Variant report

Variant	rs55731318
Chromosome Location	chr1:59015154-59015155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:59014952-59015284	K562	blood:	n/a	n/a
2	TEAD4	chr1:59014648-59015535	K562	blood:	n/a	n/a
3	TEAD4	chr1:59014954-59015252	K562	blood:	n/a	n/a
4	NR2F2	chr1:59014743-59015362	K562	blood:	n/a	n/a
5	JUN	chr1:59014994-59015265	K562	blood:	n/a	n/a
6	CEBPB	chr1:59014938-59015687	K562	blood:	n/a	n/a
7	RCOR1	chr1:59015066-59015204	K562	blood:	n/a	n/a
8	STAT5A	chr1:59014854-59015267	K562	blood:	n/a	n/a
9	TAL1	chr1:59014918-59015239	K562	blood:	n/a	n/a
10	MYC	chr1:59015005-59015542	K562	blood:	n/a	n/a
11	BHLHE40	chr1:59015042-59015184	K562	blood:	n/a	n/a
12	JUND	chr1:59014984-59015390	K562	blood:	n/a	n/a
13	STAT5A	chr1:59014913-59015298	K562	blood:	n/a	n/a
14	EP300	chr1:59014915-59015253	K562	blood:	n/a	n/a
15	MAX	chr1:59014999-59015155	K562	blood:	n/a	n/a
16	CEBPB	chr1:59014986-59015678	K562	blood:	n/a	n/a
17	NR2F2	chr1:59014947-59015276	K562	blood:	n/a	n/a
18	TBL1XR1	chr1:59014931-59015240	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59014802..59017431-chr1:59018623..59020469,2	K562	blood:
2	chr1:59010376..59013266-chr1:59015138..59019159,5	K562	blood:
3	chr1:58981796..58983981-chr1:59013881..59016702,2	K562	blood:
4	chr1:59010739..59013825-chr1:59014370..59019048,5	K562	blood:

No data

Variant related genes	Relation type
DAB1	TF binding region
OMA1	TF binding region
ENSG00000270209	Chromatin interaction
ENSG00000162600	Chromatin interaction
ENSG00000173406	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1062964	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs55928139	1.00[AMR][1000 genomes]
rs56065191	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56381640	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58370530	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs59893840	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6671358	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6674248	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72669891	0.83[AMR][1000 genomes]
rs72672209	1.00[AMR][1000 genomes]
rs72672211	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72672213	0.80[EUR][1000 genomes]
rs72672221	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72672225	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72672226	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72672238	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72672239	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72672249	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72672271	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72672286	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72674118	0.93[EUR][1000 genomes]
rs72674121	0.93[EUR][1000 genomes]
rs72674127	0.93[EUR][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	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59012400-59015400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:59012600-59016200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:59012800-59015200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:59012800-59016000	Enhancers	HepG2	liver
5	chr1:59012800-59016600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:59012800-59017400	Weak transcription	Pancreas	Pancrea
7	chr1:59012800-59017600	Weak transcription	Aorta	Aorta
8	chr1:59013000-59016600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:59013000-59016600	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:59013000-59016600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:59013200-59017000	Weak transcription	Fetal Brain Male	brain
12	chr1:59013800-59015200	Enhancers	K562	blood
13	chr1:59014200-59015800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:59014400-59015800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:59014600-59016400	Enhancers	Fetal Intestine Small	intestine
16	chr1:59014600-59018000	Enhancers	Fetal Lung	lung
17	chr1:59014800-59015200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:59014800-59015200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:59014800-59015200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:59014800-59015200	Weak transcription	Fetal Intestine Large	intestine
21	chr1:59014800-59016000	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:59014800-59017400	Weak transcription	Ovary	ovary
23	chr1:59015000-59015200	Flanking Active TSS	Fetal Kidney	kidney

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