Variant report

Variant	rs73652847
Chromosome Location	chr9:22044786-22044787
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	POLR2A	chr9:22044578-22044988	HUVEC	blood vessel:	n/a	n/a
2	FOSL2	chr9:22044481-22044997	SK-N-SH	brain:	n/a	chr9:22044771-22044781 chr9:22044772-22044780 chr9:22044771-22044781 chr9:22044770-22044782 chr9:22044775-22044787
3	MAX	chr9:22044587-22044982	SK-N-SH	brain:	n/a	chr9:22044771-22044780
4	JUN	chr9:22044601-22044947	HUVEC	blood vessel:	n/a	chr9:22044771-22044781 chr9:22044772-22044780 chr9:22044771-22044781 chr9:22044770-22044782 chr9:22044775-22044787
5	JUND	chr9:22044407-22045085	SK-N-SH	brain:	n/a	chr9:22044771-22044781 chr9:22044772-22044780 chr9:22044771-22044781 chr9:22044770-22044782 chr9:22044775-22044787
6	EP300	chr9:22044579-22044894	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr9:22044429-22045162	SK-N-SH	brain:	n/a	n/a
8	EP300	chr9:22044509-22045015	SK-N-SH	brain:	n/a	n/a
9	NFIC	chr9:22044514-22044963	SK-N-SH	brain:	n/a	n/a
10	TCF12	chr9:22044362-22045181	SK-N-SH	brain:	n/a	n/a
11	RAD21	chr9:22044605-22044862	SK-N-SH_RA	brain:	n/a	n/a
12	MAFK	chr9:22044625-22045038	IMR90	lung:	n/a	n/a
13	NFIC	chr9:22044413-22045100	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr9:22044377-22045051	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr9:22044504-22045154	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr9:22044514-22044928	SK-N-SH	brain:	n/a	n/a
17	GATA2	chr9:22044492-22044883	HUVEC	blood vessel:	n/a	n/a
18	RXRA	chr9:22044442-22045065	SK-N-SH	brain:	n/a	n/a
19	TEAD4	chr9:22044430-22044997	SK-N-SH	brain:	n/a	n/a
20	MEF2A	chr9:22044463-22044988	SK-N-SH	brain:	n/a	chr9:22044772-22044780
21	EP300	chr9:22044540-22044877	SK-N-SH_RA	brain:	n/a	n/a
22	PBX3	chr9:22044423-22044997	SK-N-SH	brain:	n/a	n/a
23	TCF12	chr9:22044340-22045165	SK-N-SH	brain:	n/a	n/a
24	JUND	chr9:22044388-22045078	SK-N-SH	brain:	n/a	chr9:22044771-22044781 chr9:22044772-22044780 chr9:22044771-22044781 chr9:22044770-22044782 chr9:22044775-22044787
25	FOS	chr9:22044170-22045000	HUVEC	blood vessel:	n/a	chr9:22044771-22044781 chr9:22044772-22044780 chr9:22044771-22044781 chr9:22044770-22044782 chr9:22044775-22044787 chr9:22044770-22044781
26	YY1	chr9:22044585-22044928	SK-N-SH	brain:	n/a	n/a
27	ZBTB33	chr9:22044581-22044921	SK-N-SH	brain:	n/a	n/a
28	MAFK	chr9:22044735-22045004	HepG2	liver:	n/a	n/a
29	TEAD4	chr9:22044445-22044883	SK-N-SH	brain:	n/a	n/a
30	FOSL2	chr9:22044563-22044986	SK-N-SH	brain:	n/a	chr9:22044771-22044781 chr9:22044772-22044780 chr9:22044771-22044781 chr9:22044770-22044782 chr9:22044775-22044787
31	PBX3	chr9:22044422-22044945	SK-N-SH	brain:	n/a	n/a
32	REST	chr9:22044590-22044846	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:22007719..22013279-chr9:22036472..22044819,13	MCF-7	breast:

Variant related genes	Relation type
CDKN2B-AS1	TF binding region
ENSG00000147883	Chromatin interaction
ENSG00000215221	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16905597	0.87[AFR][1000 genomes]
rs16935753	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2069420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2151279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3217980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3217990	1.00[EUR][1000 genomes]
rs3217994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3217997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3217999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3218003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3218021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3218022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3218023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731205	1.00[EUR][1000 genomes]
rs56235436	0.83[AMR][1000 genomes]
rs60693449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61564778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73650003	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652824	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652841	0.83[AMR][1000 genomes]
rs73652842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652843	1.00[EUR][1000 genomes]
rs73652845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1018514	chr9:21944275-22075326	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv892747	chr9:21984661-22068646	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22040200-22046000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:22041000-22045600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr9:22041000-22046400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr9:22042000-22048000	Weak transcription	Adipose Nuclei	Adipose
5	chr9:22042200-22044800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:22042200-22046600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr9:22042400-22049200	Weak transcription	Hela-S3	cervix
8	chr9:22042600-22049200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:22042600-22052600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:22042800-22046000	Weak transcription	Fetal Intestine Small	intestine
11	chr9:22042800-22046200	Weak transcription	Fetal Intestine Large	intestine
12	chr9:22042800-22049400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:22042800-22052600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:22043800-22045800	Enhancers	NH-A	brain
15	chr9:22044000-22045000	Enhancers	HMEC	breast
16	chr9:22044000-22045000	Enhancers	NHDF-Ad	bronchial
17	chr9:22044000-22045200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:22044000-22045200	Enhancers	Osteobl	bone
19	chr9:22044000-22045800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:22044000-22045800	Enhancers	Dnd41	blood
21	chr9:22044000-22046000	Enhancers	HUVEC	blood vessel
22	chr9:22044000-22046200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:22044200-22045600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr9:22044200-22045600	Enhancers	NHEK	skin
25	chr9:22044200-22046000	Enhancers	HSMM	muscle
26	chr9:22044400-22045000	Enhancers	NHLF	lung
27	chr9:22044600-22044800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr9:22044600-22045600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr9:22044600-22045600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:22044600-22049200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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