Variant report

Variant	rs60344436
Chromosome Location	chr7:153109417-153109418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:153109074-153109463	K562	blood:	n/a	n/a
2	NR2F2	chr7:153109141-153110241	K562	blood:	n/a	n/a
3	BCLAF1	chr7:153107687-153111130	K562	blood:	n/a	n/a
4	POLR2A	chr7:153109094-153111262	K562	blood:	n/a	n/a
5	PML	chr7:153099702-153111270	K562	blood:	n/a	n/a
6	E2F6	chr7:153109093-153109550	K562	blood:	n/a	n/a
7	MAZ	chr7:153109075-153112076	K562	blood:	n/a	n/a
8	ZNF384	chr7:153109228-153109525	K562	blood:	n/a	n/a
9	HEY1	chr7:153106358-153111237	K562	blood:	n/a	n/a
10	HCFC1	chr7:153109116-153109519	K562	blood:	n/a	n/a
11	MAX	chr7:153109012-153109503	K562	blood:	n/a	n/a
12	TBP	chr7:153109098-153111653	K562	blood:	n/a	n/a
13	RCOR1	chr7:153109089-153111415	K562	blood:	n/a	n/a
14	YY1	chr7:153109081-153111497	K562	blood:	n/a	chr7:153109966-153109978 chr7:153109908-153109920 chr7:153109939-153109951
15	TAF1	chr7:153109113-153109420	K562	blood:	n/a	n/a
16	TEAD4	chr7:153108718-153109488	K562	blood:	n/a	n/a
17	ETS1	chr7:153109083-153109504	K562	blood:	n/a	n/a
18	MAFK	chr7:153109087-153109477	K562	blood:	n/a	n/a
19	POLR2A	chr7:153106565-153111352	K562	blood:	n/a	n/a
20	TAL1	chr7:153107838-153111161	K562	blood:	n/a	n/a
21	PML	chr7:153100946-153109494	K562	blood:	n/a	n/a
22	TEAD4	chr7:153107711-153111655	K562	blood:	n/a	n/a
23	UBTF	chr7:153108965-153109512	K562	blood:	n/a	n/a
24	CBX3	chr7:153109019-153109556	K562	blood:	n/a	n/a
25	MYC	chr7:153109127-153112213	K562	blood:	n/a	n/a
26	POLR2A	chr7:153106387-153111222	K562	blood:	n/a	n/a
27	POLR2A	chr7:153099644-153111299	K562	blood:	n/a	n/a
28	POLR2A	chr7:153099580-153111354	K562	blood:	n/a	n/a
29	ZNF143	chr7:153109105-153109531	K562	blood:	n/a	n/a
30	YY1	chr7:153109196-153111377	K562	blood:	n/a	chr7:153109966-153109978 chr7:153109908-153109920 chr7:153109939-153109951
31	MAX	chr7:153109136-153109430	K562	blood:	n/a	n/a
32	CHD2	chr7:153108792-153111309	K562	blood:	n/a	n/a
33	TBL1XR1	chr7:153109114-153111156	K562	blood:	n/a	n/a
34	TAF1	chr7:153109165-153109434	K562	blood:	n/a	n/a
35	POLR2A	chr7:153105460-153111327	K562	blood:	n/a	n/a
36	POLR2A	chr7:153099546-153111466	K562	blood:	n/a	n/a
37	TAF7	chr7:153109145-153109419	K562	blood:	n/a	n/a
38	POLR2A	chr7:153099728-153111351	K562	blood:	n/a	n/a
39	MYC	chr7:153109086-153112044	K562	blood:	n/a	n/a
40	UBTF	chr7:153109143-153109526	K562	blood:	n/a	n/a
41	CTCF	chr7:153108938-153109506	K562	blood:	n/a	n/a
42	POLR2A	chr7:153099807-153111353	K562	blood:	n/a	n/a
43	ZMIZ1	chr7:153109264-153111164	K562	blood:	n/a	n/a
44	POLR2A	chr7:153099579-153111215	K562	blood:	n/a	n/a
45	POLR2A	chr7:153073454-153111170	K562	blood:	n/a	n/a
46	RFX5	chr7:153109334-153110084	K562	blood:	n/a	n/a
47	CTCF	chr7:153109108-153109419	K562	blood:	n/a	n/a
48	JUND	chr7:153108427-153109487	K562	blood:	n/a	n/a
49	YY1	chr7:153109138-153109568	K562	blood:	n/a	n/a
50	HEY1	chr7:153105465-153111229	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:153109375-153109425	IMR90	lung:	fetal
2	chr7:153109375-153109425	AG04449	skin:	fetal
3	chr7:153109375-153109425	HRCEpiC	kidney:	n/a
4	chr7:153109375-153109425	MCF10A-Er-Src	breast:	n/a
5	chr7:153109375-153109425	GM12891	blood:	n/a
6	chr7:153109375-153109425	ProgFib	skin:	n/a
7	chr7:153109375-153109425	A549	lung:	n/a
8	chr7:153109375-153109425	HRPEpiC	eye:	n/a
9	chr7:153109375-153109425	ovcar-3	ovarian:	n/a
10	chr7:153109375-153109425	PANC-1	pancreas:	n/a
11	chr7:153109375-153109425	NHBE	bronchial:	n/a
12	chr7:153109375-153109425	SK-N-SH	brain:	n/a
13	chr7:153109375-153109425	Hela-S3	cervix:	n/a
14	chr7:153109375-153109425	HMEC	breast:	n/a
15	chr7:153109375-153109425	HCF	heart:	n/a
16	chr7:153109375-153109425	PFSK-1	brain:	n/a
17	chr7:153109375-153109425	HIPEpiC	eye:	n/a
18	chr7:153109375-153109425	AG04450	lung:	fetal
19	chr7:153109375-153109425	NT2-D1	testis:	n/a
20	chr7:153109375-153109425	MCF-7	breast:	n/a
21	chr7:153109375-153109425	NB4	blood:	n/a
22	chr7:153109375-153109425	HRE	kidney:	n/a
23	chr7:153109375-153109425	HEK293	kidney:	embryo
24	chr7:153109375-153109425	HEEpiC	esophagus:	n/a
25	chr7:153109375-153109425	NH-A	brain:	n/a
26	chr7:153109375-153109425	K562	blood:	n/a
27	chr7:153109375-153109425	GM12878	blood:	n/a
28	chr7:153109375-153109425	HAEpiC	amniotic membrane:	n/a
29	chr7:153109375-153109425	GM19239	blood:	n/a
30	chr7:153109375-153109425	SAEC	small airway:	n/a
31	chr7:153109375-153109425	AG09319	gingival:	n/a
32	chr7:153109375-153109425	ECC-1	luminal epithelium:	n/a
33	chr7:153109375-153109425	H1-hESC	embryonic stem cell:	embryo
34	chr7:153109375-153109425	Caco-2	colon:	n/a
35	chr7:153109375-153109425	HL-60	blood:	n/a
36	chr7:153109375-153109425	AG10803	skin:	n/a
37	chr7:153109375-153109425	HNPCEpiC	eye:	n/a
38	chr7:153109375-153109425	T-47D	breast:	n/a
39	chr7:153109375-153109425	AG09309	skin:	n/a
40	chr7:153109375-153109425	GM12892	blood:	n/a
41	chr7:153109375-153109425	U87	brain:	n/a
42	chr7:153109375-153109425	BJ	skin:	n/a
43	chr7:153109375-153109425	HCPEpiC	choroid plexus:	n/a
44	chr7:153109375-153109425	LNCaP	prostate:	n/a
45	chr7:153109375-153109425	HPAEpiC	pulmonary alveolar:	n/a
46	chr7:153109375-153109425	AoSMC	blood vessel:	n/a
47	chr7:153109375-153109425	SK-N-MC	brain:	n/a
48	chr7:153109375-153109425	BE2_C	brain:	n/a
49	chr7:153109375-153109425	NHDF-neo	bronchial:	n/a
50	chr7:153109375-153109425	SKMC	muscle:	n/a

