Variant report

Variant	rs2202683
Chromosome Location	chr1:212873074-212873075
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	chr1:212872290-212874139	GM18505	blood:	n/a	n/a
2	MXI1	chr1:212872283-212874137	GM12878	blood:	n/a	chr1:212873444-212873453
3	BHLHE40	chr1:212872324-212874972	GM12878	blood:	n/a	chr1:212873287-212873303 chr1:212874387-212874396
4	MAX	chr1:212872288-212873571	K562	blood:	n/a	chr1:212873445-212873454 chr1:212873323-212873333 chr1:212872700-212872711 chr1:212872702-212872709 chr1:212873225-212873235 chr1:212872701-212872710 chr1:212873443-212873451 chr1:212873444-212873455 chr1:212873445-212873454 chr1:212872699-212872714 chr1:212873444-212873455 chr1:212872700-212872710 chr1:212873445-212873454
5	MAX	chr1:212872192-212873716	ECC-1	luminal epithelium:	n/a	chr1:212873445-212873454 chr1:212873323-212873333 chr1:212872700-212872711 chr1:212872702-212872709 chr1:212873225-212873235 chr1:212872701-212872710 chr1:212873443-212873451 chr1:212873444-212873455 chr1:212873445-212873454 chr1:212872699-212872714 chr1:212873444-212873455 chr1:212872700-212872710 chr1:212873445-212873454
6	E2F6	chr1:212872202-212874716	A549	lung:	n/a	chr1:212874470-212874477 chr1:212873219-212873229 chr1:212873421-212873431 chr1:212874470-212874477 chr1:212873224-212873233 chr1:212873180-212873190 chr1:212874470-212874477
7	CTCF	chr1:212872120-212873181	K562	blood:	n/a	chr1:212872514-212872527 chr1:212872605-212872614 chr1:212872514-212872532 chr1:212872517-212872530 chr1:212872765-212872778 chr1:212872762-212872780
8	MYC	chr1:212871994-212874245	A549	lung:	n/a	chr1:212873445-212873454 chr1:212873323-212873333 chr1:212872700-212872711 chr1:212872702-212872709 chr1:212873225-212873235 chr1:212872701-212872710 chr1:212873986-212873995 chr1:212873986-212873995 chr1:212873986-212873995 chr1:212873443-212873451 chr1:212873444-212873455 chr1:212873445-212873454 chr1:212872699-212872714 chr1:212873444-212873455 chr1:212872700-212872710 chr1:212873445-212873454
9	MAX	chr1:212872207-212875186	NB4	blood:	n/a	chr1:212873445-212873454 chr1:212873323-212873333 chr1:212872700-212872711 chr1:212872702-212872709 chr1:212873225-212873235 chr1:212874385-212874396 chr1:212872701-212872710 chr1:212873986-212873995 chr1:212873986-212873995 chr1:212873986-212873995 chr1:212873443-212873451 chr1:212874394-212874404 chr1:212873444-212873455 chr1:212873445-212873454 chr1:212872699-212872714 chr1:212873444-212873455 chr1:212872700-212872710 chr1:212873445-212873454
10	MAX	chr1:212872526-212873389	Hela-S3	cervix:	n/a	chr1:212873323-212873333 chr1:212872700-212872711 chr1:212872702-212872709 chr1:212873225-212873235 chr1:212872701-212872710 chr1:212872699-212872714 chr1:212872700-212872710
11	MAX	chr1:212872227-212873605	HepG2	liver:	n/a	chr1:212873445-212873454 chr1:212873323-212873333 chr1:212872700-212872711 chr1:212872702-212872709 chr1:212873225-212873235 chr1:212872701-212872710 chr1:212873443-212873451 chr1:212873444-212873455 chr1:212873445-212873454 chr1:212872699-212872714 chr1:212873444-212873455 chr1:212872700-212872710 chr1:212873445-212873454
12	MAX	chr1:212872058-212873687	H1-hESC	embryonic stem cell:	n/a	chr1:212873445-212873454 chr1:212873323-212873333 chr1:212872700-212872711 chr1:212872702-212872709 chr1:212873225-212873235 chr1:212872701-212872710 chr1:212873443-212873451 chr1:212873444-212873455 chr1:212873445-212873454 chr1:212872699-212872714 chr1:212873444-212873455 chr1:212872700-212872710 chr1:212873445-212873454
13	CCNT2	chr1:212872522-212873305	K562	blood:	n/a	chr1:212873224-212873233
14	JUND	chr1:212872355-212873113	A549	lung:	n/a	n/a
15	POLR2A	chr1:212872274-212874715	GM19193	blood:	n/a	n/a
16	E2F6	chr1:212872879-212873604	K562	blood:	n/a	chr1:212873219-212873229 chr1:212873421-212873431 chr1:212873224-212873233 chr1:212873180-212873190
17	BACH1	chr1:212872523-212874997	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr1:212872306-212873196	K562	blood:	n/a	n/a
19	CEBPB	chr1:212872960-212873169	IMR90	lung:	n/a	n/a
20	YY1	chr1:212872548-212873184	ECC-1	luminal epithelium:	n/a	n/a
21	TCF7L2	chr1:212872270-212873225	HCT-116	colon:	n/a	n/a
22	POLR2A	chr1:212872235-212874091	GM12892	blood:	n/a	n/a
23	CEBPB	chr1:212872775-212873286	A549	lung:	n/a	n/a
24	CEBPB	chr1:212872957-212873189	A549	lung:	n/a	n/a
25	E2F6	chr1:212872021-212873826	H1-hESC	embryonic stem cell:	n/a	chr1:212873219-212873229 chr1:212873421-212873431 chr1:212873224-212873233 chr1:212873180-212873190
26	FOXM1	chr1:212872449-212873080	GM12878	blood:	n/a	n/a
