Variant report

Variant	rs7846127
Chromosome Location	chr8:10406016-10406017
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:10405557-10406024	A549	lung:	n/a	chr8:10406004-10406017 chr8:10405748-10405767 chr8:10405928-10405941 chr8:10405753-10405765
2	MAX	chr8:10405548-10406307	H1-hESC	embryonic stem cell:	n/a	chr8:10406137-10406147
3	CTCF	chr8:10405474-10406044	MCF-7	breast:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
4	RAD21	chr8:10405486-10406021	ECC-1	luminal epithelium:	n/a	chr8:10406004-10406017 chr8:10405748-10405767 chr8:10405928-10405941 chr8:10405753-10405765
5	MAX	chr8:10405571-10406049	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr8:10405537-10406056	A549	lung:	n/a	chr8:10406004-10406017 chr8:10405748-10405767 chr8:10405928-10405941 chr8:10405753-10405765
7	RAD21	chr8:10405333-10406088	HCT-116	colon:	n/a	chr8:10406004-10406017 chr8:10405748-10405767 chr8:10405928-10405941 chr8:10405753-10405765
8	CTCF	chr8:10405223-10406155	A549	lung:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
9	CTCF	chr8:10406000-10406150	GM12878	blood:	n/a	n/a
10	CTCF	chr8:10405993-10406068	GM19240	blood:	n/a	n/a
11	SMC3	chr8:10405447-10406101	SK-N-SH	brain:	n/a	chr8:10405749-10405763
12	SMC3	chr8:10405564-10406114	K562	blood:	n/a	chr8:10405749-10405763
13	RAD21	chr8:10405432-10406039	HCT-116	colon:	n/a	chr8:10406004-10406017 chr8:10405748-10405767 chr8:10405928-10405941 chr8:10405753-10405765
14	CTCF	chr8:10405328-10406325	SK-N-SH	brain:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
15	CTCF	chr8:10405318-10406112	HCT-116	colon:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
16	RAD21	chr8:10405263-10406203	SK-N-SH	brain:	n/a	chr8:10406004-10406017 chr8:10405748-10405767 chr8:10405928-10405941 chr8:10405753-10405765
17	RAD21	chr8:10405457-10406069	H1-hESC	embryonic stem cell:	n/a	chr8:10406004-10406017 chr8:10405748-10405767 chr8:10405928-10405941 chr8:10405753-10405765

No.	Distal block	Cell Line	Cell type
1	chr8:10405123..10407146-chr8:10694080..10697115,3	MCF-7	breast:
2	chr8:10405164..10407665-chr8:10409193..10412013,2	K562	blood:
3	chr8:10405624..10406204-chr8:10444484..10445163,2	MCF-7	breast:

Variant related genes	Relation type
PRSS51	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11250028	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11250029	0.90[ASN][1000 genomes]
rs11777282	0.89[ASN][1000 genomes]
rs11782544	0.80[ASN][1000 genomes]
rs12541597	0.98[ASN][1000 genomes]
rs12674734	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12676504	0.83[ASN][1000 genomes]
rs12676744	0.93[EUR][1000 genomes]
rs34770482	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34999153	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35234702	0.82[ASN][1000 genomes]
rs35276159	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35427890	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35847318	0.80[ASN][1000 genomes]
rs35858883	0.96[ASN][1000 genomes]
rs4240654	0.80[ASN][1000 genomes]
rs4307300	0.81[ASN][1000 genomes]
rs4398871	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4404876	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4841371	0.94[EUR][1000 genomes]
rs4841380	0.82[ASN][1000 genomes]
rs55700180	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55894133	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6986876	0.83[ASN][1000 genomes]
rs6987477	0.98[ASN][1000 genomes]
rs7815466	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7842540	0.91[ASN][1000 genomes]
rs7846484	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv1025251	chr8:10343591-10488557	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10403200-10406200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr8:10403200-10406200	Enhancers	Right Ventricle	heart
3	chr8:10403200-10407000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:10403400-10406600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:10403400-10407200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr8:10403400-10412000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:10403800-10408200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:10403800-10408200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:10404600-10406200	Enhancers	Gastric	stomach
10	chr8:10404600-10406200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:10404800-10422000	Weak transcription	Right Atrium	heart
12	chr8:10405400-10406200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:10405400-10406200	Enhancers	Liver	Liver
14	chr8:10405600-10406200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:10405600-10406200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr8:10405600-10406200	Enhancers	Fetal Brain Male	brain
17	chr8:10405600-10407400	Enhancers	Fetal Muscle Leg	muscle
18	chr8:10405800-10406200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:10405800-10406200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:10405800-10406400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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