Variant report

Variant	rs11206834
Chromosome Location	chr1:56982196-56982197
allele	C/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	GATA2	chr1:56982012-56982474	K562	blood:	n/a	chr1:56982246-56982255 chr1:56982245-56982255 chr1:56982241-56982255
2	POLR2A	chr1:56981456-56985428	PFSK-1	brain:	n/a	n/a
3	MAZ	chr1:56982140-56982985	GM12878	blood:	n/a	n/a
4	WRNIP1	chr1:56982176-56982930	GM12878	blood:	n/a	n/a
5	BACH1	chr1:56982190-56982915	K562	blood:	n/a	n/a
6	EP300	chr1:56982072-56982921	GM12878	blood:	n/a	chr1:56982453-56982467 chr1:56982483-56982497 chr1:56982452-56982466 chr1:56982256-56982270 chr1:56982454-56982468
7	JUN	chr1:56982047-56982975	K562	blood:	n/a	chr1:56982080-56982093 chr1:56982084-56982093 chr1:56982703-56982712
8	JUND	chr1:56981913-56982260	HepG2	liver:	n/a	chr1:56982084-56982093
9	EP300	chr1:56982177-56982934	GM12878	blood:	n/a	chr1:56982453-56982467 chr1:56982483-56982497 chr1:56982452-56982466 chr1:56982256-56982270 chr1:56982454-56982468
10	CCNT2	chr1:56981309-56982433	K562	blood:	n/a	n/a
11	EBF1	chr1:56981965-56982982	GM12878	blood:	n/a	chr1:56982800-56982811
12	JUN	chr1:56982023-56982862	K562	blood:	n/a	chr1:56982080-56982093 chr1:56982084-56982093 chr1:56982703-56982712
13	TEAD4	chr1:56982010-56982413	K562	blood:	n/a	n/a
14	ELF1	chr1:56982118-56982440	K562	blood:	n/a	chr1:56982260-56982271 chr1:56982258-56982271
15	MAFF	chr1:56982103-56982920	K562	blood:	n/a	n/a
16	CHD1	chr1:56982011-56982932	GM12878	blood:	n/a	n/a
17	ATF3	chr1:56982006-56982414	K562	blood:	n/a	chr1:56982082-56982095 chr1:56982081-56982096
18	SPI1	chr1:56981889-56982691	GM12878	blood:	n/a	chr1:56982258-56982271 chr1:56982260-56982269
19	TEAD4	chr1:56981935-56982927	K562	blood:	n/a	n/a
20	CEBPB	chr1:56981570-56982895	K562	blood:	n/a	chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981776 chr1:56981765-56981776 chr1:56981765-56981778 chr1:56981767-56981776 chr1:56981767-56981778 chr1:56981767-56981776
21	ELF1	chr1:56982024-56982376	K562	blood:	n/a	chr1:56982260-56982271 chr1:56982258-56982271
22	MAZ	chr1:56981999-56983190	K562	blood:	n/a	n/a
23	MXI1	chr1:56982133-56982765	GM12878	blood:	n/a	chr1:56982350-56982365
24	BCLAF1	chr1:56982046-56982813	GM12878	blood:	n/a	chr1:56982256-56982265
25	POLR2A	chr1:56980412-56984262	HepG2	liver:	n/a	n/a
26	IKZF1	chr1:56982006-56983011	GM12878	blood:	n/a	n/a
27	BHLHE40	chr1:56981787-56983667	K562	blood:	n/a	n/a
28	NR2F2	chr1:56981868-56982989	K562	blood:	n/a	chr1:56982211-56982226
29	UBTF	chr1:56982115-56982833	K562	blood:	n/a	n/a
30	ZNF143	chr1:56982008-56983735	K562	blood:	n/a	chr1:56983633-56983651
31	JUND	chr1:56981492-56983814	K562	blood:	n/a	chr1:56983596-56983608 chr1:56982084-56982093 chr1:56983597-56983607 chr1:56982703-56982712 chr1:56983598-56983606 chr1:56983597-56983607
32	POLR2A	chr1:56982037-56982400	K562	blood:	n/a	n/a
33	SPI1	chr1:56981975-56982408	GM12891	blood:	n/a	chr1:56982258-56982271 chr1:56982260-56982269
34	TBP	chr1:56982042-56982908	K562	blood:	n/a	n/a
35	JUN	chr1:56981973-56982237	HepG2	liver:	n/a	chr1:56982080-56982093 chr1:56982084-56982093
36	NR2F2	chr1:56981979-56982842	K562	blood:	n/a	chr1:56982211-56982226
37	SMC3	chr1:56982029-56982890	GM12878	blood:	n/a	n/a
38	MAFK	chr1:56982048-56983892	K562	blood:	n/a	chr1:56982464-56982478 chr1:56982465-56982476 chr1:56982465-56982481 chr1:56982466-56982477 chr1:56982465-56982476 chr1:56982465-56982480 chr1:56982466-56982477
39	CHD2	chr1:56982151-56982953	GM12878	blood:	n/a	n/a
40	EP300	chr1:56981640-56983854	K562	blood:	n/a	chr1:56982453-56982467 chr1:56982483-56982497 chr1:56982452-56982466 chr1:56982923-56982937 chr1:56982256-56982270 chr1:56982454-56982468
41	CEBPB	chr1:56982085-56982910	K562	blood:	n/a	n/a
42	SPI1	chr1:56982177-56982361	GM12878	blood:	n/a	chr1:56982258-56982271 chr1:56982260-56982269
43	RUNX3	chr1:56982078-56982940	GM12878	blood:	n/a	n/a
44	NFYB	chr1:56982167-56982358	GM12878	blood:	n/a	n/a
45	EP300	chr1:56982171-56982901	GM12878	blood:	n/a	chr1:56982453-56982467 chr1:56982483-56982497 chr1:56982452-56982466 chr1:56982256-56982270 chr1:56982454-56982468
46	TBL1XR1	chr1:56981729-56983107	K562	blood:	n/a	n/a
47	RCOR1	chr1:56982110-56982733	K562	blood:	n/a	n/a
48	SPI1	chr1:56981935-56982559	HL-60	blood:	n/a	chr1:56982258-56982271 chr1:56982260-56982269
49	GATA3	chr1:56981379-56982342	MCF-7	breast:	n/a	chr1:56981798-56981805 chr1:56982246-56982255 chr1:56982245-56982255
50	SPI1	chr1:56982010-56982474	GM12891	blood:	n/a	chr1:56982258-56982271 chr1:56982260-56982269