27	MAX	chr1:212872184-212874186	K562	blood:	n/a	chr1:212873445-212873454 chr1:212873323-212873333 chr1:212872700-212872711 chr1:212872702-212872709 chr1:212873225-212873235 chr1:212872701-212872710 chr1:212873986-212873995 chr1:212873986-212873995 chr1:212873986-212873995 chr1:212873443-212873451 chr1:212873444-212873455 chr1:212873445-212873454 chr1:212872699-212872714 chr1:212873444-212873455 chr1:212872700-212872710 chr1:212873445-212873454
28	POLR2A	chr1:212872353-212874121	GM18951	blood:	n/a	n/a
29	POLR2A	chr1:212872338-212873437	A549	lung:	n/a	n/a
30	MAZ	chr1:212872374-212873182	Hela-S3	cervix:	n/a	chr1:212872700-212872711 chr1:212872702-212872709 chr1:212872701-212872710 chr1:212872699-212872714 chr1:212872700-212872710
31	MAX	chr1:212872350-212874359	GM12878	blood:	n/a	chr1:212873445-212873454 chr1:212873323-212873333 chr1:212872700-212872711 chr1:212872702-212872709 chr1:212873225-212873235 chr1:212872701-212872710 chr1:212873986-212873995 chr1:212873986-212873995 chr1:212873986-212873995 chr1:212873443-212873451 chr1:212873444-212873455 chr1:212873445-212873454 chr1:212872699-212872714 chr1:212873444-212873455 chr1:212872700-212872710 chr1:212873445-212873454
32	ELF1	chr1:212872170-212874347	GM12878	blood:	n/a	chr1:212873182-212873191
33	MAZ	chr1:212872379-212874090	GM12878	blood:	n/a	chr1:212873445-212873454 chr1:212873323-212873333 chr1:212872700-212872711 chr1:212872702-212872709 chr1:212873225-212873235 chr1:212872701-212872710 chr1:212873986-212873995 chr1:212873986-212873995 chr1:212873986-212873995 chr1:212873443-212873451 chr1:212873444-212873455 chr1:212873445-212873454 chr1:212872699-212872714 chr1:212873444-212873455 chr1:212872700-212872710 chr1:212873445-212873454
34	YY1	chr1:212872435-212873196	GM12892	blood:	n/a	n/a
35	ZNF143	chr1:212872125-212874164	GM12878	blood:	n/a	chr1:212873181-212873191 chr1:212873668-212873678 chr1:212872758-212872776
36	CTCF	chr1:212872390-212873146	K562	blood:	n/a	chr1:212872514-212872527 chr1:212872605-212872614 chr1:212872514-212872532 chr1:212872517-212872530 chr1:212872765-212872778 chr1:212872762-212872780
37	E2F6	chr1:212872502-212874630	A549	lung:	n/a	chr1:212874470-212874477 chr1:212873219-212873229 chr1:212873421-212873431 chr1:212874470-212874477 chr1:212873224-212873233 chr1:212873180-212873190 chr1:212874470-212874477
38	MAX	chr1:212872215-212874767	A549	lung:	n/a	chr1:212873445-212873454 chr1:212873323-212873333 chr1:212872700-212872711 chr1:212872702-212872709 chr1:212873225-212873235 chr1:212874385-212874396 chr1:212872701-212872710 chr1:212873986-212873995 chr1:212873986-212873995 chr1:212873986-212873995 chr1:212873443-212873451 chr1:212874394-212874404 chr1:212873444-212873455 chr1:212873445-212873454 chr1:212872699-212872714 chr1:212873444-212873455 chr1:212872700-212872710 chr1:212873445-212873454
39	MAX	chr1:212872147-212873803	HepG2	liver:	n/a	chr1:212873445-212873454 chr1:212873323-212873333 chr1:212872700-212872711 chr1:212872702-212872709 chr1:212873225-212873235 chr1:212872701-212872710 chr1:212873443-212873451 chr1:212873444-212873455 chr1:212873445-212873454 chr1:212872699-212872714 chr1:212873444-212873455 chr1:212872700-212872710 chr1:212873445-212873454
40	POLR2A	chr1:212872281-212874909	GM19099	blood:	n/a	n/a
41	SETDB1	chr1:212872495-212873313	K562	blood:	n/a	n/a
42	CTCF	chr1:212872096-212873189	SK-N-SH	brain:	n/a	chr1:212872514-212872527 chr1:212872605-212872614 chr1:212872514-212872532 chr1:212872517-212872530 chr1:212872765-212872778 chr1:212872762-212872780
43	POLR2A	chr1:212872378-212874705	GM18526	blood:	n/a	n/a
44	CEBPB	chr1:212872919-212873240	HepG2	liver:	n/a	n/a
45	POLR2A	chr1:212872894-212873130	A549	lung:	n/a	n/a
46	POLR2A	chr1:212872302-212874160	GM12878	blood:	n/a	n/a
47	POLR2A	chr1:212872803-212873390	Gliobla	brain:	n/a	n/a
48	POLR2A	chr1:212872516-212873967	NB4	blood:	n/a	n/a
49	ZEB1	chr1:212872453-212873077	GM12878	blood:	n/a	n/a
50	HMGN3	chr1:212872523-212873187	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:212779956..212785175-chr1:212870276..212874748,7	K562	blood:
2	chr1:212780968..212782915-chr1:212872894..212874871,2	MCF-7	breast:
3	chr1:212872476..212873206-chr1:213140873..213141422,2	K562	blood:
4	chr1:212872473..212873111-chr1:212955524..212956225,2	MCF-7	breast:
5	chr1:212872567..212873252-chr1:212955508..212956261,2	K562	blood:
6	chr1:212779956..212783547-chr1:212870276..212874584,4	K562	blood:
7	chr1:212872500..212873127-chr1:212891520..212892244,2	MCF-7	breast:

