Variant report

Variant	rs1546723
Chromosome Location	chr6:109625879-109625880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr6:109625503-109626019	K562	blood:	n/a	n/a
2	NR2F2	chr6:109625062-109626138	K562	blood:	n/a	n/a
3	MYC	chr6:109624828-109626301	K562	blood:	n/a	n/a
4	HMGN3	chr6:109625169-109626147	K562	blood:	n/a	n/a
5	SPI1	chr6:109625326-109626234	GM12878	blood:	n/a	n/a
6	BATF	chr6:109625525-109625958	GM12878	blood:	n/a	n/a
7	RUNX3	chr6:109625501-109626052	GM12878	blood:	n/a	n/a
8	MAFF	chr6:109625204-109626105	K562	blood:	n/a	n/a
9	EP300	chr6:109624869-109626613	K562	blood:	n/a	chr6:109624963-109624973
10	MEF2A	chr6:109625582-109626007	K562	blood:	n/a	n/a
11	STAT2	chr6:109625311-109626090	K562	blood:	n/a	chr6:109625783-109625798
12	STAT5A	chr6:109625381-109626313	K562	blood:	n/a	n/a
13	CREB1	chr6:109625283-109626208	K562	blood:	n/a	n/a
14	CTCF	chr6:109625501-109626140	K562	blood:	n/a	n/a
15	NFIC	chr6:109625472-109625968	GM12878	blood:	n/a	n/a
16	ELF1	chr6:109625423-109626221	K562	blood:	n/a	n/a
17	SPI1	chr6:109625582-109625943	GM12878	blood:	n/a	n/a
18	MYC	chr6:109624868-109626229	K562	blood:	n/a	n/a
19	PML	chr6:109625114-109626211	K562	blood:	n/a	n/a
20	JUND	chr6:109624960-109626258	K562	blood:	n/a	n/a
21	BACH1	chr6:109625548-109626037	K562	blood:	n/a	n/a
22	GATA2	chr6:109625161-109626144	K562	blood:	n/a	chr6:109625249-109625265 chr6:109625251-109625258
23	RAD21	chr6:109625583-109626069	K562	blood:	n/a	n/a
24	CEBPD	chr6:109625422-109626203	K562	blood:	n/a	n/a
25	SPI1	chr6:109625538-109626031	GM12891	blood:	n/a	n/a
26	TRIM28	chr6:109625266-109626078	K562	blood:	n/a	n/a
27	MYC	chr6:109624986-109626259	K562	blood:	n/a	n/a
28	TRIM28	chr6:109624749-109626180	K562	blood:	n/a	n/a
29	TAF1	chr6:109625572-109625959	K562	blood:	n/a	n/a
30	MAFK	chr6:109625233-109626082	K562	blood:	n/a	n/a
31	CHD2	chr6:109625065-109626025	K562	blood:	n/a	n/a
32	RCOR1	chr6:109624924-109626269	K562	blood:	n/a	n/a
33	GABPA	chr6:109625422-109626073	K562	blood:	n/a	n/a
34	USF1	chr6:109625457-109626147	K562	blood:	n/a	n/a
35	JUN	chr6:109625148-109626221	K562	blood:	n/a	n/a
36	TAL1	chr6:109625149-109626289	K562	blood:	n/a	n/a
37	BHLHE40	chr6:109625057-109626198	K562	blood:	n/a	n/a
38	ZNF274	chr6:109625202-109626061	K562	blood:	n/a	n/a
39	EP300	chr6:109625286-109626247	K562	blood:	n/a	n/a
40	GATA2	chr6:109625142-109626131	K562	blood:	n/a	chr6:109625249-109625265 chr6:109625251-109625258
41	REST	chr6:109625439-109626160	K562	blood:	n/a	n/a
42	USF1	chr6:109625349-109626186	K562	blood:	n/a	n/a
43	MEF2A	chr6:109625246-109626110	K562	blood:	n/a	n/a
44	CCNT2	chr6:109624959-109626164	K562	blood:	n/a	n/a
45	POLR2A	chr6:109625029-109626263	K562	blood:	n/a	n/a
46	HCFC1	chr6:109624970-109626203	K562	blood:	n/a	n/a
47	POLR2A	chr6:109625458-109626068	K562	blood:	n/a	n/a
48	CEBPB	chr6:109625511-109626011	K562	blood:	n/a	n/a
49	IRF1	chr6:109625214-109626088	K562	blood:	n/a	chr6:109625779-109625800
50	MXI1	chr6:109625263-109626090	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:109623091..109628183-chr6:109700606..109706462,9	K562	blood:
2	chr6:109625731..109626429-chr6:109704175..109704833,2	K562	blood:
3	chr6:109555640..109560553-chr6:109624000..109628580,4	K562	blood:
4	chr6:109625539..109627045-chr6:109630480..109632036,2	K562	blood:
5	chr6:109624816..109627658-chr6:109659263..109661556,2	K562	blood:
6	chr6:109624351..109631970-chr6:109702157..109706422,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000201023	TF binding region
CCDC162P	TF binding region
ENSG00000135535	Chromatin interaction
ENSG00000243587	Chromatin interaction
ENSG00000260273	Chromatin interaction
ENSG00000203799	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1008084	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11153165	0.94[ASN][1000 genomes]
rs11153166	0.94[ASN][1000 genomes]
rs11153167	0.94[ASN][1000 genomes]
rs11153168	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11751953	0.94[ASN][1000 genomes]
rs11757567	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961369	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966072	0.94[ASN][1000 genomes]
rs12664455	0.90[ASN][1000 genomes]
rs13191948	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13196219	0.94[ASN][1000 genomes]
rs13200047	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs13203155	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13219432	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219561	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1341271	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4548045	0.85[ASN][1000 genomes]
rs5005289	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55677234	0.94[ASN][1000 genomes]
