Variant report

Variant	rs12278022
Chromosome Location	chr11:102217121-102217122
allele	C/T
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	SMC3	chr11:102216645-102217137	GM12878	blood:	n/a	n/a
2	FOS	chr11:102216479-102217645	MCF10A-Er-Src	breast:	n/a	n/a
3	IRF1	chr11:102217099-102218177	K562	blood:	n/a	chr11:102217864-102217884 chr11:102217377-102217388 chr11:102217376-102217389 chr11:102217377-102217389 chr11:102217295-102217307 chr11:102217377-102217390 chr11:102217860-102217877 chr11:102217295-102217307 chr11:102217376-102217390 chr11:102217377-102217390 chr11:102217377-102217391 chr11:102217377-102217389 chr11:102217375-102217389
4	POLR2A	chr11:102216423-102218393	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr11:102216663-102219212	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:102216411-102219117	MCF10A-Er-Src	breast:	n/a	n/a
7	TBL1XR1	chr11:102216455-102218746	GM12878	blood:	n/a	n/a
8	TBP	chr11:102216637-102218363	K562	blood:	n/a	n/a
9	CHD1	chr11:102216324-102220503	IMR90	lung:	n/a	n/a
10	RELA	chr11:102216446-102218119	GM19193	blood:	n/a	chr11:102216809-102216818 chr11:102216809-102216818
11	STAT5A	chr11:102216455-102218438	GM12878	blood:	n/a	chr11:102217377-102217388
12	POLR2A	chr11:102216596-102219126	GM19193	blood:	n/a	n/a
13	NFIC	chr11:102216246-102219013	GM12878	blood:	n/a	n/a
14	STAT3	chr11:102216392-102218034	MCF10A-Er-Src	breast:	n/a	chr11:102217377-102217388
15	EP300	chr11:102216488-102218163	GM12878	blood:	n/a	chr11:102217442-102217452 chr11:102216771-102216778 chr11:102216778-102216792
16	BCLAF1	chr11:102216501-102218160	GM12878	blood:	n/a	chr11:102216809-102216818 chr11:102217970-102217979
17	MAZ	chr11:102216395-102218729	IMR90	lung:	n/a	chr11:102217767-102217778 chr11:102218136-102218145
18	FOS	chr11:102216539-102218135	HUVEC	blood vessel:	n/a	chr11:102217937-102217946 chr11:102218106-102218117 chr11:102218105-102218113
19	POLR2A	chr11:102216740-102218512	ProgFib	skin:	n/a	n/a
20	POLR2A	chr11:102216630-102219427	PBDE	blood:	n/a	n/a
21	ATF2	chr11:102216293-102217128	GM12878	blood:	n/a	n/a
22	MAFK	chr11:102216753-102217959	K562	blood:	n/a	chr11:102217933-102217950
23	CHD1	chr11:102216702-102219105	GM12878	blood:	n/a	n/a
24	EP300	chr11:102216199-102218422	GM12878	blood:	n/a	chr11:102217442-102217452 chr11:102216771-102216778 chr11:102216486-102216500 chr11:102216778-102216792
25	MAFF	chr11:102217025-102217904	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:102216712-102217131	GM12892	blood:	n/a	n/a
27	NFIC	chr11:102216338-102217144	GM12878	blood:	n/a	n/a
28	EP300	chr11:102216378-102217141	K562	blood:	n/a	chr11:102216771-102216778 chr11:102216486-102216500 chr11:102216778-102216792
29	EP300	chr11:102216440-102218286	SK-N-SH	brain:	n/a	chr11:102217442-102217452 chr11:102216771-102216778 chr11:102216486-102216500 chr11:102216778-102216792
30	JUND	chr11:102216544-102219211	SK-N-SH	brain:	n/a	chr11:102217937-102217946 chr11:102218106-102218117 chr11:102218105-102218113
31	POLR2A	chr11:102216633-102218357	K562	blood:	n/a	n/a
32	RELA	chr11:102216431-102217985	GM12878	blood:	n/a	chr11:102216809-102216818 chr11:102216809-102216818
33	POLR2A	chr11:102216595-102219130	GM12891	blood:	n/a	n/a
34	POLR2A	chr11:102216621-102219177	GM12878	blood:	n/a	n/a
35	TCF7L2	chr11:102216688-102217161	PANC-1	pancreas:	n/a	n/a
36	EBF1	chr11:102216444-102218122	GM12878	blood:	n/a	chr11:102216879-102216888 chr11:102217753-102217763 chr11:102216878-102216888 chr11:102217752-102217763
37	GATA3	chr11:102216502-102217164	SK-N-SH	brain:	n/a	chr11:102216780-102216790
38	BHLHE40	chr11:102216585-102217132	GM12878	blood:	n/a	n/a
39	MAFK	chr11:102217018-102217952	HepG2	liver:	n/a	chr11:102217933-102217950
40	CTCF	chr11:102216916-102218682	A549	lung:	n/a	n/a
41	TEAD4	chr11:102216525-102217147	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr11:102216486-102219142	MCF10A-Er-Src	breast:	n/a	n/a
43	FOXM1	chr11:102216348-102218666	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:102216521-102218401	U87	brain:	n/a	n/a
45	POLR2A	chr11:102216634-102218338	GM12892	blood:	n/a	n/a
46	POLR2A	chr11:102217120-102218180	HepG2	liver:	n/a	n/a
47	UBTF	chr11:102216754-102218311	K562	blood:	n/a	n/a
48	POLR2A	chr11:102216419-102218653	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr11:102216644-102219211	GM12892	blood:	n/a	n/a
50	JUN	chr11:102216330-102219183	K562	blood:	n/a	chr11:102217937-102217946 chr11:102218106-102218117 chr11:102218105-102218113 chr11:102217933-102217946

