Variant report

Variant	rs72700611
Chromosome Location	chr1:159768918-159768919
allele	C/T
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	chr1:159768641-159769004	K562	blood:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
2	RAD21	chr1:159768525-159769174	A549	lung:	n/a	chr1:159768780-159768799
3	RAD21	chr1:159768531-159769072	MCF-7	breast:	n/a	chr1:159768780-159768799
4	CTCF	chr1:159768672-159768925	HepG2	liver:	n/a	chr1:159768780-159768796 chr1:159768781-159768802 chr1:159768779-159768797
5	CTCF	chr1:159768682-159768997	SK-N-SH_RA	brain:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
6	MYC	chr1:159768742-159768953	HUVEC	blood vessel:	n/a	n/a
7	ZNF143	chr1:159768638-159769082	Hela-S3	cervix:	n/a	n/a
8	RAD21	chr1:159768584-159769118	Hela-S3	cervix:	n/a	chr1:159768780-159768799
9	CTCF	chr1:159768644-159768948	Pancreas_OC	pancreas:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
10	CTCF	chr1:159768675-159769030	A549	lung:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
11	CTCF	chr1:159768331-159769406	HCT-116	colon:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
12	MAX	chr1:159768526-159769174	A549	lung:	n/a	n/a
13	CTCF	chr1:159768780-159768930	GM12874	blood:	n/a	chr1:159768780-159768796 chr1:159768781-159768802
14	CTCF	chr1:159768729-159769039	MCF-7	breast:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
15	MXI1	chr1:159768746-159769007	Hela-S3	cervix:	n/a	n/a
16	MAX	chr1:159768662-159769054	A549	lung:	n/a	n/a
17	CTCF	chr1:159768506-159769213	MCF-7	breast:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
18	RAD21	chr1:159768579-159769067	SK-N-SH_RA	brain:	n/a	chr1:159768780-159768799
19	CTCF	chr1:159768764-159768960	GM12891	blood:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
20	MAX	chr1:159768653-159768979	A549	lung:	n/a	n/a
21	ZC3H11A	chr1:159768573-159768967	K562	blood:	n/a	n/a
22	CTCF	chr1:159768800-159768950	WERI-Rb-1	eye:	n/a	chr1:159768922-159768940
23	WRNIP1	chr1:159768541-159769349	GM12878	blood:	n/a	n/a
24	CTCF	chr1:159768655-159768978	Lung_OC	lung:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
25	CTCF	chr1:159768677-159769051	SK-N-SH_RA	brain:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
26	RAD21	chr1:159768423-159769414	SK-N-SH	brain:	n/a	chr1:159768780-159768799
27	CTCF	chr1:159768800-159768950	HepG2	liver:	n/a	chr1:159768922-159768940
28	YY1	chr1:159768562-159769128	H1-hESC	embryonic stem cell:	n/a	chr1:159768830-159768849
29	GTF2F1	chr1:159768728-159768985	H1-hESC	embryonic stem cell:	n/a	n/a
30	ZNF143	chr1:159768651-159769128	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr1:159768674-159769000	K562	blood:	n/a	n/a
32	RAD21	chr1:159768608-159769038	GM12878	blood:	n/a	chr1:159768780-159768799
33	NFYA	chr1:159768689-159769048	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr1:159768780-159768930	AG09309	skin:	n/a	chr1:159768780-159768796 chr1:159768781-159768802
35	MAX	chr1:159768627-159769040	SK-N-SH	brain:	n/a	n/a
36	RAD21	chr1:159768509-159769122	IMR90	lung:	n/a	chr1:159768780-159768799
37	CBX3	chr1:159768487-159769320	HCT-116	colon:	n/a	n/a
38	CTCF	chr1:159768762-159769043	H1-hESC	embryonic stem cell:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
39	CTCF	chr1:159768800-159768950	HEK293	kidney:	n/a	chr1:159768922-159768940
40	RAD21	chr1:159768563-159769118	H1-hESC	embryonic stem cell:	n/a	chr1:159768780-159768799
41	RAD21	chr1:159768551-159769089	MCF-7	breast:	n/a	chr1:159768780-159768799
42	CTCF	chr1:159768604-159769062	ECC-1	luminal epithelium:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
43	RAD21	chr1:159768656-159768996	GM12878	blood:	n/a	chr1:159768780-159768799
44	STAT3	chr1:159768687-159768976	MCF10A-Er-Src	breast:	n/a	chr1:159768853-159768864
45	MAX	chr1:159768688-159768988	GM12878	blood:	n/a	n/a
46	RAD21	chr1:159768546-159769111	SK-N-SH_RA	brain:	n/a	chr1:159768780-159768799
47	ZNF143	chr1:159768602-159768990	GM12878	blood:	n/a	n/a
48	MYC	chr1:159768645-159769014	K562	blood:	n/a	n/a
49	CTCF	chr1:159768662-159768968	GM19240	blood:	n/a	chr1:159768780-159768796 chr1:159768922-159768940 chr1:159768781-159768802 chr1:159768779-159768797
50	EP300	chr1:159768728-159768924	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:159767764..159770005-chr1:159860953..159862581,56	MCF-7	breast:
2	chr1:159767618..159769808-chr1:159861062..159862249,21	MCF-7	breast:
3	chr1:159768345..159769282-chr1:159859526..159860741,4	MCF-7	breast:
4	chr1:159768768..159770539-chr1:159892719..159895162,2	K562	blood:
5	chr1:159768315..159769250-chr1:159861096..159861662,3	K562	blood:
6	chr1:159767829..159770101-chr1:159851843..159854552,2	MCF-7	breast:
7	chr1:159768046..159769566-chr1:159975811..159977855,12	K562	blood:
8	chr1:159768235..159769330-chr1:159915062..159916235,4	K562	blood:
9	chr1:159768310..159769697-chr1:159798745..159799727,11	MCF-7	breast:
10	chr1:159767187..159770392-chr1:159770720..159774821,3	K562	blood:
11	chr1:159760951..159764398-chr1:159766034..159769710,4	K562	blood:

Variant related genes	Relation type
FCRL6	TF binding region
ENSG00000158710	Chromatin interaction
ENSG00000181036	Chromatin interaction
ENSG00000085552	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4656246	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55742616	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55997732	0.90[EUR][1000 genomes]
rs61821619	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821621	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821622	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821626	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821627	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821659	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823160	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823162	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823163	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823164	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823165	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427496	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72700609	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700610	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700615	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700621	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700626	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700627	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72700628	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72700632	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72700634	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7519854	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525794	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528163	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549918	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv521503	chr1:159762120-159795478	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159765600-159770000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:159768400-159771400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:159768600-159770200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:159768800-159769000	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:159768800-159769000	Enhancers	Placenta	Placenta
6	chr1:159768800-159769200	Enhancers	Stomach Mucosa	stomach
7	chr1:159768800-159770000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr1:159768800-159770000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:159768800-159770200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:159768800-159770200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:159768800-159770400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:159768800-159770600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:159768800-159770600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:159768800-159770600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:159768800-159770800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:159768800-159770800	Enhancers	Fetal Thymus	thymus
17	chr1:159768800-159771000	Enhancers	Primary T cells from cord blood	blood
18	chr1:159768800-159771200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:159768800-159771400	Enhancers	Thymus	Thymus

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