Variant report

Variant	rs9472253
Chromosome Location	chr6:44306142-44306143
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	NR2F2	chr6:44306129-44306729	K562	blood:	n/a	chr6:44306488-44306503
2	RAD21	chr6:44305640-44306783	SK-N-SH	brain:	n/a	chr6:44306436-44306446 chr6:44306434-44306446 chr6:44306432-44306451 chr6:44306438-44306447 chr6:44306435-44306448
3	RAD21	chr6:44306019-44306690	HCT-116	colon:	n/a	chr6:44306436-44306446 chr6:44306434-44306446 chr6:44306432-44306451 chr6:44306438-44306447 chr6:44306435-44306448
4	CTCF	chr6:44306019-44306808	HCT-116	colon:	n/a	chr6:44306437-44306447 chr6:44306429-44306450 chr6:44306436-44306449 chr6:44306434-44306452
5	CTCF	chr6:44306020-44306170	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr6:44306040-44306902	A549	lung:	n/a	chr6:44306437-44306447 chr6:44306429-44306450 chr6:44306436-44306449 chr6:44306434-44306452
7	CTCF	chr6:44306040-44306190	HRPEpiC	eye:	n/a	n/a
8	STAT3	chr6:44306101-44306231	MCF10A-Er-Src	breast:	n/a	n/a
9	MAZ	chr6:44306126-44306555	HepG2	liver:	n/a	n/a
10	RAD21	chr6:44306137-44306754	A549	lung:	n/a	chr6:44306436-44306446 chr6:44306434-44306446 chr6:44306432-44306451 chr6:44306438-44306447 chr6:44306435-44306448
11	RAD21	chr6:44306095-44306647	Hela-S3	cervix:	n/a	chr6:44306436-44306446 chr6:44306434-44306446 chr6:44306432-44306451 chr6:44306438-44306447 chr6:44306435-44306448
12	CTCF	chr6:44306136-44306737	MCF-7	breast:	n/a	chr6:44306437-44306447 chr6:44306429-44306450 chr6:44306436-44306449 chr6:44306434-44306452
13	JUN	chr6:44306107-44306173	H1-hESC	embryonic stem cell:	n/a	n/a
14	STAT3	chr6:44306036-44306315	MCF10A-Er-Src	breast:	n/a	n/a
15	RAD21	chr6:44306123-44306678	HepG2	liver:	n/a	chr6:44306436-44306446 chr6:44306434-44306446 chr6:44306432-44306451 chr6:44306438-44306447 chr6:44306435-44306448
16	CTCF	chr6:44305865-44307421	SK-N-SH	brain:	n/a	chr6:44306437-44306447 chr6:44306429-44306450 chr6:44307034-44307047 chr6:44306436-44306449 chr6:44306434-44306452
17	FOS	chr6:44306055-44306634	MCF10A-Er-Src	breast:	n/a	n/a
18	CTCF	chr6:44306099-44306791	HCT-116	colon:	n/a	chr6:44306437-44306447 chr6:44306429-44306450 chr6:44306436-44306449 chr6:44306434-44306452
19	ZNF143	chr6:44306040-44306597	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr6:44306141-44306623	MCF-7	breast:	n/a	chr6:44306437-44306447 chr6:44306429-44306450 chr6:44306436-44306449 chr6:44306434-44306452
21	FOS	chr6:44306055-44306600	MCF10A-Er-Src	breast:	n/a	n/a
22	RAD21	chr6:44306027-44306721	ECC-1	luminal epithelium:	n/a	chr6:44306436-44306446 chr6:44306434-44306446 chr6:44306432-44306451 chr6:44306438-44306447 chr6:44306435-44306448
23	SMC3	chr6:44305858-44306946	SK-N-SH	brain:	n/a	chr6:44306436-44306450
24	ESRRA	chr6:44305818-44307111	GM12878	blood:	n/a	chr6:44306492-44306510
25	RAD21	chr6:44305930-44306728	HCT-116	colon:	n/a	chr6:44306436-44306446 chr6:44306434-44306446 chr6:44306432-44306451 chr6:44306438-44306447 chr6:44306435-44306448
26	SMC3	chr6:44306125-44306685	GM12878	blood:	n/a	chr6:44306436-44306450
27	RAD21	chr6:44306009-44306700	MCF-7	breast:	n/a	chr6:44306436-44306446 chr6:44306434-44306446 chr6:44306432-44306451 chr6:44306438-44306447 chr6:44306435-44306448
28	STAT3	chr6:44306021-44306216	MCF10A-Er-Src	breast:	n/a	n/a
29	RAD21	chr6:44306059-44306743	H1-hESC	embryonic stem cell:	n/a	chr6:44306436-44306446 chr6:44306434-44306446 chr6:44306432-44306451 chr6:44306438-44306447 chr6:44306435-44306448

No.	Distal block	Cell Line	Cell type
1	chr6:44299856..44303347-chr6:44304768..44307907,5	K562	blood:
2	chr6:44235250..44236905-chr6:44304916..44306810,16	MCF-7	breast:
3	chr6:44231961..44235036-chr6:44304302..44308085,4	MCF-7	breast:
4	chr6:43742589..43743189-chr6:44305958..44306640,2	K562	blood:
5	chr6:44235278..44236426-chr6:44305941..44306986,11	K562	blood:
6	chr6:44295218..44297676-chr6:44304954..44307920,2	K562	blood:
7	chr6:44247321..44249117-chr6:44305925..44308606,2	K562	blood:
8	chr6:44235532..44236481-chr6:44305932..44306869,8	MCF-7	breast:
9	chr6:44064146..44065473-chr6:44305968..44306588,4	K562	blood:
10	chr6:44140104..44141091-chr6:44305973..44306927,4	K562	blood:
11	chr6:44279477..44281866-chr6:44305528..44307591,2	K562	blood:
12	chr6:44235214..44237013-chr6:44305028..44307078,2	MCF-7	breast:
13	chr6:43691294..43691819-chr6:44305809..44306480,2	K562	blood:
14	chr6:44222362..44225267-chr6:44302237..44306312,4	K562	blood:
15	chr6:44217074..44219201-chr6:44303234..44306266,3	K562	blood:
16	chr6:44214075..44216789-chr6:44305650..44307657,3	MCF-7	breast:
17	chr6:44119482..44120143-chr6:44306003..44307071,3	MCF-7	breast:
18	chr6:44222748..44225647-chr6:44303433..44307988,6	K562	blood:
19	chr6:44279014..44281330-chr6:44303755..44306182,3	K562	blood:

Variant related genes	Relation type
SPATS1	TF binding region
ENSG00000096384	Chromatin interaction
ENSG00000146232	Chromatin interaction
ENSG00000124608	Chromatin interaction
ENSG00000157593	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55948131	1.00[EUR][1000 genomes]
rs59341714	1.00[EUR][1000 genomes]
rs61601740	1.00[EUR][1000 genomes]
rs73439545	1.00[EUR][1000 genomes]
rs73439551	1.00[EUR][1000 genomes]
rs73439581	1.00[EUR][1000 genomes]
rs7738177	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44302600-44309600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr6:44304000-44306800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:44305000-44306200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:44305000-44306400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:44305000-44307400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:44305200-44307000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:44305200-44307400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:44305400-44310400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:44306000-44306200	Enhancers	Brain Germinal Matrix	brain
10	chr6:44306000-44307600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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