Variant report

Variant	rs12282509
Chromosome Location	chr11:102216998-102216999
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	SMC3	chr11:102216645-102217137	GM12878	blood:	n/a	n/a
2	BCL11A	chr11:102216635-102217015	GM12878	blood:	n/a	chr11:102216809-102216818
3	FOS	chr11:102216479-102217645	MCF10A-Er-Src	breast:	n/a	n/a
4	GABPA	chr11:102216574-102217008	SK-N-SH	brain:	n/a	n/a
5	RELA	chr11:102216487-102217074	GM12891	blood:	n/a	chr11:102216809-102216818 chr11:102216809-102216818
6	RELA	chr11:102216508-102217069	GM18951	blood:	n/a	chr11:102216809-102216818 chr11:102216809-102216818
7	POLR2A	chr11:102216567-102217021	U87	brain:	n/a	n/a
8	NFATC1	chr11:102216358-102217054	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:102216423-102218393	HUVEC	blood vessel:	n/a	n/a
10	FOSL2	chr11:102216466-102217068	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr11:102216568-102217071	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr11:102216663-102219212	GM12878	blood:	n/a	n/a
13	STAT3	chr11:102216404-102217065	MCF10A-Er-Src	breast:	n/a	n/a
14	MXI1	chr11:102216598-102217045	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:102216411-102219117	MCF10A-Er-Src	breast:	n/a	n/a
16	TBL1XR1	chr11:102216455-102218746	GM12878	blood:	n/a	n/a
17	TBP	chr11:102216637-102218363	K562	blood:	n/a	n/a
18	CHD1	chr11:102216324-102220503	IMR90	lung:	n/a	n/a
19	RELA	chr11:102216446-102218119	GM19193	blood:	n/a	chr11:102216809-102216818 chr11:102216809-102216818
20	STAT5A	chr11:102216455-102218438	GM12878	blood:	n/a	chr11:102217377-102217388
21	CHD2	chr11:102216666-102217036	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:102216596-102219126	GM19193	blood:	n/a	n/a
23	NFIC	chr11:102216246-102219013	GM12878	blood:	n/a	n/a
24	EBF1	chr11:102216602-102217092	GM12878	blood:	n/a	chr11:102216879-102216888 chr11:102216878-102216888
25	TEAD4	chr11:102216474-102217035	HepG2	liver:	n/a	n/a
26	NFATC1	chr11:102216368-102217039	GM12878	blood:	n/a	n/a
27	RELA	chr11:102216542-102217016	GM18526	blood:	n/a	chr11:102216809-102216818 chr11:102216809-102216818
28	STAT3	chr11:102216392-102218034	MCF10A-Er-Src	breast:	n/a	chr11:102217377-102217388
29	MAFF	chr11:102216739-102217051	K562	blood:	n/a	n/a
30	EP300	chr11:102216488-102218163	GM12878	blood:	n/a	chr11:102217442-102217452 chr11:102216771-102216778 chr11:102216778-102216792
31	TEAD4	chr11:102216490-102217096	SK-N-SH	brain:	n/a	n/a
32	BCLAF1	chr11:102216501-102218160	GM12878	blood:	n/a	chr11:102216809-102216818 chr11:102217970-102217979
33	MAZ	chr11:102216395-102218729	IMR90	lung:	n/a	chr11:102217767-102217778 chr11:102218136-102218145
34	TCF12	chr11:102216417-102217100	SK-N-SH	brain:	n/a	n/a
35	SP1	chr11:102216525-102217083	GM12878	blood:	n/a	n/a
36	FOS	chr11:102216539-102218135	HUVEC	blood vessel:	n/a	chr11:102217937-102217946 chr11:102218106-102218117 chr11:102218105-102218113
37	POLR2A	chr11:102216740-102218512	ProgFib	skin:	n/a	n/a
38	POLR2A	chr11:102216630-102219427	PBDE	blood:	n/a	n/a
39	ATF2	chr11:102216293-102217128	GM12878	blood:	n/a	n/a
40	MAFK	chr11:102216753-102217959	K562	blood:	n/a	chr11:102217933-102217950
41	EBF1	chr11:102216557-102217015	GM12878	blood:	n/a	chr11:102216879-102216888 chr11:102216878-102216888
42	RUNX3	chr11:102216527-102217099	GM12878	blood:	n/a	n/a
43	CHD1	chr11:102216702-102219105	GM12878	blood:	n/a	n/a
44	EP300	chr11:102216199-102218422	GM12878	blood:	n/a	chr11:102217442-102217452 chr11:102216771-102216778 chr11:102216486-102216500 chr11:102216778-102216792
45	POLR2A	chr11:102216712-102217131	GM12892	blood:	n/a	n/a
46	NFIC	chr11:102216338-102217144	GM12878	blood:	n/a	n/a
47	EP300	chr11:102216378-102217141	K562	blood:	n/a	chr11:102216771-102216778 chr11:102216486-102216500 chr11:102216778-102216792
48	EP300	chr11:102216440-102218286	SK-N-SH	brain:	n/a	chr11:102217442-102217452 chr11:102216771-102216778 chr11:102216486-102216500 chr11:102216778-102216792
49	JUND	chr11:102216544-102219211	SK-N-SH	brain:	n/a	chr11:102217937-102217946 chr11:102218106-102218117 chr11:102218105-102218113
50	POLR2A	chr11:102216633-102218357	K562	blood:	n/a	n/a