rs59272337	0.92[ASN][1000 genomes]
rs6568569	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6568570	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6568571	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7748918	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773490	0.94[ASN][1000 genomes]
rs9374076	0.94[ASN][1000 genomes]
rs9374080	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9374081	0.94[ASN][1000 genomes]
rs9386779	0.85[ASN][1000 genomes]
rs9386795	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9386796	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9400265	0.94[ASN][1000 genomes]
rs9400272	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9400273	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9480924	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9487023	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9487048	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9487049	0.94[ASN][1000 genomes]
rs9487051	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9487052	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv527719	chr6:109624937-109631609	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109619200-109626800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:109619400-109629200	Weak transcription	Gastric	stomach
3	chr6:109619400-109638000	Weak transcription	HepG2	liver
4	chr6:109619600-109626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:109621400-109629600	Enhancers	Primary hematopoietic stem cells	blood
6	chr6:109621600-109634000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:109622400-109626200	Enhancers	Placenta	Placenta
8	chr6:109623600-109629400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:109624000-109627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:109624400-109626000	Enhancers	Hela-S3	cervix
11	chr6:109624400-109626400	Flanking Active TSS	K562	blood
12	chr6:109624400-109626600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr6:109624600-109626200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr6:109624600-109626400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:109624600-109626400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:109624600-109626400	Enhancers	Pancreas	Pancrea
17	chr6:109624600-109626600	Enhancers	Fetal Intestine Large	intestine
18	chr6:109624600-109631000	Enhancers	Fetal Intestine Small	intestine
19	chr6:109624800-109626000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:109624800-109626200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:109624800-109626400	Enhancers	Stomach Mucosa	stomach
22	chr6:109624800-109627400	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:109624800-109628200	Enhancers	Fetal Thymus	thymus
24	chr6:109624800-109629000	Enhancers	Duodenum Mucosa	Duodenum
25	chr6:109625000-109626200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:109625000-109626200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:109625000-109626200	Enhancers	Left Ventricle	heart
28	chr6:109625000-109626200	Enhancers	Right Ventricle	heart
29	chr6:109625000-109626400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr6:109625000-109627000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:109625000-109627000	Enhancers	Brain Substantia Nigra	brain
32	chr6:109625000-109627000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr6:109625000-109627400	Enhancers	Primary B cells from cord blood	blood
34	chr6:109625200-109626000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr6:109625200-109626000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:109625200-109626200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:109625200-109626200	Enhancers	Fetal Heart	heart
38	chr6:109625200-109626200	Enhancers	Thymus	Thymus
39	chr6:109625200-109626200	Enhancers	Spleen	Spleen
40	chr6:109625200-109626400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:109625200-109628200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:109625400-109626000	Enhancers	Brain Anterior Caudate	brain
43	chr6:109625400-109626000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr6:109625400-109626200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:109625400-109626200	Enhancers	Dnd41	blood
46	chr6:109625400-109627000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:109625600-109626000	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr6:109625600-109626000	Enhancers	HMEC	breast
49	chr6:109625600-109626200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:109625600-109626200	Enhancers	Lung	lung

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