Variant report

Variant	rs57573777
Chromosome Location	chr1:113243666-113243667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:358)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr1:113243155-113243845	K562	blood:	n/a	n/a
2	CTCF	chr1:113243211-113243831	K562	blood:	n/a	chr1:113243509-113243522
3	JUN	chr1:113243097-113243886	K562	blood:	n/a	chr1:113243606-113243619
4	CTCF	chr1:113243560-113243710	AG04449	skin:	n/a	n/a
5	POLR2A	chr1:113243434-113243856	ECC-1	luminal epithelium:	n/a	n/a
6	EP300	chr1:113243081-113243748	ECC-1	luminal epithelium:	n/a	n/a
7	JUND	chr1:113243331-113243753	H1-hESC	embryonic stem cell:	n/a	n/a
8	MBD4	chr1:113243068-113243679	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:113242406-113244648	GM12891	blood:	n/a	n/a
10	KAP1	chr1:113242881-113244059	U2OS	brain:	n/a	chr1:113243474-113243482
11	HCFC1	chr1:113242919-113243821	K562	blood:	n/a	n/a
12	RCOR1	chr1:113242988-113243927	K562	blood:	n/a	n/a
13	ZBTB7A	chr1:113242993-113243757	K562	blood:	n/a	n/a
14	TCF12	chr1:113243039-113243988	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr1:113240102-113248907	U87	brain:	n/a	n/a
16	JUN	chr1:113243386-113243810	Hela-S3	cervix:	n/a	chr1:113243606-113243619
17	GTF2F1	chr1:113243429-113243766	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:113242991-113245744	HepG2	liver:	n/a	n/a
19	MAFK	chr1:113243007-113243969	K562	blood:	n/a	n/a
20	CBX3	chr1:113242817-113243845	K562	blood:	n/a	n/a
21	CTCF	chr1:113243540-113243690	HPF	lung:	n/a	n/a
22	BCL11A	chr1:113243324-113243676	GM12878	blood:	n/a	n/a
23	CTCF	chr1:113243540-113243690	HMF	breast:	n/a	n/a
24	POLR2A	chr1:113242791-113245242	GM18505	blood:	n/a	n/a
25	REST	chr1:113243479-113243797	SK-N-SH	brain:	n/a	n/a
26	JUND	chr1:113243080-113244201	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:113242543-113244402	MCF10A-Er-Src	breast:	n/a	n/a
28	SP1	chr1:113242970-113243896	K562	blood:	n/a	chr1:113243480-113243494 chr1:113243480-113243489 chr1:113243424-113243435
29	POLR2A	chr1:113243359-113243792	A549	lung:	n/a	n/a
30	CEBPB	chr1:113243135-113243761	K562	blood:	n/a	n/a
31	CTCF	chr1:113243560-113243710	AG09309	skin:	n/a	n/a
32	POLR2A	chr1:113243390-113243826	HepG2	liver:	n/a	n/a
33	POLR2A	chr1:113243323-113244597	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr1:113242765-113246490	HepG2	liver:	n/a	n/a
35	POLR2A	chr1:113242508-113244928	Hela-S3	cervix:	n/a	n/a
36	JUN	chr1:113243110-113244077	K562	blood:	n/a	chr1:113243606-113243619
37	CTCF	chr1:113243560-113243710	HPAF	blood vessel:	n/a	n/a
38	POLR2A	chr1:113243366-113243694	H1-hESC	embryonic stem cell:	n/a	n/a
39	ELF1	chr1:113242995-113243716	K562	blood:	n/a	n/a
40	POLR2A	chr1:113243372-113243802	GM12878	blood:	n/a	n/a
41	CTCF	chr1:113243600-113243750	K562	blood:	n/a	n/a
42	YY1	chr1:113243323-113243720	HepG2	liver:	n/a	n/a
43	ATF2	chr1:113243158-113243903	GM12878	blood:	n/a	n/a
44	MYBL2	chr1:113243060-113243937	HepG2	liver:	n/a	n/a
45	EP300	chr1:113243134-113243690	GM12878	blood:	n/a	n/a
46	CTCF	chr1:113243520-113243670	GM12864	blood:	n/a	n/a
47	POLR2A	chr1:113243433-113244441	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:113242995-113245745	HCT-116	colon:	n/a	n/a
49	POLR2A	chr1:113243508-113243802	A549	lung:	n/a	n/a
50	CTCF	chr1:113243540-113243690	HBMEC	blood vessel:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113242660..113244199-chr17:59477359..59479903,2	MCF-7	breast:
2	chr1:113159779..113171222-chr1:113238237..113251191,41	K562	blood:
3	chr1:113006953..113008825-chr1:113243522..113245594,2	MCF-7	breast:
4	chr1:113160443..113165363-chr1:113242054..113245654,5	K562	blood:
5	chr1:113214866..113222565-chr1:113237012..113253952,54	K562	blood:
6	chr1:113156399..113165396-chr1:113241191..113253782,55	MCF-7	breast:
7	chr1:113239573..113244483-chr1:113252369..113259292,10	K562	blood:
8	chr1:112937481..112939065-chr1:113242426..113245199,2	MCF-7	breast:
9	chr1:113184100..113185954-chr1:113242899..113245081,2	K562	blood:
10	chr1:113193973..113196320-chr1:113243250..113245358,2	K562	blood:
11	chr1:113193696..113198407-chr1:113243250..113250056,8	K562	blood:
12	chr1:113215224..113219998-chr1:113238829..113244717,20	MCF-7	breast:
13	chr1:113214002..113222947-chr1:113236890..113251579,47	MCF-7	breast:
14	chr1:113134544..113137482-chr1:113243651..113245216,2	MCF-7	breast:
15	chr1:113243471..113244007-chr7:4681456..4682284,2	Hela-S3	cervix:
16	chr1:113156746..113166477-chr1:113240630..113253423,46	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225075	TF binding region
ENSG00000116489	Chromatin interaction
ENSG00000155367	Chromatin interaction
ENSG00000155363	Chromatin interaction
ENSG00000235299	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000261595	Chromatin interaction
ENSG00000238975	Chromatin interaction
ENSG00000271810	Chromatin interaction
