Variant report

Variant	rs6676022
Chromosome Location	chr1:154162503-154162504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154161292..154163325-chr1:154245006..154246623,2	MCF-7	breast:
2	chr1:154161897..154165113-chr1:154191510..154194039,3	K562	blood:
3	chr1:154153141..154174161-chr1:154187746..154196033,47	MCF-7	breast:
4	chr1:154161421..154168420-chr1:154191340..154198003,13	MCF-7	breast:
5	chr1:154155288..154157675-chr1:154160593..154163426,2	K562	blood:
6	chr1:154154241..154157353-chr1:154161640..154168172,9	MCF-7	breast:
7	chr1:154158378..154160175-chr1:154161458..154162989,2	K562	blood:
8	chr1:154162391..154165167-chr1:154243401..154246301,3	K562	blood:
9	chr1:154161694..154164323-chr1:154174873..154176615,2	MCF-7	breast:
10	chr1:154161792..154164519-chr1:154243896..154245592,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143575	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143549	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11265238	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11802893	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12025237	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12026177	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12026615	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12027999	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12028949	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12038362	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12733060	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12738393	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12745098	0.92[ASN][1000 genomes]
rs16835846	0.82[EUR][1000 genomes]
rs16835852	0.82[EUR][1000 genomes]
rs2274993	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28372838	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34128679	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34335016	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35761479	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3762340	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3790613	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3790614	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3811453	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3811455	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828077	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3935419	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4433384	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4620534	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60282844	0.82[EUR][1000 genomes]
rs6673752	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription 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	239 gene(s)	inside rSNPs	diseases
5	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
6	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154156200-154163000	Weak transcription	Psoas Muscle	Psoas
2	chr1:154156400-154163200	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:154156400-154164200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:154156600-154164200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:154156800-154164200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:154157200-154164400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:154159000-154164600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:154159000-154184400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:154159600-154162800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:154159600-154162800	Weak transcription	Hela-S3	cervix
11	chr1:154159600-154163000	Weak transcription	HSMM	muscle
12	chr1:154159600-154163200	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr1:154159800-154162600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:154160200-154162800	Weak transcription	HepG2	liver
15	chr1:154160200-154164600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:154160400-154169400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:154160600-154162800	Weak transcription	HSMMtube	muscle
18	chr1:154160600-154163000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:154160600-154164400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:154160600-154164400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:154160600-154164600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:154160800-154163200	Weak transcription	Pancreas	Pancrea
23	chr1:154160800-154163400	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr1:154160800-154164400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:154160800-154164600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:154161400-154163000	Weak transcription	K562	blood

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