Variant report

Variant	rs10279876
Chromosome Location	chr7:138143628-138143629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:138143578-138144133	HepG2	liver:	n/a	n/a
2	NANOG	chr7:138143383-138143875	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:138143131-138146474	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr7:138143390-138144021	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:138143598-138143932	HepG2	liver:	n/a	n/a
6	SIN3A	chr7:138143356-138143996	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr7:138143324-138143653	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr7:138143356-138144005	H1-hESC	embryonic stem cell:	n/a	n/a
9	POU5F1	chr7:138143366-138143832	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBP	chr7:138143356-138146080	H1-hESC	embryonic stem cell:	n/a	n/a
11	RFX5	chr7:138143135-138147159	SK-N-SH	brain:	n/a	chr7:138144908-138144923
12	EP300	chr7:138143351-138143930	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr7:138143453-138144037	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr7:138143320-138144010	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr7:138143236-138144106	H1-hESC	embryonic stem cell:	n/a	chr7:138143743-138143755
16	HDAC2	chr7:138143314-138143882	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr7:138143486-138144177	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr7:138143331-138144099	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr7:138143320-138144019	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr7:138143301-138143973	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr7:138143362-138144082	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr7:138143465-138143919	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUND	chr7:138143522-138144130	H1-hESC	embryonic stem cell:	n/a	chr7:138143917-138143928 chr7:138143742-138143751
24	TAF1	chr7:138143279-138143965	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:138143339-138144047	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD1	chr7:138143330-138144695	H1-hESC	embryonic stem cell:	n/a	n/a
27	SP1	chr7:138143352-138144015	H1-hESC	embryonic stem cell:	n/a	n/a
28	GTF2F1	chr7:138143448-138143988	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr7:138143318-138143765	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr7:138143324-138143951	H1-hESC	embryonic stem cell:	n/a	n/a
31	NANOG	chr7:138143466-138143790	H1-hESC	embryonic stem cell:	n/a	n/a
32	E2F6	chr7:138143527-138143969	H1-hESC	embryonic stem cell:	n/a	chr7:138143743-138143755
33	ATF2	chr7:138143261-138144814	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr7:138143363-138143962	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF7	chr7:138143332-138146199	H1-hESC	embryonic stem cell:	n/a	n/a
36	SP4	chr7:138143350-138144075	H1-hESC	embryonic stem cell:	n/a	n/a
37	HDAC2	chr7:138143381-138143762	H1-hESC	embryonic stem cell:	n/a	n/a
38	TCF12	chr7:138143402-138143860	H1-hESC	embryonic stem cell:	n/a	n/a
39	SP1	chr7:138143388-138144071	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr7:138143331-138143971	H1-hESC	embryonic stem cell:	n/a	n/a
41	EP300	chr7:138143525-138143900	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:138142373..138144059-chr7:138148709..138151590,2	MCF-7	breast:
2	chr7:138123228..138126392-chr7:138142592..138145835,3	K562	blood:
3	chr7:138143601..138146619-chr7:138166848..138169714,4	K562	blood:
4	chr7:138129342..138131930-chr7:138142283..138144640,2	K562	blood:

No data

Variant related genes	Relation type
TRIM24	TF binding region
ENSG00000239123	Chromatin interaction
ENSG00000214815	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11763093	1.00[ASN][1000 genomes]
rs11773577	1.00[ASN][1000 genomes]
rs12707387	1.00[ASN][1000 genomes]
rs12707388	1.00[ASN][1000 genomes]
rs13230953	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231375	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236259	0.81[EUR][1000 genomes]
rs13242427	1.00[ASN][1000 genomes]
rs34718165	1.00[ASN][1000 genomes]
rs35558871	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35674497	1.00[ASN][1000 genomes]
rs55918517	1.00[ASN][1000 genomes]
rs6467777	1.00[ASN][1000 genomes]
rs6467781	1.00[ASN][1000 genomes]
rs67586210	1.00[ASN][1000 genomes]
rs6946435	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6970145	1.00[ASN][1000 genomes]
rs7782453	1.00[ASN][1000 genomes]
rs7799818	1.00[ASN][1000 genomes]
rs7803989	1.00[ASN][1000 genomes]
rs7811152	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	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr7:138140600-138144200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:138140600-138144200	Weak transcription	Fetal Intestine Large	intestine
3	chr7:138141200-138144200	Weak transcription	Liver	Liver
4	chr7:138141200-138144400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:138141200-138144400	Weak transcription	Right Atrium	heart
6	chr7:138141400-138145000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:138141600-138143800	Weak transcription	Primary T cells from cord blood	blood
8	chr7:138142400-138143800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:138142600-138144200	Enhancers	HepG2	liver
10	chr7:138142800-138144400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:138143200-138143800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:138143200-138144200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:138143200-138144200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:138143400-138144000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:138143400-138144200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:138143400-138144600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr7:138143400-138148400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:138143600-138143800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:138143600-138143800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr7:138143600-138144000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr7:138143600-138144200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:138143600-138144200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr7:138143600-138146000	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr7:138143600-138146600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr7:138143600-138148000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr7:138143600-138148000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr7:138143600-138148000	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr7:138143600-138149000	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr7:138143600-138150200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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