No.	Distal block	Cell Line	Cell type
1	chr11:102215215..102219130-chr11:102321135..102324493,6	K562	blood:
2	chr11:102216212..102220028-chr11:102319803..102324997,8	K562	blood:
3	chr11:102191111..102193530-chr11:102215837..102217502,2	MCF-7	breast:
4	chr11:102215581..102217934-chr11:102261718..102263770,2	K562	blood:

Variant related genes	Relation type
BIRC2	TF binding region
ENSG00000255337	Chromatin interaction
ENSG00000152558	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11225220	1.00[AMR][1000 genomes]
rs12278300	1.00[AMR][1000 genomes]
rs12285558	1.00[AMR][1000 genomes]
rs12291368	1.00[AMR][1000 genomes]
rs17098271	1.00[AMR][1000 genomes]
rs28480648	1.00[AMR][1000 genomes]
rs28485979	1.00[AMR][1000 genomes]
rs7952037	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers 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 target site	13 gene(s)	inside rSNPs	diseases
7	esv3384244	chr11:102195350-102220898	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1839485	chr11:102207851-102220279	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102191200-102217400	Weak transcription	Esophagus	oesophagus
2	chr11:102198400-102217400	Weak transcription	Gastric	stomach
3	chr11:102203600-102217400	Weak transcription	Spleen	Spleen
4	chr11:102209400-102217400	Weak transcription	Lung	lung
5	chr11:102209800-102217200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:102213000-102217200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:102215600-102217400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:102216200-102219600	Active TSS	A549	lung
9	chr11:102216400-102217200	Flanking Active TSS	HUVEC	blood vessel
10	chr11:102216400-102217400	Flanking Active TSS	NH-A	brain
11	chr11:102216400-102218800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:102216400-102219200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:102216400-102219600	Active TSS	K562	blood
14	chr11:102216400-102219600	Active TSS	NHLF	lung
15	chr11:102216600-102217200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:102216600-102217200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:102216600-102217200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:102216600-102217200	Enhancers	Primary B cells from peripheral blood	blood
19	chr11:102216600-102217200	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr11:102216600-102217200	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr11:102216600-102217200	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr11:102216600-102217200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr11:102216600-102217200	Flanking Active TSS	Fetal Lung	lung
24	chr11:102216600-102217200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr11:102216600-102217200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr11:102216600-102217200	Flanking Active TSS	Hela-S3	cervix
27	chr11:102216600-102217200	Active TSS	HepG2	liver
28	chr11:102216600-102217400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:102216600-102217400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:102216600-102217400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:102216600-102217400	Flanking Active TSS	Dnd41	blood
32	chr11:102216600-102217600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr11:102216600-102217800	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr11:102216600-102218600	Active TSS	Brain Angular Gyrus	brain
35	chr11:102216600-102219200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:102216600-102219200	Active TSS	Colonic Mucosa	Colon
37	chr11:102216600-102219200	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr11:102216600-102219400	Active TSS	Stomach Smooth Muscle	stomach
39	chr11:102216600-102219600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:102216600-102219600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:102216600-102219800	Active TSS	NHDF-Ad	bronchial
42	chr11:102216600-102220000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:102216600-102220200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:102216600-102220600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr11:102216800-102217200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr11:102216800-102217200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:102216800-102217200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:102216800-102217200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr11:102216800-102217200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:102216800-102217200	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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