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
ENSG00000152558	Chromatin interaction
ENSG00000255337	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10082693	1.00[YRI][hapmap]
rs11225216	1.00[AMR][1000 genomes]
rs11225217	1.00[YRI][hapmap]
rs11225228	1.00[YRI][hapmap]
rs11225246	1.00[YRI][hapmap]
rs11604189	1.00[YRI][hapmap]
rs12270723	1.00[YRI][hapmap]
rs12270893	1.00[YRI][hapmap]
rs12275349	1.00[YRI][hapmap]
rs12275676	1.00[AMR][1000 genomes]
rs12278619	1.00[YRI][hapmap]
rs12281328	1.00[YRI][hapmap]
rs12283923	1.00[YRI][hapmap]
rs12284238	1.00[ASW][hapmap]
rs12288938	1.00[YRI][hapmap]
rs12290870	1.00[YRI][hapmap]
rs12291114	1.00[YRI][hapmap]
rs12291210	1.00[YRI][hapmap]
rs12291456	1.00[YRI][hapmap]
rs12293834	1.00[YRI][hapmap]
rs12294170	1.00[YRI][hapmap]
rs12792649	1.00[YRI][hapmap]
rs13377312	1.00[YRI][hapmap]
rs9971623	1.00[YRI][hapmap]

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	chr11:102216400-102217000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:102216400-102217000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr11:102216400-102217000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:102216400-102217200	Flanking Active TSS	HUVEC	blood vessel
13	chr11:102216400-102217400	Flanking Active TSS	NH-A	brain
14	chr11:102216400-102218800	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr11:102216400-102219200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:102216400-102219600	Active TSS	K562	blood
17	chr11:102216400-102219600	Active TSS	NHLF	lung
18	chr11:102216600-102217000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:102216600-102217000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:102216600-102217000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr11:102216600-102217000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:102216600-102217000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr11:102216600-102217000	Enhancers	Primary hematopoietic stem cells	blood
24	chr11:102216600-102217000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:102216600-102217000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:102216600-102217000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:102216600-102217000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr11:102216600-102217000	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr11:102216600-102217000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:102216600-102217000	Enhancers	Fetal Heart	heart
31	chr11:102216600-102217000	Flanking Active TSS	Fetal Kidney	kidney
32	chr11:102216600-102217000	Flanking Active TSS	Fetal Thymus	thymus
33	chr11:102216600-102217000	Flanking Active TSS	Thymus	Thymus
34	chr11:102216600-102217000	Flanking Active TSS	GM12878-XiMat	blood
35	chr11:102216600-102217200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr11:102216600-102217200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:102216600-102217200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:102216600-102217200	Enhancers	Primary B cells from peripheral blood	blood
39	chr11:102216600-102217200	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr11:102216600-102217200	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr11:102216600-102217200	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr11:102216600-102217200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr11:102216600-102217200	Flanking Active TSS	Fetal Lung	lung
44	chr11:102216600-102217200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr11:102216600-102217200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr11:102216600-102217200	Flanking Active TSS	Hela-S3	cervix
47	chr11:102216600-102217200	Active TSS	HepG2	liver
48	chr11:102216600-102217400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:102216600-102217400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:102216600-102217400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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