85862857-85862870 chr11:85862858-85862869 chr11:85862857-85862870
31	JUND	chr11:85862495-85863740	SK-N-SH	brain:	n/a	chr11:85863427-85863434
32	NR3C1	chr11:85862676-85863184	ECC-1	luminal epithelium:	n/a	chr11:85862984-85862999

No.	Distal block	Cell Line	Cell type
1	chr11:85859696..85863993-chr11:85872249..85875647,5	K562	blood:
2	chr11:85773252..85777138-chr11:85860597..85863727,3	K562	blood:
3	chr11:85779872..85782905-chr11:85861004..85863950,3	K562	blood:
4	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]
rs56295979	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72951246	1.00[AFR][1000 genomes]
rs72962020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85857000-85863600	Weak transcription	Stomach Mucosa	stomach
2	chr11:85861000-85863800	Enhancers	Ovary	ovary
3	chr11:85861000-85864600	Enhancers	Fetal Lung	lung
4	chr11:85861200-85863200	Enhancers	Small Intestine	intestine
5	chr11:85861200-85863200	Enhancers	NHLF	lung
6	chr11:85861200-85863600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:85861200-85863600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:85861200-85863600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr11:85861200-85863800	Enhancers	Aorta	Aorta
10	chr11:85861200-85864000	Enhancers	Colon Smooth Muscle	Colon
11	chr11:85861200-85864200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:85861200-85864200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:85861200-85864200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:85861200-85864200	Enhancers	Fetal Stomach	stomach
15	chr11:85861200-85864400	Enhancers	Fetal Intestine Large	intestine
16	chr11:85861400-85863400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:85861400-85863800	Enhancers	Fetal Muscle Leg	muscle
18	chr11:85861400-85863800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:85861400-85865200	Enhancers	Liver	Liver
20	chr11:85861600-85863400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:85861600-85863400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr11:85861600-85864200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:85861600-85864200	Enhancers	Rectal Smooth Muscle	rectum
24	chr11:85861600-85864400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:85861800-85863400	Flanking Active TSS	K562	blood
26	chr11:85861800-85863600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr11:85861800-85863600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr11:85861800-85863600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:85861800-85863600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:85861800-85863600	Enhancers	NHDF-Ad	bronchial
31	chr11:85861800-85863800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:85861800-85863800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:85861800-85863800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:85861800-85863800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:85861800-85864000	Enhancers	Adipose Nuclei	Adipose
36	chr11:85861800-85864800	Enhancers	Duodenum Mucosa	Duodenum
37	chr11:85861800-85865200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:85862000-85863200	Enhancers	Colonic Mucosa	Colon
39	chr11:85862000-85863200	Enhancers	Esophagus	oesophagus
40	chr11:85862000-85863200	Flanking Active TSS	NHEK	skin
41	chr11:85862000-85863400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:85862000-85863400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:85862000-85863400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr11:85862000-85863600	Enhancers	Fetal Heart	heart
45	chr11:85862000-85863600	Enhancers	Fetal Thymus	thymus
46	chr11:85862000-85863600	Enhancers	Left Ventricle	heart
47	chr11:85862000-85863600	Enhancers	Right Ventricle	heart
48	chr11:85862000-85863800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:85862000-85863800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:85862000-85863800	Enhancers	Primary T cells fromperipheralblood	blood

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