Variant report

Variant	rs568300004
Chromosome Location	chr1:228191989-228191990
allele	A/C
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	MAX	chr1:228191779-228193032	H1-hESC	embryonic stem cell:	n/a	chr1:228192400-228192419 chr1:228192404-228192414 chr1:228192403-228192412 chr1:228192403-228192418 chr1:228192979-228192989 chr1:228192405-228192414 chr1:228192406-228192415
2	SMC3	chr1:228191851-228192693	SK-N-SH	brain:	n/a	chr1:228192156-228192170 chr1:228192629-228192639
3	RAD21	chr1:228191946-228192483	MCF-7	breast:	n/a	n/a
4	RAD21	chr1:228191919-228192445	MCF-7	breast:	n/a	n/a
5	CTCF	chr1:228191899-228192292	A549	lung:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
6	CTCF	chr1:228191950-228192285	T-47D	breast:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
7	CTCF	chr1:228191791-228192458	MCF-7	breast:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
8	CTCF	chr1:228191943-228192375	H1-hESC	embryonic stem cell:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
9	MAX	chr1:228191691-228192016	K562	blood:	n/a	n/a
10	SMC3	chr1:228191965-228192327	HepG2	liver:	n/a	chr1:228192156-228192170
11	CTCF	chr1:228191987-228192321	GM19238	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
12	CTCF	chr1:228191938-228192347	K562	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
13	CTCF	chr1:228191952-228192310	HepG2	liver:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
14	CTCF	chr1:228191977-228192364	K562	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
15	CTCF	chr1:228191939-228192370	H1-hESC	embryonic stem cell:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
16	CEBPB	chr1:228191975-228192134	HepG2	liver:	n/a	n/a
17	MAX	chr1:228191779-228193003	H1-hESC	embryonic stem cell:	n/a	chr1:228192400-228192419 chr1:228192404-228192414 chr1:228192403-228192412 chr1:228192403-228192418 chr1:228192979-228192989 chr1:228192405-228192414 chr1:228192406-228192415
18	RAD21	chr1:228191929-228192294	SK-N-SH_RA	brain:	n/a	n/a
19	RAD21	chr1:228191865-228192426	HCT-116	colon:	n/a	n/a
20	RAD21	chr1:228191979-228192335	HepG2	liver:	n/a	n/a
21	CTCF	chr1:228191767-228192492	SK-N-SH	brain:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
22	SMC3	chr1:228191980-228192343	Hela-S3	cervix:	n/a	chr1:228192156-228192170
23	CTBP2	chr1:228191942-228194483	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr1:228191923-228192401	MCF-7	breast:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
25	RAD21	chr1:228191893-228192410	ECC-1	luminal epithelium:	n/a	n/a
26	CTCF	chr1:228191852-228192602	HCT-116	colon:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171 chr1:228192546-228192559
27	RAD21	chr1:228191856-228192386	SK-N-SH	brain:	n/a	n/a
28	RAD21	chr1:228191976-228192364	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr1:228191948-228192469	HCT-116	colon:	n/a	n/a
30	RAD21	chr1:228191873-228192452	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr1:228191979-228192339	ECC-1	luminal epithelium:	n/a	n/a
32	RAD21	chr1:228191955-228192396	A549	lung:	n/a	n/a
33	RAD21	chr1:228191847-228192428	A549	lung:	n/a	n/a
34	CTCF	chr1:228191980-228192512	A549	lung:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
35	CTCF	chr1:228191960-228192370	GM12878	blood:	n/a	chr1:228192154-228192172 chr1:228192157-228192170 chr1:228192155-228192171
36	ZNF143	chr1:228191981-228192326	H1-hESC	embryonic stem cell:	n/a	n/a
37	SMC3	chr1:228191968-228192331	GM12878	blood:	n/a	chr1:228192156-228192170
38	SMC3	chr1:228191983-228192318	K562	blood:	n/a	chr1:228192156-228192170
39	RAD21	chr1:228191887-228192380	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228183425..228185730-chr1:228191246..228193322,2	K562	blood:
2	chr1:228191350..228193786-chr1:228257693..228259549,2	MCF-7	breast:
3	chr1:228190330..228192732-chr1:228296220..228298722,2	MCF-7	breast:
4	chr1:228191198..228193021-chr1:228266290..228268211,2	MCF-7	breast:
5	chr1:228191745..228192555-chr1:228261259..228261971,3	MCF-7	breast:
6	chr1:228191411..228193255-chr1:228202404..228204319,2	MCF-7	breast:
7	chr1:228185587..228188986-chr1:228190632..228193211,3	MCF-7	breast:
8	chr1:228190431..228192672-chr1:228192836..228195791,3	K562	blood:
9	chr1:228191864..228192376-chr1:228290175..228290810,2	MCF-7	breast:
10	chr1:228191722..228192636-chr1:228703111..228703660,2	K562	blood:
11	chr1:228190036..228193608-chr1:228195528..228197492,3	MCF-7	breast:
12	chr1:228191286..228192801-chr1:228197982..228200475,2	K562	blood:
13	chr1:228190941..228192847-chr1:228260763..228262214,8	MCF-7	breast:
14	chr1:228191780..228193444-chr1:228317568..228320348,2	MCF-7	breast:
15	chr1:228184192..228186220-chr1:228191479..228194171,2	MCF-7	breast:
16	chr1:228191722..228192673-chr1:228250185..228251379,8	MCF-7	breast:
17	chr1:228190517..228193309-chr1:228296399..228298991,3	K562	blood:
18	chr1:228191215..228193545-chr1:228195515..228198090,2	MCF-7	breast:
19	chr1:228191659..228192604-chr1:228250180..228251187,13	MCF-7	breast:
20	chr1:228191736..228192588-chr1:228261257..228262099,3	K562	blood:

Variant related genes	Relation type
WNT3A	TF binding region
ENSG00000162910	Chromatin interaction
ENSG00000143793	Chromatin interaction
ENSG00000154342	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS 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	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
7	nsv947387	chr1:228140028-228206630	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv945349	chr1:228186556-228245135	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv826953	chr1:228191929-228196867	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228191000-228194400	Weak transcription	Right Atrium	heart
2	chr1:228191600-228192200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
3	chr1:228191600-228192200	Bivalent Enhancer	Right Ventricle	heart
4	chr1:228191800-228192000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
5	chr1:228191800-228192000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:228191800-228192000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:228191800-228193000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
8	chr1:228191800-228193200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:228191800-228193800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr1:228191800-228194000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:228191800-228194200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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