Variant report

Variant	rs7842540
Chromosome Location	chr8:10405829-10405830
allele	A/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	CTCF	chr8:10405680-10405830	HCT-116	colon:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
2	MYC	chr8:10405573-10405930	K562	blood:	n/a	n/a
3	RAD21	chr8:10405557-10406024	A549	lung:	n/a	chr8:10406004-10406017 chr8:10405748-10405767 chr8:10405928-10405941 chr8:10405753-10405765
4	CTCF	chr8:10405680-10405830	HepG2	liver:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
5	POLR2A	chr8:10405788-10405849	MCF-7	breast:	n/a	n/a
6	CTCF	chr8:10405680-10405830	HRE	kidney:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
7	CTCF	chr8:10405680-10405830	HMEC	breast:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
8	CTCF	chr8:10405680-10405830	GM12873	blood:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
9	TBP	chr8:10405661-10405904	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr8:10405680-10405830	AG04450	lung:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
11	CTCF	chr8:10405680-10405830	HCPEpiC	choroid plexus:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
12	CTCF	chr8:10405601-10405860	HepG2	liver:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
13	MAX	chr8:10405548-10406307	H1-hESC	embryonic stem cell:	n/a	chr8:10406137-10406147
14	CTCF	chr8:10405700-10405850	AG10803	skin:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
15	RAD21	chr8:10405504-10405933	HepG2	liver:	n/a	chr8:10405748-10405767 chr8:10405753-10405765
16	CTCF	chr8:10405479-10405970	A549	lung:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
17	CTCF	chr8:10405680-10405830	GM12864	blood:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
18	RAD21	chr8:10405497-10405999	H1-hESC	embryonic stem cell:	n/a	chr8:10405748-10405767 chr8:10405928-10405941 chr8:10405753-10405765
19	RAD21	chr8:10405630-10405915	MCF-7	breast:	n/a	chr8:10405748-10405767 chr8:10405753-10405765
20	CTCF	chr8:10405448-10406014	K562	blood:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
21	CTCF	chr8:10405680-10405830	Hela-S3	cervix:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
22	USF1	chr8:10405614-10405916	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr8:10405680-10405830	HVMF	connective:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
24	CTCF	chr8:10405700-10405850	HCFaa	heart:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
25	CTCF	chr8:10405740-10405890	A549	lung:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
26	CTCF	chr8:10405605-10405919	NHEK	skin:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
27	SMC3	chr8:10405628-10405893	HepG2	liver:	n/a	chr8:10405749-10405763
28	JUND	chr8:10405579-10405921	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr8:10405700-10405850	GM12874	blood:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
30	CTCF	chr8:10405589-10405909	MCF-7	breast:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
31	CTCF	chr8:10405645-10405833	SK-N-SH_RA	brain:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
32	CTCF	chr8:10405581-10405916	GM19240	blood:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
33	CTCF	chr8:10405614-10405918	GM19239	blood:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
34	CTCF	chr8:10405680-10405830	HMF	breast:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
35	RAD21	chr8:10405525-10406001	MCF-7	breast:	n/a	chr8:10405748-10405767 chr8:10405928-10405941 chr8:10405753-10405765
36	ZNF143	chr8:10405416-10405954	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr8:10405680-10405830	GM12871	blood:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
38	CTCF	chr8:10405680-10405830	GM12868	blood:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
39	CTCF	chr8:10405615-10405863	Pancreas_OC	pancreas:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
40	CTCF	chr8:10405636-10405895	MCF-7	breast:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
41	CTCF	chr8:10405700-10405850	HRE	kidney:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
42	CTCF	chr8:10405680-10405830	GM12874	blood:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
43	CTCF	chr8:10405680-10405830	HCM	heart:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
44	CTCF	chr8:10405680-10405830	GM12875	blood:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
45	CTCF	chr8:10405474-10406044	MCF-7	breast:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
46	CTCF	chr8:10405700-10405850	HVMF	connective:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
47	CTCF	chr8:10405608-10405901	MCF-7	breast:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
48	RAD21	chr8:10405593-10405937	HepG2	liver:	n/a	chr8:10405748-10405767 chr8:10405753-10405765
49	CTCF	chr8:10405680-10405830	GM12869	blood:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
50	CTCF	chr8:10405640-10405878	GM13976	blood:	n/a	chr8:10405747-10405765 chr8:10405749-10405770

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	chr8:10405304..10405893-chr8:10696191..10696982,2	MCF-7	breast:
4	chr8:10405624..10406204-chr8:10444484..10445163,2	MCF-7	breast:

Variant related genes	Relation type
PRSS51	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11250029	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11777282	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11782090	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11782544	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12541597	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12549461	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12549899	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12674734	0.80[ASN][1000 genomes]
rs12676504	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13266722	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13266727	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34356138	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34770482	0.80[ASN][1000 genomes]
rs34999153	0.80[ASN][1000 genomes]
rs35234702	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35276159	0.80[ASN][1000 genomes]
rs35810206	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35847318	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35858883	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4240654	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4307300	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4398871	0.80[ASN][1000 genomes]
rs4404876	0.83[ASN][1000 genomes]
rs4623376	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4840489	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4840491	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4841370	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4841380	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55700180	0.85[ASN][1000 genomes]
rs55894133	0.85[ASN][1000 genomes]
rs6601492	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6986876	0.80[ASN][1000 genomes]
rs6987477	0.94[ASN][1000 genomes]
rs71516582	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71516583	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7815466	0.83[ASN][1000 genomes]
rs7843134	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7846127	0.91[ASN][1000 genomes]
rs7846484	0.80[ASN][1000 genomes]
rs9801782	0.85[AMR][1000 genomes];0.94[EUR][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:29 , 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	chr8:10403600-10406000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:10403800-10408200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:10403800-10408200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:10404600-10406200	Enhancers	Gastric	stomach
11	chr8:10404600-10406200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr8:10404800-10422000	Weak transcription	Right Atrium	heart
13	chr8:10405400-10406000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:10405400-10406000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:10405400-10406000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:10405400-10406000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr8:10405400-10406000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:10405400-10406000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
19	chr8:10405400-10406200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:10405400-10406200	Enhancers	Liver	Liver
21	chr8:10405600-10406000	Enhancers	Rectal Smooth Muscle	rectum
22	chr8:10405600-10406200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:10405600-10406200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr8:10405600-10406200	Enhancers	Fetal Brain Male	brain
25	chr8:10405600-10407400	Enhancers	Fetal Muscle Leg	muscle
26	chr8:10405800-10406000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:10405800-10406200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:10405800-10406200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:10405800-10406400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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