Variant report

Variant	rs73204890
Chromosome Location	chr7:86777738-86777739
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	EP300	chr7:86777726-86778056	K562	blood:	n/a	n/a
2	CTCF	chr7:86777628-86778105	GM12878	blood:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
3	TBL1XR1	chr7:86777636-86778069	GM12878	blood:	n/a	n/a
4	CTCF	chr7:86777688-86778082	HepG2	liver:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
5	RAD21	chr7:86777591-86778231	MCF-7	breast:	n/a	chr7:86777859-86777878
6	RAD21	chr7:86777648-86778057	GM12878	blood:	n/a	chr7:86777859-86777878
7	CTCF	chr7:86777669-86778121	MCF-7	breast:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
8	MAZ	chr7:86777423-86778034	K562	blood:	n/a	n/a
9	RAD21	chr7:86777708-86778007	HepG2	liver:	n/a	chr7:86777859-86777878
10	CEBPB	chr7:86777724-86778277	MCF-7	breast:	n/a	n/a
11	RCOR1	chr7:86777729-86778106	K562	blood:	n/a	n/a
12	RAD21	chr7:86777567-86778061	HepG2	liver:	n/a	chr7:86777859-86777878
13	RAD21	chr7:86777649-86778024	GM12878	blood:	n/a	chr7:86777859-86777878
14	SMC3	chr7:86777688-86778139	K562	blood:	n/a	chr7:86777863-86777877
15	HCFC1	chr7:86777357-86778035	K562	blood:	n/a	n/a
16	SMC3	chr7:86777605-86778058	GM12878	blood:	n/a	chr7:86777863-86777877
17	RAD21	chr7:86777683-86778012	K562	blood:	n/a	chr7:86777859-86777878
18	ZNF143	chr7:86777624-86778051	K562	blood:	n/a	n/a
19	RAD21	chr7:86777638-86778055	H1-hESC	embryonic stem cell:	n/a	chr7:86777859-86777878
20	CTCF	chr7:86777207-86778134	K562	blood:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
21	RAD21	chr7:86777632-86778135	SK-N-SH_RA	brain:	n/a	chr7:86777859-86777878
22	RAD21	chr7:86777659-86778116	ECC-1	luminal epithelium:	n/a	chr7:86777859-86777878
23	MYC	chr7:86777592-86777961	K562	blood:	n/a	n/a
24	CTCF	chr7:86777692-86778018	A549	lung:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
25	CEBPB	chr7:86777713-86778116	K562	blood:	n/a	n/a
26	RAD21	chr7:86777590-86777988	K562	blood:	n/a	chr7:86777859-86777878
27	TBL1XR1	chr7:86777559-86778132	K562	blood:	n/a	n/a
28	RAD21	chr7:86777705-86778176	MCF-7	breast:	n/a	chr7:86777859-86777878
29	SMC3	chr7:86777603-86778110	Hela-S3	cervix:	n/a	chr7:86777863-86777877
30	RAD21	chr7:86777689-86778008	A549	lung:	n/a	chr7:86777859-86777878
31	RAD21	chr7:86777594-86778129	H1-hESC	embryonic stem cell:	n/a	chr7:86777859-86777878
32	ARID3A	chr7:86777676-86778121	K562	blood:	n/a	n/a
33	CTCF	chr7:86777650-86778130	HCT-116	colon:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
34	IRF1	chr7:86777719-86778036	K562	blood:	n/a	n/a
35	CTCF	chr7:86777714-86778039	A549	lung:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
36	CTCF	chr7:86777528-86778229	HCT-116	colon:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
37	ZNF143	chr7:86777724-86778049	GM12878	blood:	n/a	n/a
38	CTCF	chr7:86777720-86777870	RPTEC	kidney:	n/a	n/a
39	CTCF	chr7:86777705-86778034	H1-hESC	embryonic stem cell:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
40	RAD21	chr7:86777630-86778066	ECC-1	luminal epithelium:	n/a	chr7:86777859-86777878
41	RAD21	chr7:86777667-86778067	IMR90	lung:	n/a	chr7:86777859-86777878
42	RAD21	chr7:86777451-86778127	HCT-116	colon:	n/a	chr7:86777859-86777878
43	RAD21	chr7:86777655-86778052	K562	blood:	n/a	chr7:86777859-86777878
44	CTCF	chr7:86777594-86777988	A549	lung:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
45	RAD21	chr7:86777626-86778010	A549	lung:	n/a	chr7:86777859-86777878
46	CTCF	chr7:86777305-86778325	SK-N-SH	brain:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
47	CTCF	chr7:86777691-86778068	IMR90	lung:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
48	CTCF	chr7:86777675-86778083	K562	blood:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
49	ZMIZ1	chr7:86777684-86778109	K562	blood:	n/a	n/a
50	ZNF384	chr7:86777484-86778033	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:86543870..86544512-chr7:86777399..86778371,5	K562	blood:
2	chr7:86774241..86777874-chr7:86780751..86783070,4	MCF-7	breast:
3	chr7:86642806..86643592-chr7:86777432..86778252,3	MCF-7	breast:
4	chr7:86743993..86746929-chr7:86777540..86779629,2	K562	blood:
5	chr7:86689129..86690727-chr7:86777649..86779867,2	K562	blood:
6	chr7:86555804..86556575-chr7:86777404..86778295,4	K562	blood:
7	chr7:86566997..86568665-chr7:86776985..86778499,2	MCF-7	breast:
8	chr7:86568296..86569388-chr7:86777465..86778298,4	MCF-7	breast:
9	chr7:86543892..86544672-chr7:86777496..86778313,3	MCF-7	breast:
10	chr7:86688365..86690088-chr7:86776732..86778819,2	MCF-7	breast:
11	chr7:86543490..86544424-chr7:86777437..86778157,3	MCF-7	breast:
12	chr7:86688749..86689587-chr7:86777457..86778379,5	MCF-7	breast:
13	chr7:86777355..86778194-chr7:86865903..86866439,3	MCF-7	breast:
14	chr7:86565014..86570246-chr7:86776196..86779277,4	K562	blood:
15	chr7:86721191..86723956-chr7:86776438..86778233,2	MCF-7	breast:
16	chr7:86568242..86569711-chr7:86777392..86778327,7	MCF-7	breast:
17	chr7:86777151..86779523-chr7:86848801..86851010,2	K562	blood:
18	chr7:86642654..86643852-chr7:86776978..86778161,3	MCF-7	breast:
19	chr7:86555575..86556607-chr7:86777323..86778397,7	MCF-7	breast:
20	chr7:86568259..86569226-chr7:86776924..86778150,7	K562	blood:
21	chr7:86540771..86562582-chr7:86776173..86789890,50	K562	blood:

Variant related genes	Relation type
DMTF1	TF binding region
ENSG00000135164	Chromatin interaction
ENSG00000135185	Chromatin interaction
ENSG00000164659	Chromatin interaction
ENSG00000224046	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11762311	0.86[AMR][1000 genomes]
rs11769063	0.86[AMR][1000 genomes]
rs11771569	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11773103	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11971131	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11978231	0.83[AMR][1000 genomes]
rs17161329	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55750589	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55834411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56378450	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202978	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202980	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202982	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202993	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73204819	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73204892	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73204895	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73206905	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73206912	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73206916	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73206937	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73206984	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73208507	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73208517	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73208522	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73208537	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73208546	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73210234	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73210242	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73210250	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73210264	0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1028503	chr7:86684514-86778047	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1016761	chr7:86758544-86914152	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86771000-86780800	Weak transcription	Fetal Intestine Large	intestine
2	chr7:86771400-86780400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:86774600-86780400	Weak transcription	GM12878-XiMat	blood
4	chr7:86774600-86780600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:86774600-86780800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:86776400-86780600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:86776800-86780600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:86776800-86780800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:86776800-86780800	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:86777000-86780800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:86777200-86780600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:86777200-86780800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:86777400-86777800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:86777400-86778200	Enhancers	Hela-S3	cervix
15	chr7:86777600-86778200	Enhancers	Brain Cingulate Gyrus	brain

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