Variant report

Variant	rs7543051
Chromosome Location	chr1:154905179-154905180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:154905137-154905217	HUVEC	blood vessel:	n/a	n/a
2	CEBPB	chr1:154904469-154905198	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr1:154904441-154905212	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:154904353-154905602	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154850056..154852682-chr1:154903933..154905463,2	MCF-7	breast:
2	chr1:154901654..154906164-chr1:154907018..154910146,5	K562	blood:
3	chr1:154904761..154906507-chr20:52729592..52731251,2	MCF-7	breast:
4	chr1:154903050..154905621-chr1:154907770..154910146,3	K562	blood:
5	chr1:154903245..154906216-chr1:154928700..154931455,2	K562	blood:
6	chr1:154886112..154888306-chr1:154903481..154905396,2	K562	blood:
7	chr1:154519911..154522029-chr1:154904733..154906266,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270361	TF binding region
ENSG00000163344	Chromatin interaction
ENSG00000270361	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10796935	0.81[AFR][1000 genomes]
rs11264286	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11264287	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11581175	1.00[CEU][hapmap]
rs11799384	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16836521	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1891805	1.00[CEU][hapmap]
rs2211498	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34215800	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4339857	0.81[AFR][1000 genomes]
rs55887894	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56720968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6689022	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6696628	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7539805	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7551495	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv2977	chr1:154881053-154907613	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv872453	chr1:154904840-154995503	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
5	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154884800-154908400	Weak transcription	Psoas Muscle	Psoas
2	chr1:154886800-154908200	Weak transcription	Fetal Heart	heart
3	chr1:154891200-154908600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:154892600-154905400	Strong transcription	Fetal Muscle Leg	muscle
5	chr1:154893200-154905600	Strong transcription	Stomach Smooth Muscle	stomach
6	chr1:154893200-154908200	Weak transcription	NH-A	brain
7	chr1:154893400-154905600	Strong transcription	Fetal Stomach	stomach
8	chr1:154894400-154908400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:154895000-154907600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:154895800-154908000	Weak transcription	Fetal Brain Male	brain
11	chr1:154896000-154908200	Weak transcription	HUVEC	blood vessel
12	chr1:154896800-154908600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:154898200-154908400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:154898800-154908200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:154898800-154908200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:154898800-154908200	Weak transcription	HSMMtube	muscle
17	chr1:154899000-154905200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr1:154899000-154907600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:154899000-154908200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:154899000-154908200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:154899200-154907600	Weak transcription	Dnd41	blood
22	chr1:154899200-154908200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:154899200-154908200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:154899200-154908200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:154899200-154908600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:154899200-154908800	Weak transcription	Small Intestine	intestine
27	chr1:154899400-154908200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:154899400-154908200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:154899400-154908400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:154899400-154908400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:154899600-154908200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:154899600-154908200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:154899600-154908200	Weak transcription	NHLF	lung
34	chr1:154900200-154905400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr1:154900200-154908200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:154900600-154908200	Weak transcription	HSMM	muscle
37	chr1:154900600-154908400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:154900800-154907400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:154901000-154908400	Weak transcription	NHDF-Ad	bronchial
40	chr1:154901600-154907800	Weak transcription	Primary B cells from cord blood	blood
41	chr1:154901600-154907800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:154901600-154908000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:154901600-154908600	Weak transcription	Right Ventricle	heart
44	chr1:154901800-154906200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:154901800-154908200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:154901800-154908200	Weak transcription	Fetal Kidney	kidney
47	chr1:154901800-154908400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:154902000-154907800	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:154902000-154908200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:154902000-154908400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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