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

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	chr1:113496225..113498697-chr7:153107803..153110252,2	K562	blood:
4	chr2:84103331..84106345-chr7:153106704..153111137,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234722	TF binding region
ENSG00000234722	CpG island
ENSG00000223700	Chromatin interaction
ENSG00000236198	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000234338	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10276571	0.85[AMR][1000 genomes]
rs12113045	0.87[AMR][1000 genomes]
rs2099981	0.85[AMR][1000 genomes]
rs28457001	0.85[AMR][1000 genomes]
rs57910227	0.87[AMR][1000 genomes]
rs59258152	0.87[AMR][1000 genomes]
rs60219198	0.87[AMR][1000 genomes]
rs6958761	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6973179	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6973825	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6979272	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479228	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479232	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479243	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484997	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486804	1.00[AMR][1000 genomes]
rs73486807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486848	0.87[AMR][1000 genomes]
rs73486854	1.00[AMR][1000 genomes]
rs73486856	0.87[AMR][1000 genomes]
rs73489004	0.85[AMR][1000 genomes]
rs73489051	0.85[AMR][1000 genomes]
rs73489053	0.85[AMR][1000 genomes]
rs73491091	0.85[AMR][1000 genomes]
rs7778777	0.87[AMR][1000 genomes]
rs7787303	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7801482	0.85[AMR][1000 genomes]
rs7802346	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
15	esv16065	chr7:153106266-153111170	Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr7:153106800-153110000	Transcr. at gene 5' and 3'	K562	blood

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