Variant related genes	Relation type
PPAP2B	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10443239	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789026	0.88[ASN][1000 genomes]
rs10888978	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11206835	0.88[ASN][1000 genomes]
rs11582172	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12402226	0.88[ASN][1000 genomes]
rs1572057	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2404717	1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738570	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3927762	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs869934	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56971400-56986200	Genic enhancers	Placenta	Placenta
3	chr1:56972400-56990800	Strong transcription	HSMM	muscle
4	chr1:56974600-56982400	Strong transcription	Osteobl	bone
5	chr1:56976000-56982600	Genic enhancers	Liver	Liver
6	chr1:56976200-56982600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:56976400-56982200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:56976400-56991600	Strong transcription	Fetal Stomach	stomach
9	chr1:56976800-56992400	Weak transcription	Brain Germinal Matrix	brain
10	chr1:56977200-56982200	Weak transcription	Fetal Heart	heart
11	chr1:56977200-56982400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:56977200-56987200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:56977200-56990600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:56977400-56982400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:56977600-56983600	Strong transcription	NHLF	lung
16	chr1:56977800-56982400	Weak transcription	NH-A	brain
17	chr1:56977800-56983200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:56977800-56989200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:56977800-56991200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:56977800-56999200	Weak transcription	A549	lung
21	chr1:56978000-56982400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:56978000-56982400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:56978000-56987200	Weak transcription	Thymus	Thymus
24	chr1:56978000-56987600	Weak transcription	Dnd41	blood
25	chr1:56978000-56987800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:56978000-56989200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:56978000-56991400	Weak transcription	Fetal Brain Male	brain
28	chr1:56978000-56992600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:56979200-56984800	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:56979200-56984800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:56979200-56992600	Strong transcription	HepG2	liver
32	chr1:56979800-56982400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:56979800-56986200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:56980000-56983200	Enhancers	Right Atrium	heart
35	chr1:56980000-56984200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:56980000-56984200	Enhancers	Spleen	Spleen
37	chr1:56980200-56983800	Genic enhancers	Fetal Intestine Large	intestine
38	chr1:56980400-56982400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:56980400-56983600	Enhancers	Stomach Mucosa	stomach
40	chr1:56980400-56984200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:56980400-56984200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr1:56980400-56984200	Enhancers	Psoas Muscle	Psoas
43	chr1:56980400-56986200	Genic enhancers	NHDF-Ad	bronchial
44	chr1:56980600-56982800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr1:56980600-56983000	Enhancers	Brain Substantia Nigra	brain
46	chr1:56980600-56983000	Genic enhancers	Fetal Muscle Leg	muscle
47	chr1:56980600-56983400	Enhancers	Brain Anterior Caudate	brain
48	chr1:56980600-56984000	Enhancers	Brain Hippocampus Middle	brain
49	chr1:56980600-56984200	Enhancers	Pancreas	Pancrea
50	chr1:56980600-56986200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell

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