Variant report

Variant	rs6962344
Chromosome Location	chr7:153111490-153111491
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	JUND	chr7:153109774-153111572	K562	blood:	n/a	n/a
2	RFX5	chr7:153110307-153111579	K562	blood:	n/a	n/a
3	EP300	chr7:153110528-153111526	GM12878	blood:	n/a	n/a
4	CBX3	chr7:153109631-153111793	K562	blood:	n/a	n/a
5	EP300	chr7:153109780-153112049	K562	blood:	n/a	n/a
6	MAZ	chr7:153109075-153112076	K562	blood:	n/a	n/a
7	IRF1	chr7:153109663-153111639	K562	blood:	n/a	n/a
8	CUX1	chr7:153109753-153112221	K562	blood:	n/a	n/a
9	E2F4	chr7:153109753-153111582	K562	blood:	n/a	n/a
10	NR2F2	chr7:153109468-153111493	K562	blood:	n/a	n/a
11	KAP1	chr7:153111038-153111999	K562	blood:	n/a	n/a
12	TBP	chr7:153109098-153111653	K562	blood:	n/a	n/a
13	YY1	chr7:153109081-153111497	K562	blood:	n/a	chr7:153109966-153109978 chr7:153109908-153109920 chr7:153109939-153109951
14	IRF1	chr7:153109672-153111747	K562	blood:	n/a	n/a
15	MAFF	chr7:153109883-153113092	K562	blood:	n/a	chr7:153111170-153111188
16	CEBPB	chr7:153110775-153111926	K562	blood:	n/a	chr7:153111856-153111867
17	TEAD4	chr7:153107711-153111655	K562	blood:	n/a	n/a
18	JUN	chr7:153109841-153111961	K562	blood:	n/a	n/a
19	MXI1	chr7:153109778-153111630	K562	blood:	n/a	n/a
20	MYC	chr7:153109127-153112213	K562	blood:	n/a	n/a
21	ARID3A	chr7:153110322-153112174	K562	blood:	n/a	n/a
22	MAFK	chr7:153110353-153113132	K562	blood:	n/a	chr7:153112489-153112505 chr7:153112489-153112500 chr7:153112490-153112501 chr7:153112489-153112500 chr7:153111172-153111187 chr7:153112488-153112502
23	CBX3	chr7:153110381-153111716	K562	blood:	n/a	n/a
24	CTCF	chr7:153111282-153111731	K562	blood:	n/a	n/a
25	RCOR1	chr7:153109617-153111583	K562	blood:	n/a	n/a
26	CEBPB	chr7:153110588-153111609	K562	blood:	n/a	n/a
27	ZC3H11A	chr7:153109642-153111555	K562	blood:	n/a	n/a
28	MYC	chr7:153109086-153112044	K562	blood:	n/a	n/a
29	TBL1XR1	chr7:153109732-153111556	K562	blood:	n/a	n/a
30	BACH1	chr7:153110739-153112141	K562	blood:	n/a	n/a
31	BHLHE40	chr7:153110425-153112117	K562	blood:	n/a	n/a
32	TRIM28	chr7:153107652-153111711	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:64297147..64300786-chr7:153106859..153112225,9	K562	blood:
2	chr7:64297147..64300763-chr7:153106859..153112373,8	K562	blood:
3	chr7:152160161..152162874-chr7:153109419..153112345,3	K562	blood:

Variant related genes	Relation type
ENSG00000234722	TF binding region
ENSG00000234338	Chromatin interaction
ENSG00000261455	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10216124	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10226122	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10228369	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10240555	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10241884	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10261198	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10952416	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10952419	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10952420	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10952421	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10952422	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11761843	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11763724	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764358	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11764375	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11770518	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773688	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11984406	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12537812	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12671951	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1373519	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1444465	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1524991	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1596607	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2083992	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2312344	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2312355	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2953093	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2961098	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2961099	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4276589	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4316076	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4518571	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4551253	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4639423	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4725497	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4725498	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4726297	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4726300	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57403315	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6464336	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66632997	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66641357	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6958172	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72617373	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72617376	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7782578	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7783923	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7785254	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7785678	0.88[EUR][1000 genomes]
rs7803230	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs930575	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9987004	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9987008	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532222	chr7:152504090-153450290	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1034277	chr7:152932263-153526276	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1023927	chr7:152938365-153526276	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv609072	chr7:152942680-153527304	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1028109	chr7:152945148-153526276	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1034036	chr7:152954795-153379878	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv539211	chr7:152954795-153379878	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1032443	chr7:152988419-153450150	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv539212	chr7:152988419-153450150	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2758141	chr7:153001173-153298779	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv2759576	chr7:153001173-153298779	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv889510	chr7:153050837-153413046	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv889511	chr7:153076838-153201572	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv889512	chr7:153088772-153662151	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153111400-153112000	Flanking Active TSS	K562	blood

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