Variant related genes	Relation type
BATF3	TF binding region
ENSG00000162772	Chromatin interaction

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

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

rs_ID	r²[population]
rs12133919	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1995689	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2221593	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2233925	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3754482	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3768547	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73079851	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7533434	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212871800-212873200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:212872000-212873800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr1:212872000-212874600	Active TSS	Brain Angular Gyrus	brain
4	chr1:212872000-212874800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:212872200-212873800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr1:212872200-212873800	Flanking Bivalent TSS/Enh	Dnd41	blood
7	chr1:212872200-212874000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:212872200-212874000	Flanking Active TSS	Right Ventricle	heart
9	chr1:212872200-212874000	Flanking Bivalent TSS/Enh	HMEC	breast
10	chr1:212872200-212874600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:212872200-212874600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr1:212872200-212874600	Bivalent Enhancer	Fetal Brain Male	brain
13	chr1:212872200-212874600	Active TSS	A549	lung
14	chr1:212872200-212874800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr1:212872200-212874800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr1:212872200-212874800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr1:212872200-212874800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:212872400-212873800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:212872400-212873800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:212872400-212874000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:212872400-212874000	Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr1:212872400-212874000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:212872400-212874000	Active TSS	Brain Anterior Caudate	brain
24	chr1:212872400-212874000	Flanking Active TSS	Pancreas	Pancrea
25	chr1:212872400-212874200	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr1:212872400-212874200	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr1:212872400-212874200	Bivalent/Poised TSS	HSMM	muscle
28	chr1:212872400-212874400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:212872400-212874400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:212872400-212874600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr1:212872400-212874600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr1:212872400-212874600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:212872400-212874600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr1:212872400-212874600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:212872400-212874600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:212872400-212874600	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr1:212872400-212874600	Active TSS	Brain Cingulate Gyrus	brain
38	chr1:212872400-212874600	Active TSS	NHLF	lung
39	chr1:212872400-212874800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:212872400-212874800	Enhancers	Fetal Heart	heart
41	chr1:212872600-212873400	Active TSS	Primary monocytes fromperipheralblood	blood
42	chr1:212872600-212873400	Active TSS	Duodenum Mucosa	Duodenum
43	chr1:212872600-212873400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
44	chr1:212872600-212873400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
45	chr1:212872600-212873400	Active TSS	HepG2	liver
46	chr1:212872600-212873400	Active TSS	Osteobl	bone
47	chr1:212872600-212873600	Bivalent/Poised TSS	Hela-S3	cervix
48	chr1:212872600-212873800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:212872600-212873800	Active TSS	GM12878-XiMat	blood
50	chr1:212872600-212874000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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