Variant report

Variant	rs7792579
Chromosome Location	chr7:6765593-6765594
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	BCL3	chr7:6765434-6765865	GM12878	blood:	n/a	n/a
2	PAX5	chr7:6765496-6765799	GM12878	blood:	n/a	n/a
3	NFIC	chr7:6765127-6765681	GM12878	blood:	n/a	n/a
4	ATF2	chr7:6765435-6765872	GM12878	blood:	n/a	n/a
5	FOSL1	chr7:6765527-6765962	HCT-116	colon:	n/a	n/a
6	PAX5	chr7:6765513-6765745	GM12878	blood:	n/a	n/a
7	MTA3	chr7:6765441-6765859	GM12878	blood:	n/a	n/a
8	FOXM1	chr7:6765434-6765913	GM12878	blood:	n/a	n/a
9	NFIC	chr7:6765240-6766224	GM12878	blood:	n/a	n/a
10	TBL1XR1	chr7:6765577-6765699	GM12878	blood:	n/a	n/a
11	ZNF384	chr7:6764704-6765961	GM12878	blood:	n/a	n/a
12	MEF2A	chr7:6765470-6765865	GM12878	blood:	n/a	n/a
13	RUNX3	chr7:6765443-6765936	GM12878	blood:	n/a	n/a
14	BHLHE40	chr7:6765444-6765862	GM12878	blood:	n/a	n/a
15	RUNX3	chr7:6765416-6765926	GM12878	blood:	n/a	n/a
16	PAX5	chr7:6765426-6765928	GM12878	blood:	n/a	n/a
17	BCLAF1	chr7:6765486-6765849	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
PMS2CL	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10244591	0.87[ASN][1000 genomes]
rs10272921	0.88[ASN][1000 genomes]
rs10279319	0.81[ASN][1000 genomes]
rs10441131	0.86[ASN][1000 genomes]
rs10951994	0.85[ASN][1000 genomes]
rs11770065	0.83[ASN][1000 genomes]
rs11974158	0.84[ASN][1000 genomes]
rs11980762	0.84[ASN][1000 genomes]
rs12113879	0.99[ASN][1000 genomes]
rs12533770	0.88[AMR][1000 genomes]
rs12534591	0.83[ASN][1000 genomes]
rs12535850	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12536067	0.91[AMR][1000 genomes]
rs12536107	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12537487	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12539942	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12540797	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13229571	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13247186	0.91[ASN][1000 genomes]
rs28494902	0.92[ASN][1000 genomes]
rs28649084	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34857592	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34899283	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34947632	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35121012	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35291651	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35644498	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35768299	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4724766	0.80[ASN][1000 genomes]
rs62439703	0.85[ASN][1000 genomes]
rs62439704	0.85[ASN][1000 genomes]
rs62439719	0.85[ASN][1000 genomes]
rs62439720	0.85[ASN][1000 genomes]
rs62439721	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62439722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62439727	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62439728	0.87[ASN][1000 genomes]
rs62439731	0.86[ASN][1000 genomes]
rs62439734	0.84[EUR][1000 genomes]
rs62439737	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62439738	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62439743	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6463578	0.80[ASN][1000 genomes]
rs6463579	0.97[ASN][1000 genomes]
rs6463580	0.97[ASN][1000 genomes]
rs6943677	0.84[ASN][1000 genomes]
rs6944332	0.84[ASN][1000 genomes]
rs6948965	0.82[ASN][1000 genomes]
rs6953825	0.83[ASN][1000 genomes]
rs6954012	0.81[ASN][1000 genomes]
rs6954172	0.97[ASN][1000 genomes]
rs6958648	0.84[ASN][1000 genomes]
rs6964276	0.86[ASN][1000 genomes]
rs6966713	0.83[ASN][1000 genomes]
rs6968879	0.84[ASN][1000 genomes]
rs6971324	0.84[ASN][1000 genomes]
rs6971979	0.84[ASN][1000 genomes]
rs6975002	0.85[ASN][1000 genomes]
rs6979127	0.85[ASN][1000 genomes]
rs6979158	0.84[ASN][1000 genomes]
rs7779296	0.84[ASN][1000 genomes]
rs7784521	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7789640	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7792858	1.00[ASN][1000 genomes]
rs7796846	0.90[ASN][1000 genomes]
rs7799134	0.84[ASN][1000 genomes]
rs7804259	0.81[ASN][1000 genomes]
rs7804542	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1015646	chr7:6738483-6779270	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv1819001	chr7:6746810-6785602	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv10861	chr7:6749172-6768435	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1819632	chr7:6749937-6767410	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv966755	chr7:6750289-6769785	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv966754	chr7:6750289-6838266	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887442	chr7:6753286-6820508	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887443	chr7:6753286-6832265	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv887444	chr7:6753286-6855510	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv887445	chr7:6758018-6843722	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv887446	chr7:6758018-6870635	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv887447	chr7:6764583-6843722	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv887448	chr7:6764583-6855510	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv887449	chr7:6764583-6870635	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	esv2757207	chr7:6764583-6977214	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
20	esv2759504	chr7:6764583-6977214	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr7:6747000-6768600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:6754600-6768600	Weak transcription	Liver	Liver
3	chr7:6763600-6766600	Enhancers	Primary B cells from cord blood	blood
4	chr7:6764000-6765800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:6764000-6766200	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:6764200-6765800	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:6764200-6766200	Enhancers	GM12878-XiMat	blood
8	chr7:6764400-6765800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:6764600-6765800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:6765000-6768600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:6765200-6765800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:6765200-6766000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:6765200-6768600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:6765200-6769000	Weak transcription	Spleen	Spleen
15	chr7:6765400-6768600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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