ENSG00000143079	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10399919	1.00[AMR][1000 genomes]
rs11102519	1.00[AMR][1000 genomes]
rs11102521	1.00[AMR][1000 genomes]
rs12060267	1.00[AMR][1000 genomes]
rs12069740	1.00[AMR][1000 genomes]
rs12073750	1.00[AMR][1000 genomes]
rs12074157	1.00[AMR][1000 genomes]
rs12077330	1.00[AMR][1000 genomes]
rs12087862	1.00[AMR][1000 genomes]
rs12095563	1.00[AMR][1000 genomes]
rs17030592	1.00[AMR][1000 genomes]
rs4424506	1.00[AMR][1000 genomes]
rs57354954	0.87[AFR][1000 genomes]
rs58634778	1.00[AMR][1000 genomes]
rs59053530	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61203550	1.00[AMR][1000 genomes]
rs72982599	1.00[AMR][1000 genomes]
rs72984503	1.00[AMR][1000 genomes]
rs72984509	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72984515	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72986505	1.00[AMR][1000 genomes]
rs72986535	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9919308	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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic 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 miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
5	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
8	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113219000-113243800	Weak transcription	Fetal Brain Male	brain
2	chr1:113229200-113248000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:113234000-113244400	Strong transcription	Thymus	Thymus
4	chr1:113235800-113244600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:113238000-113246400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:113238800-113246600	Genic enhancers	Placenta Amnion	Placenta Amnion
7	chr1:113239400-113246600	Genic enhancers	Fetal Intestine Large	intestine
8	chr1:113240200-113243800	Enhancers	Fetal Heart	heart
9	chr1:113240400-113247000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:113240400-113247200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:113240600-113244600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:113240600-113245600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:113240600-113245800	Genic enhancers	Lung	lung
14	chr1:113240600-113246800	Genic enhancers	Colonic Mucosa	Colon
15	chr1:113240600-113247000	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr1:113240600-113247000	Genic enhancers	Fetal Muscle Leg	muscle
17	chr1:113240600-113247200	Genic enhancers	Placenta	Placenta
18	chr1:113240800-113244400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr1:113240800-113244600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
20	chr1:113240800-113246400	Genic enhancers	Pancreas	Pancrea
21	chr1:113240800-113246600	Genic enhancers	Adipose Nuclei	Adipose
22	chr1:113240800-113247200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:113241000-113245800	Genic enhancers	Gastric	stomach
24	chr1:113241000-113246600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:113241200-113243800	Enhancers	Right Ventricle	heart
26	chr1:113241200-113243800	Enhancers	Stomach Mucosa	stomach
27	chr1:113241200-113244200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:113241200-113244600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:113241200-113244800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:113241200-113247000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:113241200-113247200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:113241400-113246400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:113241400-113246600	Genic enhancers	HMEC	breast
34	chr1:113241600-113247000	Genic enhancers	Fetal Intestine Small	intestine
35	chr1:113241600-113249200	Enhancers	Primary B cells from peripheral blood	blood
36	chr1:113241800-113247000	Genic enhancers	Colon Smooth Muscle	Colon
37	chr1:113242000-113244200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
38	chr1:113242000-113248000	Enhancers	Primary B cells from cord blood	blood
39	chr1:113242200-113243800	Strong transcription	Fetal Brain Female	brain
40	chr1:113242200-113244000	Transcr. at gene 5' and 3'	HepG2	liver
41	chr1:113242200-113244200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
42	chr1:113242200-113244200	Transcr. at gene 5' and 3'	K562	blood
43	chr1:113242200-113244600	Genic enhancers	Esophagus	oesophagus
44	chr1:113242200-113245400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr1:113242400-113244200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:113242400-113244600	Enhancers	Small Intestine	intestine
47	chr1:113242400-113245200	Genic enhancers	Fetal Thymus	thymus
48	chr1:113242400-113246200	Genic enhancers	Left Ventricle	heart
49	chr1:113242400-113247000	Genic enhancers	Fetal Stomach	stomach
50	chr1:113242400-113247000	Genic enhancers	Spleen	Spleen

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